From 723b9e639d83c0c54c51755279dc6d8c7744fa34 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Tue, 21 Nov 2023 13:08:15 +0100 Subject: [PATCH] feat: implement clingen gene dosage pathogenicity information (#316) --- protos/annonars/genes/base.proto | 72 +- src/common/mod.rs | 21 + src/cons/cli/import.rs | 20 +- src/genes/cli/data.rs | 226 +- src/genes/cli/import.rs | 113 +- ...ta__tests__deserialize_clingen_record.snap | 1892 +++-------------- .../ClinGen_gene_curation_list_GRCh37.tsv | 56 + tests/genes/clingen/clingen.csv | 97 - 8 files changed, 633 insertions(+), 1864 deletions(-) create mode 100644 tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv delete mode 100644 tests/genes/clingen/clingen.csv diff --git a/protos/annonars/genes/base.proto b/protos/annonars/genes/base.proto index d731812b..bc1efc9f 100644 --- a/protos/annonars/genes/base.proto +++ b/protos/annonars/genes/base.proto @@ -28,48 +28,38 @@ message AcmgSecondaryFindingRecord { string variants_to_report = 11; } -// Per-disease annotation of ClinGen curation. -message ClingenCurationDiseaseRecord { - // ClinGen disease label. - optional string disease_label = 1; - // MONDO disease ID. - optional string mondo_id = 2; - // URL in clinicalgenome.org knowledge base for disease. - optional string disease_url = 3; - // Annotated mode of inheritance. - repeated string mode_of_inheritance = 4; - // Dosage haploinsufficiency assertion. - optional string dosage_haploinsufficiency_assertion = 5; - // Dosage triplosensitivity assertion. - optional string dosage_triplosensitivity_assertion = 6; - // URL of dosage report in clinicalgenome.org knowledge base. - optional string dosage_report = 7; - // Working group with dosage report (always "Dosage Working Group") or empty. - optional string dosage_group = 8; - // Validity assertion classifications. - repeated string gene_disease_validity_assertion_classifications = 9; - // Validity assertion report URLs. - repeated string gene_disease_validity_assertion_reports = 10; - // Validity assertion Gene Curation Expert Panels. - repeated string gene_disease_validity_gceps = 11; - // Actionability assertion classifications. - repeated string actionability_assertion_classifications = 12; - // Actionability assertion report URLs. - repeated string actionability_assertion_reports = 13; - // Actionability assertion Gene Curation Expert Panels. - repeated string actionability_groups = 14; +/// Enumeration for Haploinsufficiency / Triplosensitivity scores. +enum ClingenDosageScore { + // Sufficient evidence for dosage pathogenicity + CLINGEN_DOSAGE_SCORE_SUFFICIENT_EVIDENCE_AVAILABLE = 0; + // Some evidence for dosage pathogenicity + CLINGEN_DOSAGE_SCORE_SOME_EVIDENCE_AVAILABLE = 1; + // Little evidence for dosage pathogenicity + CLINGEN_DOSAGE_SCORE_LITTLE_EVIDENCE = 2; + // No evidence available + CLINGEN_DOSAGE_SCORE_NO_EVIDENCE_AVAILABLE = 3; + // Gene associated with autosomal recessive phenotype + CLINGEN_DOSAGE_SCORE_RECESSIVE = 4; + // Dosage sensitivity unlikely + CLINGEN_DOSAGE_SCORE_UNLIKELY = 5; } -// Code for data from the ClinGen curation. -message ClingenCurationRecord { - // HGNC gene symbol. +/// `ClinGen` gene dosage sensitivity record. +message ClingenDosageRecord { + // Gene symbol. string gene_symbol = 1; - // HGNC gene ID. - string hgnc_id = 2; - // URL in clinicalgenome.org knowledge base for gene. - string gene_url = 3; - // The ClinGen per-gene curation records. - repeated ClingenCurationDiseaseRecord disease_records = 4; + // NCBI gene ID. + string ncbi_gene_id = 2; + // Genomic location. + string genomic_location = 3; + // Haploinsufficiency score. + ClingenDosageScore haploinsufficiency_score = 4; + // Triplosensitivity score. + ClingenDosageScore triplosensitivity_score = 5; + // Haploinsufficiency Disease ID. + optional string haploinsufficiency_disease_id = 6; + // Haploinsufficiency Disease ID. + optional string triplosensitivity_disease_id = 7; } // Code for data from the dbNSFP database. @@ -798,8 +788,8 @@ message GtexRecord { message Record { // Information from the ACMG secondary finding list. AcmgSecondaryFindingRecord acmg_sf = 1; - // Information from ClinGen curation. - ClingenCurationRecord clingen = 2; + // Information from ClinGen dosage curation. + ClingenDosageRecord clingen = 12; // Information from dbNSFP. DbnsfpRecord dbnsfp = 3; // Information from the gnomAD constraints database. diff --git a/src/common/mod.rs b/src/common/mod.rs index d9b30b85..19bd5428 100644 --- a/src/common/mod.rs +++ b/src/common/mod.rs @@ -51,3 +51,24 @@ macro_rules! set_snapshot_suffix { } pub use set_snapshot_suffix; + +/// Assembly to be passed on the command line. +#[derive( + Debug, + Clone, + Copy, + PartialEq, + Eq, + PartialOrd, + Ord, + clap::ValueEnum, + serde::Deserialize, + serde::Serialize, +)] +#[serde(rename_all = "snake_case")] +pub enum Assembly { + /// GRCh37 + Grch37, + /// GRCh38 + Grch38, +} diff --git a/src/cons/cli/import.rs b/src/cons/cli/import.rs index 36301a48..d3495ef3 100644 --- a/src/cons/cli/import.rs +++ b/src/cons/cli/import.rs @@ -31,17 +31,17 @@ pub mod reading { pub alignment: String, } - impl Into for Record { - fn into(self) -> crate::pbs::cons::Record { + impl From for crate::pbs::cons::Record { + fn from(val: Record) -> Self { crate::pbs::cons::Record { - chrom: self.chromosome, - start: self.start, - stop: self.start, - hgnc_id: self.hgnc_id, - enst_id: self.enst_id, - exon_num: self.exon_num, - exon_count: self.exon_count, - alignment: self.alignment, + chrom: val.chromosome, + start: val.start, + stop: val.start, + hgnc_id: val.hgnc_id, + enst_id: val.enst_id, + exon_num: val.exon_num, + exon_count: val.exon_count, + alignment: val.alignment, } } } diff --git a/src/genes/cli/data.rs b/src/genes/cli/data.rs index 69a1030d..00e71cca 100644 --- a/src/genes/cli/data.rs +++ b/src/genes/cli/data.rs @@ -5,13 +5,13 @@ use serde::{Deserialize, Serialize}; /// Entry in the genes RocksDB database. /// /// Note that the HGNC ID is used for the keys, e.g., `"HGNC:5"`. -#[serde_with::skip_serializing_none] #[derive(Debug, Clone, Serialize, Deserialize)] +#[serde_with::skip_serializing_none] pub struct Record { /// Information from the ACMG secondary finding list. pub acmg_sf: Option, /// Information from the ClinGen gene curation. - pub clingen: Option>, + pub clingen: Option, /// Information from dbNSFP genes. pub dbnsfp: Option, /// Information from the gnomAD constraints database. @@ -64,84 +64,161 @@ pub mod acmg_sf { } } -/// Code for deserializing data from ClinGen CSV file. +/// Code for deserializing data from ClinGen gene TSV file. pub mod clingen_gene { - use serde::{Deserialize, Deserializer, Serialize, Serializer}; + /// Dosage pathogenicity score. + #[derive( + Debug, Copy, Clone, PartialEq, Eq, PartialOrd, Ord, serde::Deserialize, serde::Serialize, + )] + #[serde(rename_all = "snake_case")] + pub enum Score { + /// Sufficient evidence for dosage pathogenicity (3) + SufficientEvidence, + /// Some evidence for dosage pathogenicity (2) + SomeEvidence, + /// Little evidence for dosage pathogenicity (1) + LittleEvidence, + /// No evidence for dosage pathogenicity (0) + NoEvidenceAvailable, + /// Gene associated with autosomal recessive phenotype (30) + GeneAssociatedWithRecessivePhenotype, + /// Dosage sensitivity unlikely (40) + DosageSensitivityUnlikely, + } - /// A record from the ClinGen gene curation. - #[derive(Debug, Clone, Serialize, Deserialize)] - pub struct Record { - /// HGNC gene symbol. + impl TryFrom> for Score { + type Error = anyhow::Error; + + fn try_from(value: Option) -> Result { + match value { + None | Some(0) => Ok(Self::NoEvidenceAvailable), + Some(1) => Ok(Self::LittleEvidence), + Some(2) => Ok(Self::SomeEvidence), + Some(3) => Ok(Self::SufficientEvidence), + Some(30) => Ok(Self::GeneAssociatedWithRecessivePhenotype), + Some(40) => Ok(Self::DosageSensitivityUnlikely), + _ => anyhow::bail!("invalid score: {:?}", value), + } + } + } + + impl From for crate::pbs::genes::ClingenDosageScore { + fn from(val: Score) -> Self { + use crate::pbs::genes::ClingenDosageScore::*; + match val { + Score::SufficientEvidence => SufficientEvidenceAvailable, + Score::SomeEvidence => SomeEvidenceAvailable, + Score::LittleEvidence => LittleEvidence, + Score::NoEvidenceAvailable => NoEvidenceAvailable, + Score::GeneAssociatedWithRecessivePhenotype => Recessive, + Score::DosageSensitivityUnlikely => Unlikely, + } + } + } + + /// `ClinGen` dosage sensitivy gene record to be used in the app. + #[derive(Debug, Clone, PartialEq, serde::Deserialize, serde::Serialize)] + pub struct Gene { + /// Gene symbol. + #[serde(alias = "#Gene Symbol")] pub gene_symbol: String, - /// HGNC gene ID. - pub hgnc_id: String, - /// URL in clinicalgenome.org knowledge base for gene. - pub gene_url: String, - /// ClinGen disease label. - pub disease_label: Option, - /// MONDO disease ID. - pub mondo_id: Option, - /// URL in clinicalgenome.org knowledge base for disease. - pub disease_url: Option, - /// Annotated mode of inheritance. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub mode_of_inheritance: Vec, - /// Dosage haploinsufficiency assertion. - pub dosage_haploinsufficiency_assertion: Option, - /// Dosage triplosensitivity assertion. - pub dosage_triplosensitivity_assertion: Option, - /// URL of dosage report in clinicalgenome.org knowledge base. - pub dosage_report: Option, - /// Working group with dosage report (always "Dosage Working Group") or empty. - pub dosage_group: Option, - /// Validity assertion classifications. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub gene_disease_validity_assertion_classifications: Vec, - /// Validity assertion report URLs. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub gene_disease_validity_assertion_reports: Vec, - /// Validity assertion Gene Curation Expert Panels. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub gene_disease_validity_gceps: Vec, - /// Actionability assertion classifications. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub actionability_assertion_classifications: Vec, - /// Actionability assertion report URLs. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub actionability_assertion_reports: Vec, - /// Actionability assertion Gene Curation Expert Panels. - #[serde(serialize_with = "serialize_vec", deserialize_with = "deserialize_vec")] - pub actionability_groups: Vec, + /// NCBI gene ID. + #[serde(alias = "Gene ID")] + pub ncbi_gene_id: String, + /// Genomic location. + #[serde(alias = "Genomic Location")] + pub genomic_location: String, + /// Haploinsufficiency score. + #[serde(alias = "Haploinsufficiency Score", deserialize_with = "parse_score")] + pub haploinsufficiency_score: Option, + /// Triplosensitivity score. + #[serde(alias = "Triplosensitivity Score", deserialize_with = "parse_score")] + pub triplosensitivity_score: Option, + /// Haploinsufficiency Disease ID. + #[serde(alias = "Haploinsufficiency Disease ID")] + pub haploinsufficiency_disease_id: Option, + /// Haploinsufficiency Disease ID. + #[serde(alias = "Triplosensitivity Disease ID")] + pub triplosensitivity_disease_id: Option, } - /// Deserialize `Vec` as " | "-separated string, empty is "". - /// - /// cf. https://stackoverflow.com/a/56384732/84349 - fn deserialize_vec<'de, D>(deserializer: D) -> Result, D::Error> + /// Helper for parsing the scores which may have interesting values. + fn parse_score<'de, D>(d: D) -> Result, D::Error> where - D: Deserializer<'de>, + D: serde::Deserializer<'de>, { - let value: String = Deserialize::deserialize(deserializer)?; - if value.is_empty() { - Ok(Vec::new()) + let tmp: String = serde::Deserialize::deserialize(d)?; + if tmp.is_empty() || tmp == "Not yet evaluated" || tmp == "-1" { + Ok(None) } else { - Ok(value - .split(" | ") - .map(|s| s.trim().to_string()) - .filter(|s| !s.is_empty()) - .collect()) + Ok(Some(tmp.parse().map_err(serde::de::Error::custom)?)) } } - /// Serialize `Vec`, counterpart to `deserialize_vec`. - fn serialize_vec(x: &Vec, s: S) -> Result - where - S: Serializer, - { - if x.is_empty() { - s.serialize_str("") - } else { - s.serialize_str(&x.join(" | ")) + impl TryInto for Gene { + type Error = anyhow::Error; + + fn try_into(self) -> Result { + genomic_location_to_interval(&self.genomic_location) + } + } + + /// Helper to convert genomic location string into an interval. + fn genomic_location_to_interval( + genomic_location: &str, + ) -> Result { + let mut parts = genomic_location.split(':'); + let chrom = parts.next().ok_or_else(|| { + anyhow::anyhow!( + "could not parse chromosome from genomic location: {}", + genomic_location + ) + })?; + let mut parts = parts + .next() + .ok_or_else(|| anyhow::anyhow!("could not parse region {}", genomic_location))? + .split('-'); + let begin = parts + .next() + .unwrap() + .parse::() + .map_err(|e| anyhow::anyhow!("could not parse start position from: {}", e))? + .saturating_sub(1); + let end = parts + .next() + .unwrap() + .parse::() + .map_err(|e| anyhow::anyhow!("could not parse end position from: {}", e))?; + Ok(bio::bio_types::genome::Interval::new( + chrom.to_string(), + begin..end, + )) + } + + /// `ClinGen` dosage sensitivy region record to be used in the app. + #[derive(Debug, Clone, PartialEq, serde::Deserialize, serde::Serialize)] + pub struct Region { + /// ISCA ID + pub isca_id: String, + /// ISCA Region Name + pub isca_region_name: String, + /// Genomic locaion. + pub genomic_location: String, + /// Haploinsufficiency score. + pub haploinsufficiency_score: Score, + /// Triplosensitivity score. + pub triplosensitivity_score: Score, + /// Haploinsufficiency Disease ID. + pub haploinsufficiency_disease_id: Option, + /// Haploinsufficiency Disease ID. + pub triplosensitivity_disease_id: Option, + } + + impl TryInto for Region { + type Error = anyhow::Error; + + fn try_into(self) -> Result { + genomic_location_to_interval(&self.genomic_location) } } } @@ -2010,14 +2087,17 @@ mod tests { #[test] fn deserialize_clingen_record() -> Result<(), anyhow::Error> { - let path_csv = "tests/genes/clingen/clingen.csv"; - let str_csv = std::fs::read_to_string(path_csv)?; + let path_tsv = "tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv"; + let str_tsv = std::fs::read_to_string(path_tsv)?; + let str_tsv = str_tsv.lines().collect::>()[5..].join("\n"); let mut rdr = csv::ReaderBuilder::new() .has_headers(true) - .from_reader(str_csv.as_bytes()); + .delimiter(b'\t') + .flexible(true) + .from_reader(str_tsv.as_bytes()); let records = rdr .deserialize() - .collect::, csv::Error>>()?; + .collect::, csv::Error>>()?; insta::assert_yaml_snapshot!(records); Ok(()) diff --git a/src/genes/cli/import.rs b/src/genes/cli/import.rs index 4d2f03f4..91c3a5cb 100644 --- a/src/genes/cli/import.rs +++ b/src/genes/cli/import.rs @@ -86,21 +86,35 @@ fn load_acmg(path: &str) -> Result, anyhow::Err /// /// # Result /// -/// A map from HGNC ID to ClinGen record. -fn load_clingen(path: &str) -> Result>, anyhow::Error> { - info!(" loading ClinGen curations from {}", path); - let mut result: HashMap> = HashMap::new(); - - let mut reader = csv::ReaderBuilder::new().from_path(path)?; - for record in reader.deserialize::() { - let record = record.unwrap(); - if let Some(entry) = result.get_mut(&record.hgnc_id) { - entry.push(record); - } else { - result.insert(record.hgnc_id.clone(), vec![record]); +/// A map from gene symbol to ClinGen record. +fn load_clingen(path: &str) -> Result, anyhow::Error> { + info!(" loading ClinGen gene curations from {}", path); + let mut result = HashMap::new(); + + // Construct reader and skip initial 5 lines. + let mut reader = std::fs::File::open(path) + .map_err(|e| anyhow::anyhow!("problem opening file: {}", e)) + .map(BufReader::new)?; + + { + let mut buf = String::new(); + for _ in 0..5 { + reader.read_line(&mut buf)?; + buf.clear(); } } + let mut csv_reader = csv::ReaderBuilder::new() + .delimiter(b'\t') + .has_headers(true) + .flexible(true) + .from_reader(reader); + for record in csv_reader.deserialize() { + let record: clingen_gene::Gene = + record.map_err(|e| anyhow::anyhow!("problem parsing record: {}", e))?; + result.insert(record.gene_symbol.clone(), record); + } + Ok(result) } @@ -379,46 +393,31 @@ fn convert_record(record: data::Record) -> pbs::genes::Record { }); let clingen = clingen.map(|clingen| { - let first = clingen[0].clone(); - let mut result = pbs::genes::ClingenCurationRecord { - gene_symbol: first.gene_symbol, - hgnc_id: first.hgnc_id, - gene_url: first.gene_url, - disease_records: Vec::new(), - }; - - for record in clingen { - result - .disease_records - .push(pbs::genes::ClingenCurationDiseaseRecord { - disease_label: record.disease_label.clone(), - mondo_id: record.mondo_id.clone(), - disease_url: record.disease_url.clone(), - mode_of_inheritance: record.mode_of_inheritance.clone(), - dosage_haploinsufficiency_assertion: record - .dosage_haploinsufficiency_assertion - .clone(), - dosage_triplosensitivity_assertion: record - .dosage_triplosensitivity_assertion - .clone(), - dosage_report: record.dosage_report.clone(), - dosage_group: record.dosage_group.clone(), - gene_disease_validity_assertion_classifications: record - .gene_disease_validity_assertion_classifications - .clone(), - gene_disease_validity_assertion_reports: record - .gene_disease_validity_assertion_reports - .clone(), - gene_disease_validity_gceps: record.gene_disease_validity_gceps.clone(), - actionability_assertion_classifications: record - .actionability_assertion_classifications - .clone(), - actionability_assertion_reports: record.actionability_assertion_reports.clone(), - actionability_groups: record.actionability_groups.clone(), - }); + let clingen_gene::Gene { + gene_symbol, + ncbi_gene_id, + genomic_location, + haploinsufficiency_score, + triplosensitivity_score, + haploinsufficiency_disease_id, + triplosensitivity_disease_id, + } = clingen; + + pbs::genes::ClingenDosageRecord { + gene_symbol, + ncbi_gene_id, + genomic_location, + haploinsufficiency_score: Into::::into( + clingen_gene::Score::try_from(haploinsufficiency_score) + .expect("invalid haploinsufficiency score"), + ) as i32, + triplosensitivity_score: Into::::into( + clingen_gene::Score::try_from(triplosensitivity_score) + .expect("invalid triplosensitivity score"), + ) as i32, + haploinsufficiency_disease_id, + triplosensitivity_disease_id, } - - result }); let dbnsfp = dbnsfp.map(|dbnsfp| { @@ -919,7 +918,7 @@ fn convert_record(record: data::Record) -> pbs::genes::Record { #[allow(clippy::too_many_arguments)] fn write_rocksdb( acmg_by_hgnc_id: HashMap, - clingen_by_hgnc_id: HashMap>, + clingen_by_symbol: HashMap, dbnsfp_by_symbol: HashMap, constraints_by_ensembl_id: HashMap, hgnc: HashMap, @@ -957,7 +956,7 @@ fn write_rocksdb( let hgnc_id = hgnc_record.hgnc_id.clone(); let record = convert_record(data::Record { acmg_sf: acmg_by_hgnc_id.get(&hgnc_id).cloned(), - clingen: clingen_by_hgnc_id.get(&hgnc_id).cloned(), + clingen: clingen_by_symbol.get(&hgnc_record.symbol).cloned(), dbnsfp: dbnsfp_by_symbol.get(&hgnc_record.symbol).cloned(), gnomad_constraints: hgnc_record .ensembl_gene_id @@ -996,7 +995,7 @@ pub fn run(common_args: &common::cli::Args, args: &Args) -> Result<(), anyhow::E let before_loading = Instant::now(); info!("Loading genes data files..."); let acmg_by_hgnc_id = load_acmg(&args.path_in_acmg)?; - let clingen_by_hgnc_id = load_clingen(&args.path_in_clingen)?; + let clingen_by_symbol = load_clingen(&args.path_in_clingen)?; let constraints_by_ensembl_id = load_gnomad_constraints(&args.path_in_gnomad_constraints)?; let dbnsfp_by_symbol = load_dbnsfp(&args.path_in_dbnsfp)?; let hgnc = load_hgnc(&args.path_in_hgnc)?; @@ -1015,7 +1014,7 @@ pub fn run(common_args: &common::cli::Args, args: &Args) -> Result<(), anyhow::E info!("Writing genes database..."); write_rocksdb( acmg_by_hgnc_id, - clingen_by_hgnc_id, + clingen_by_symbol, dbnsfp_by_symbol, constraints_by_ensembl_id, hgnc, @@ -1051,7 +1050,9 @@ pub mod test { }; let args = Args { path_in_acmg: String::from("tests/genes/acmg/acmg.tsv"), - path_in_clingen: String::from("tests/genes/clingen/clingen.csv"), + path_in_clingen: String::from( + "tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv", + ), path_in_gnomad_constraints: String::from( "tests/genes/gnomad_constraints/gnomad_constraints.tsv", ), diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap index 70958c5e..6b3f7dd1 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap @@ -2,1636 +2,354 @@ source: src/genes/cli/data.rs expression: records --- -- gene_symbol: A2ML1 - hgnc_id: "HGNC:23336" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:23336" - disease_label: Noonan syndrome - mondo_id: "MONDO:0018997" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0018997" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: disputing (06/07/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d910a9d8-516e-443d-acba-8d61f7574792-2018-06-07T160000.000Z" - gene_disease_validity_gceps: RASopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" +- gene_symbol: A4GALT + ncbi_gene_id: "53947" + genomic_location: "chr22:43088121-43117307" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: AAGAB - hgnc_id: "HGNC:25662" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:25662" - disease_label: "palmoplantar keratoderma, punctate type 1A" - mondo_id: "MONDO:0007858" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0007858" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (02/28/2013) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/28/2013) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25662" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "79719" + genomic_location: "chr15:67493013-67547536" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0007858" + triplosensitivity_disease_id: ~ +- gene_symbol: AARS1 + ncbi_gene_id: "16" + genomic_location: "chr16:70286297-70323412" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: AARS2 - hgnc_id: "HGNC:21022" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21022" - disease_label: mitochondrial disease - mondo_id: "MONDO:0044970" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0044970" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (04/18/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z" - gene_disease_validity_gceps: Mitochondrial Diseases - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AARS2 - hgnc_id: "HGNC:21022" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21022" - disease_label: "leukoencephalopathy, progressive, with ovarian failure" - mondo_id: "MONDO:0014387" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014387" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "57505" + genomic_location: "chr6:44266463-44281063" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0014387" + triplosensitivity_disease_id: ~ - gene_symbol: AASS - hgnc_id: "HGNC:17366" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:17366" - disease_label: hyperlysinemia - mondo_id: "MONDO:0009388" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009388" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17366" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (10/14/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92e04f9e-f03e-4295-baac-e9fb6b48a258-2022-10-14T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABAT - hgnc_id: "HGNC:23" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:23" - disease_label: developmental and epileptic encephalopathy - mondo_id: "MONDO:0100062" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100062" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: moderate evidence (04/19/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82-2022-04-19T160000.000Z" - gene_disease_validity_gceps: Epilepsy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "10157" + genomic_location: "chr7:121713598-121784344" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0009388" + triplosensitivity_disease_id: ~ - gene_symbol: ABAT - hgnc_id: "HGNC:23" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:23" - disease_label: GABA aminotransaminase deficiency - mondo_id: "MONDO:0013166" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013166" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCA4 - hgnc_id: "HGNC:34" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:34" - disease_label: ABCA4-related retinopathy - mondo_id: "MONDO:0800406" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0800406" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (10/06/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38729563-bf36-48ae-929e-fa69a225de39-2022-10-06T160000.000Z" - gene_disease_validity_gceps: Retina - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "18" + genomic_location: "chr16:8768444-8878432" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0013166" + triplosensitivity_disease_id: ~ - gene_symbol: ABCB11 - hgnc_id: "HGNC:42" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:42" - disease_label: progressive familial intrahepatic cholestasis type 2 - mondo_id: "MONDO:0011156" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0011156" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (07/08/2020) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (07/08/2020) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:42" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCB4 - hgnc_id: "HGNC:45" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:45" - disease_label: progressive familial intrahepatic cholestasis type 3 - mondo_id: "MONDO:0011214" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0011214" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (11/23/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_009134d7-b79c-4a90-9bae-c1f302439258-2022-11-23T170000.000Z" - gene_disease_validity_gceps: General Gene Curation - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCC4 - hgnc_id: "HGNC:55" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:55" - disease_label: qualitative platelet defect - mondo_id: "MONDO:0001197" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0001197" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: moderate evidence (05/25/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2828abac-5b4a-4dad-a703-10c0daf35dbd-2022-05-25T160000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCC8 - hgnc_id: "HGNC:59" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:59" - disease_label: monogenic diabetes - mondo_id: "MONDO:0015967" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0015967" - mode_of_inheritance: Semidominant inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/24/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (07/24/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c0dfa5-c6ea-42fd-8118-be6ff97beb3e-2022-07-24T160000.000Z" - gene_disease_validity_gceps: Monogenic Diabetes - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "8647" + genomic_location: "chr2:169779449-169887833" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011156" + triplosensitivity_disease_id: ~ - gene_symbol: ABCC8 - hgnc_id: "HGNC:59" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:59" - disease_label: pulmonary arterial hypertension - mondo_id: "MONDO:0015924" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0015924" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/24/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: moderate evidence (10/10/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14b1739d-8890-4927-8efb-e909f48bad5a-2022-10-10T160000.000Z" - gene_disease_validity_gceps: Pulmonary Hypertension - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCC8 - hgnc_id: "HGNC:59" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:59" - disease_label: "hyperinsulinemic hypoglycemia, familial, 1" - mondo_id: "MONDO:0009734" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009734" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/24/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCC9 - hgnc_id: "HGNC:60" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:60" - disease_label: dilated cardiomyopathy - mondo_id: "MONDO:0005021" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0005021" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: limited evidence (11/13/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2020-11-13T170000.000Z" - gene_disease_validity_gceps: Dilated Cardiomyopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCD1 - hgnc_id: "HGNC:61" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:61" - disease_label: adrenoleukodystrophy - mondo_id: "MONDO:0018544" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0018544" - mode_of_inheritance: X-linked inheritance - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (12/02/2020) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/02/2020) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (12/18/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: Assertion Pending (11/16/2016) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117" - actionability_groups: Adult Actionability Working Group + ncbi_gene_id: "6833" + genomic_location: "chr11:17414432-17498392" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009734" + triplosensitivity_disease_id: ~ - gene_symbol: ABCD1 - hgnc_id: "HGNC:61" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:61" - disease_label: X-linked cerebral adrenoleukodystrophy - mondo_id: "MONDO:0010247" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010247" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (12/02/2020) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/02/2020) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: Assertion Pending (11/16/2016) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117" - actionability_groups: Adult Actionability Working Group -- gene_symbol: ABCD3 - hgnc_id: "HGNC:67" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:67" - disease_label: congenital bile acid synthesis defect 5 - mondo_id: "MONDO:0014564" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014564" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: limited evidence (04/15/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8d82e6f-8ee8-4944-898b-165916c13cac-2022-04-15T160000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCG5 - hgnc_id: "HGNC:13886" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:13886" - disease_label: sitosterolemia - mondo_id: "MONDO:0008863" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008863" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (07/10/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "215" + genomic_location: "chrX:152990323-153010216" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0018544" + triplosensitivity_disease_id: ~ - gene_symbol: ABCG5 - hgnc_id: "HGNC:13886" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:13886" - disease_label: sitosterolemia 1 - mondo_id: "MONDO:0020747" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0020747" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "64240" + genomic_location: "chr2:44039611-44065958" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0020747" + triplosensitivity_disease_id: ~ - gene_symbol: ABCG8 - hgnc_id: "HGNC:13887" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:13887" - disease_label: sitosterolemia - mondo_id: "MONDO:0008863" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008863" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13887" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (07/14/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABCG8 - hgnc_id: "HGNC:13887" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:13887" - disease_label: sitosterolemia 1 - mondo_id: "MONDO:0020747" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0020747" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13887" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "64241" + genomic_location: "chr2:44066103-44105605" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0020747" + triplosensitivity_disease_id: ~ - gene_symbol: ABHD12 - hgnc_id: "HGNC:15868" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:15868" - disease_label: PHARC syndrome - mondo_id: "MONDO:0012984" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012984" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/11/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15868" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (06/26/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-26T160000.000Z" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ABHD5 - hgnc_id: "HGNC:21396" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21396" - disease_label: Dorfman-Chanarin disease - mondo_id: "MONDO:0010155" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010155" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (08/02/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19bf65b3-0c75-46e2-8796-5664ce6dd371-2022-08-02T160000.000Z" - gene_disease_validity_gceps: Lysosomal Diseases - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "26090" + genomic_location: "chr20:25275379-25371618" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012984" + triplosensitivity_disease_id: ~ +- gene_symbol: ABR + ncbi_gene_id: "29" + genomic_location: "chr17:906758-1132974" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ABRAXAS1 + ncbi_gene_id: "84142" + genomic_location: "chr4:84382092-84406331" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: ACAD8 - hgnc_id: "HGNC:87" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:87" - disease_label: isobutyryl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0012648" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012648" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/11/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:87" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (04/26/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d260f0e-df71-420a-9281-92e4bddcddbb-2019-04-26T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACAD9 - hgnc_id: "HGNC:21497" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21497" - disease_label: acyl-CoA dehydrogenase 9 deficiency - mondo_id: "MONDO:0012624" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012624" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (03/27/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACADL - hgnc_id: "HGNC:88" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:88" - disease_label: long chain acyl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0020531" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0020531" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: disputing (01/25/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d95637bf-c628-4d23-a0d5-656db55a09a4-2021-01-25T194827.344Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "27034" + genomic_location: "chr11:134123434-134135749" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012648" + triplosensitivity_disease_id: ~ - gene_symbol: ACADM - hgnc_id: "HGNC:89" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:89" - disease_label: medium chain acyl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0008721" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008721" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:89" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (01/23/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb987774-0e5b-4466-924f-6f19fccc6599-2018-01-23T170000.000Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: Strong Actionability (08/03/2020) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016" - actionability_groups: Pediatric Actionability Working Group -- gene_symbol: ACADS - hgnc_id: "HGNC:90" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:90" - disease_label: short chain acyl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0008722" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008722" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (01/23/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bc94e9-cdf2-4efb-b654-004541efc344-2018-01-23T170000.000Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "34" + genomic_location: "chr1:76190032-76229364" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008721" + triplosensitivity_disease_id: ~ - gene_symbol: ACADSB - hgnc_id: "HGNC:91" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:91" - disease_label: 2-methylbutyryl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0012392" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012392" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:91" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (03/22/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f-2019-03-22T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "36" + genomic_location: "chr10:124768429-124817806" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0012392" + triplosensitivity_disease_id: ~ - gene_symbol: ACADVL - hgnc_id: "HGNC:92" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:92" - disease_label: very long chain acyl-CoA dehydrogenase deficiency - mondo_id: "MONDO:0008723" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008723" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:92" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (02/20/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130ca053-9f40-4fd5-b89c-b9b374694fda-2018-02-20T170000.000Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: Assertion Pending (03/08/2017) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC126" - actionability_groups: Adult Actionability Working Group -- gene_symbol: ACAT1 - hgnc_id: "HGNC:93" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:93" - disease_label: beta-ketothiolase deficiency - mondo_id: "MONDO:0008760" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008760" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (05/22/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACAT2 - hgnc_id: "HGNC:94" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:94" - disease_label: acetyl-CoA acetyltransferase-2 deficiency - mondo_id: "MONDO:0013548" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013548" - mode_of_inheritance: Mode of inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: no known disease relationship (01/25/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cb46678-6e33-4d34-86ba-fdf59e59fb80-2021-01-25T194853.212Z" - gene_disease_validity_gceps: Fatty Acid Oxidation Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACBD5 - hgnc_id: "HGNC:23338" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:23338" - disease_label: acyl-CoA binding domain containing protein 5 deficiency - mondo_id: "MONDO:0100112" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100112" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: moderate evidence (04/15/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac052f6-de8d-4c14-adf2-bbecb624defd-2022-04-15T160000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACOX1 - hgnc_id: "HGNC:119" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:119" - disease_label: peroxisomal acyl-CoA oxidase deficiency - mondo_id: "MONDO:0009919" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009919" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/20/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (11/04/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2022-11-04T160000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "37" + genomic_location: "chr17:7120444-7128586" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008723" + triplosensitivity_disease_id: ~ +- gene_symbol: ACD + ncbi_gene_id: "65057" + genomic_location: "chr16:67691415-67694718" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: ACOX1 - hgnc_id: "HGNC:119" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:119" - disease_label: Mitchell syndrome - mondo_id: "MONDO:0030073" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0030073" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/20/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: strong evidence (12/29/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2efeef00-0803-472b-8e25-080e4728c018-2022-12-29T170000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACOX2 - hgnc_id: "HGNC:120" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:120" - disease_label: congenital bile acid synthesis defect 6 - mondo_id: "MONDO:0015015" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0015015" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: moderate evidence (05/20/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5627eadb-12f9-4768-915c-3da73c425650-2022-05-20T171935.296Z" - gene_disease_validity_gceps: General Inborn Errors of Metabolism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "51" + genomic_location: "chr17:73937588-73975515" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009919" + triplosensitivity_disease_id: ~ - gene_symbol: ACP5 - hgnc_id: "HGNC:124" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:124" - disease_label: Spondyloenchondrodysplasia with immune dysregulation - mondo_id: "MONDO:0011939" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0011939" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:124" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "54" + genomic_location: "chr19:11685475-11689823" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011939" + triplosensitivity_disease_id: ~ - gene_symbol: ACSF3 - hgnc_id: "HGNC:27288" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:27288" - disease_label: combined malonic and methylmalonic acidemia - mondo_id: "MONDO:0013661" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013661" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27288" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (10/09/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACSL4 - hgnc_id: "HGNC:3571" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:3571" - disease_label: non-syndromic X-linked intellectual disability - mondo_id: "MONDO:0019181" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019181" - mode_of_inheritance: X-linked inheritance - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (04/28/2021) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (04/28/2021) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (01/10/2023) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4da722c-f7fc-4dc4-ad19-1d1b023d488f-2023-01-10T190000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "197322" + genomic_location: "chr16:89160217-89222254" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013661" + triplosensitivity_disease_id: ~ - gene_symbol: ACSL4 - hgnc_id: "HGNC:3571" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:3571" - disease_label: "intellectual disability, X-linked 63" - mondo_id: "MONDO:0010313" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010313" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (04/28/2021) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (04/28/2021) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTA1 - hgnc_id: "HGNC:129" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:129" - disease_label: alpha-actinopathy - mondo_id: "MONDO:0100084" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100084" - mode_of_inheritance: Semidominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (01/13/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a8d04be-c08f-444b-b9cd-cd7de2e282c2-2020-01-13T170000.000Z" - gene_disease_validity_gceps: Congenital Myopathies - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "2182" + genomic_location: "chrX:108884559-108976632" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010313" + triplosensitivity_disease_id: ~ - gene_symbol: ACTA2 - hgnc_id: "HGNC:130" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:130" - disease_label: familial thoracic aortic aneurysm and aortic dissection - mondo_id: "MONDO:0019625" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019625" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (09/28/2022) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (09/28/2022) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:130" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (09/27/2016) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8249" - gene_disease_validity_gceps: Heritable Thoracic Aortic Aneurysm and Dissection - actionability_assertion_classifications: Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134" - actionability_groups: Adult Actionability Working Group | Pediatric Actionability Working Group -- gene_symbol: ACTB - hgnc_id: "HGNC:132" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:132" - disease_label: Baraitser-Winter cerebrofrontofacial syndrome - mondo_id: "MONDO:0017579" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0017579" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (10/26/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa13dfad-ab93-4521-874a-5ede8f608fe4-2021-10-26T165835.977Z" - gene_disease_validity_gceps: Brain Malformations - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTB - hgnc_id: "HGNC:132" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:132" - disease_label: ACTB-associated syndromic thrombocytopenia - mondo_id: "MONDO:0100433" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100433" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: moderate evidence (05/25/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cee7fd2-09f7-41dc-9742-542917d856b0-2022-05-25T160000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "59" + genomic_location: "chr10:90694831-90751154" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: ACTB - hgnc_id: "HGNC:132" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:132" - disease_label: syndromic intellectual disability - mondo_id: "MONDO:0000508" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0000508" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/08/2022) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "60" + genomic_location: "chr7:5566779-5570232" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0000508" + triplosensitivity_disease_id: ~ - gene_symbol: ACTC1 - hgnc_id: "HGNC:143" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:143" - disease_label: arrhythmogenic right ventricular cardiomyopathy - mondo_id: "MONDO:0016587" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0016587" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (11/17/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/17/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: no known disease relationship (03/15/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d4255-ef43-4b42-b9f1-1cdbc50de763-2019-03-15T160000.000Z" - gene_disease_validity_gceps: Arrhythmogenic Right Ventricular Cardiomyopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTC1 - hgnc_id: "HGNC:143" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:143" - disease_label: dilated cardiomyopathy - mondo_id: "MONDO:0005021" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0005021" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (11/17/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/17/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: moderate evidence (08/12/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2020-08-12T160000.000Z" - gene_disease_validity_gceps: Dilated Cardiomyopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTC1 - hgnc_id: "HGNC:143" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:143" - disease_label: hypertrophic cardiomyopathy - mondo_id: "MONDO:0005045" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0005045" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (11/17/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/17/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (06/23/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f62793b-0015-46eb-bb51-bddbae25ba0d-2021-06-23T201616.296Z" - gene_disease_validity_gceps: Hypertrophic Cardiomyopathy - actionability_assertion_classifications: Assertion Pending (08/14/2017) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056" - actionability_groups: Adult Actionability Working Group -- gene_symbol: ACTC1 - hgnc_id: "HGNC:143" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:143" - disease_label: familial hypertrophic cardiomyopathy - mondo_id: "MONDO:0024573" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0024573" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (11/17/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/17/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: Assertion Pending (08/14/2017) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056" - actionability_groups: Adult Actionability Working Group -- gene_symbol: ACTC1 - hgnc_id: "HGNC:143" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:143" - disease_label: hypertrophic cardiomyopathy 11 - mondo_id: "MONDO:0012799" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012799" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 1 - Little Evidence for Haploinsufficiency (11/17/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/17/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: Assertion Pending (08/14/2017) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056" - actionability_groups: Adult Actionability Working Group -- gene_symbol: ACTG1 - hgnc_id: "HGNC:144" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:144" - disease_label: ~ - mondo_id: "CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1" - disease_url: "https://search.clinicalgenome.org/kb/conditions/CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTG1 - hgnc_id: "HGNC:144" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:144" - disease_label: Baraitser-winter syndrome 2 - mondo_id: "MONDO:0013812" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013812" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (01/07/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab-2019-01-07T170000.000Z" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTG1 - hgnc_id: "HGNC:144" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:144" - disease_label: nonsyndromic genetic hearing loss - mondo_id: "MONDO:0019497" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019497" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (01/07/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e-2019-01-07T170000.000Z" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "70" + genomic_location: "chr15:35080297-35087927" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ - gene_symbol: ACTL6B - hgnc_id: "HGNC:160" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:160" - disease_label: developmental and epileptic encephalopathy - mondo_id: "MONDO:0100062" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100062" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/23/2022) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:160" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTN1 - hgnc_id: "HGNC:163" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:163" - disease_label: platelet-type bleeding disorder 15 - mondo_id: "MONDO:0014078" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014078" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (11/25/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACTN2 - hgnc_id: "HGNC:164" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:164" - disease_label: intrinsic cardiomyopathy - mondo_id: "MONDO:0000591" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0000591" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: moderate evidence (08/06/2018) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6710e329-d391-4355-85a5-02d03f8791a3-2018-08-06T131255.615Z" - gene_disease_validity_gceps: Hypertrophic Cardiomyopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ACVRL1 - hgnc_id: "HGNC:175" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:175" - disease_label: "telangiectasia, hereditary hemorrhagic, type 2" - mondo_id: "MONDO:0010880" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010880" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (11/10/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/10/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (12/05/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbbb72c5-84a0-4096-8d49-6df506cfee0e-2022-12-05T170000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107" - actionability_groups: Adult Actionability Working Group | Pediatric Actionability Working Group + ncbi_gene_id: "51412" + genomic_location: "chr7:100240720-100254084" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0100062" + triplosensitivity_disease_id: ~ - gene_symbol: ACVRL1 - hgnc_id: "HGNC:175" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:175" - disease_label: hereditary hemorrhagic telangiectasia - mondo_id: "MONDO:0019180" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019180" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (11/10/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/10/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022) - actionability_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107" - actionability_groups: Adult Actionability Working Group | Pediatric Actionability Working Group -- gene_symbol: ACY1 - hgnc_id: "HGNC:177" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:177" - disease_label: aminoacylase 1 deficiency - mondo_id: "MONDO:0012368" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012368" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (09/25/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADA - hgnc_id: "HGNC:186" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:186" - disease_label: "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" - mondo_id: "MONDO:0007064" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0007064" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (11/19/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664ba77c-3db6-47da-941e-316ac819432a-2020-11-19T170000.000Z" - gene_disease_validity_gceps: SCID-CID - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADA2 - hgnc_id: "HGNC:1839" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:1839" - disease_label: deficiency of adenosine deaminase 2 - mondo_id: "MONDO:0100317" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100317" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1839" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (05/30/2023) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e05f1338-6a58-4991-af3b-6433bd165a9f-2023-05-30T170000.000Z" - gene_disease_validity_gceps: Antibody Deficiencies GCEP - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "94" + genomic_location: "chr12:52301202-52317145" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010880" + triplosensitivity_disease_id: ~ - gene_symbol: ADA2 - hgnc_id: "HGNC:1839" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:1839" - disease_label: vasculitis due to ADA2 deficiency - mondo_id: "MONDO:0014306" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014306" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1839" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "51816" + genomic_location: "chr22:17659680-17702744" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0014306" + triplosensitivity_disease_id: ~ - gene_symbol: ADAM9 - hgnc_id: "HGNC:216" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:216" - disease_label: ADAM9-related retinopathy - mondo_id: "MONDO:0800398" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0800398" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/11/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (09/01/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c648ec73-186d-4680-93ea-29f5fdf91812-2022-09-01T160000.000Z" - gene_disease_validity_gceps: Retina - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADAM9 - hgnc_id: "HGNC:216" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:216" - disease_label: cone-rod dystrophy 9 - mondo_id: "MONDO:0013002" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013002" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/11/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "8754" + genomic_location: "chr8:38854505-38962780" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013002" + triplosensitivity_disease_id: ~ - gene_symbol: ADAMTS13 - hgnc_id: "HGNC:1366" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:1366" - disease_label: congenital thrombotic thrombocytopenic purpura - mondo_id: "MONDO:0010122" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010122" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1366" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (03/25/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442c328-21be-482d-9ea9-ce694c1a5dd9-2020-03-25T160000.000Z" - gene_disease_validity_gceps: Hemostasis Thrombosis - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "11093" + genomic_location: "chr9:136279459-136324525" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0010122" + triplosensitivity_disease_id: ~ - gene_symbol: ADAMTS17 - hgnc_id: "HGNC:17109" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:17109" - disease_label: "Weill-Marchesani 4 syndrome, recessive" - mondo_id: "MONDO:0013176" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013176" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17109" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "170691" + genomic_location: "chr15:100511643-100882210" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013176" + triplosensitivity_disease_id: ~ - gene_symbol: ADAMTS18 - hgnc_id: "HGNC:17110" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:17110" - disease_label: microcornea-myopic chorioretinal atrophy - mondo_id: "MONDO:0014195" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014195" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17110" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (03/02/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95caeabe-f92c-4884-87b4-ed97f15769f3-2022-03-02T212447.170Z" - gene_disease_validity_gceps: Retina - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "170692" + genomic_location: "chr16:77316025-77469011" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014195" + triplosensitivity_disease_id: ~ - gene_symbol: ADAMTS2 - hgnc_id: "HGNC:218" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:218" - disease_label: "Ehlers-Danlos syndrome, dermatosparaxis type" - mondo_id: "MONDO:0009161" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009161" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:218" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADAMTS9 - hgnc_id: "HGNC:13202" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:13202" - disease_label: ciliopathy - mondo_id: "MONDO:0005308" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0005308" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: limited evidence (05/11/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8-2022-05-11T160000.000Z" - gene_disease_validity_gceps: Kidney Cystic and Ciliopathy Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "9509" + genomic_location: "chr5:178537852-178772431" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009161" + triplosensitivity_disease_id: ~ - gene_symbol: ADAMTSL2 - hgnc_id: "HGNC:14631" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:14631" - disease_label: geleophysic dysplasia 1 - mondo_id: "MONDO:0009269" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009269" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14631" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADAR - hgnc_id: "HGNC:225" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:225" - disease_label: Leigh syndrome - mondo_id: "MONDO:0009723" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009723" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: limited evidence (08/27/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03f538b5-43af-4699-9ddb-264077de21c9-2020-08-27T164642.352Z" - gene_disease_validity_gceps: Mitochondrial Diseases - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADCY1 - hgnc_id: "HGNC:232" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:232" - disease_label: "hearing loss, autosomal recessive" - mondo_id: "MONDO:0019588" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019588" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: limited evidence (05/10/2017) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8152" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADD3 - hgnc_id: "HGNC:245" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:245" - disease_label: complex neurodevelopmental disorder with motor features - mondo_id: "MONDO:0100516" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100516" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: moderate evidence (08/15/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a858435-3e50-406f-8ec3-9f4e40b1c392-2022-08-15T180000.000Z" - gene_disease_validity_gceps: Cerebral Palsy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "9719" + genomic_location: "chr9:136397286-136440641" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009269" + triplosensitivity_disease_id: ~ - gene_symbol: ADGRG1 - hgnc_id: "HGNC:4512" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:4512" - disease_label: bilateral frontoparietal polymicrogyria - mondo_id: "MONDO:0011738" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0011738" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (05/17/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4512" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADGRV1 - hgnc_id: "HGNC:17416" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:17416" - disease_label: nonsyndromic genetic hearing loss - mondo_id: "MONDO:0019497" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019497" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/23/2021) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: disputing (03/19/2019) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f3dc96a-8fd3-4d30-98fd-1b1cf264e818-2019-03-19T160000.000Z" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "9289" + genomic_location: "chr16:57653605-57698951" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011738" + triplosensitivity_disease_id: ~ - gene_symbol: ADGRV1 - hgnc_id: "HGNC:17416" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:17416" - disease_label: Usher syndrome type 2 - mondo_id: "MONDO:0016484" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0016484" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/23/2021) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (02/15/2017) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992d2cd7-5305-4278-9601-3e59ac1a8770-2017-02-15T170000.000Z" - gene_disease_validity_gceps: Hearing Loss - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: ADK - hgnc_id: "HGNC:257" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:257" - disease_label: adenosine kinase deficiency - mondo_id: "MONDO:0100255" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100255" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (04/08/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2319ca2-652d-411e-ab6d-5b7fb7e185ea-2021-04-08T160000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "84059" + genomic_location: "chr5:89854617-90460033" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0016484" + triplosensitivity_disease_id: ~ - gene_symbol: ADNP - hgnc_id: "HGNC:15766" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:15766" - disease_label: ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder - mondo_id: "MONDO:0014379" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014379" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (11/22/2017) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/22/2017) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15766" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (01/15/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837200e1-ed55-415b-bd9e-6649e4abab1d-2020-01-15T170000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "23394" + genomic_location: "chr20:49505455-49547750" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014379" + triplosensitivity_disease_id: ~ - gene_symbol: ADSL - hgnc_id: "HGNC:291" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:291" - disease_label: adenylosuccinate lyase deficiency - mondo_id: "MONDO:0007068" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0007068" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/06/2015) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/06/2015) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:291" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (09/07/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d282f565-84e4-4a47-9acc-77ee31bbe9f6-2020-09-07T160000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AFF2 - hgnc_id: "HGNC:3776" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:3776" - disease_label: non-syndromic X-linked intellectual disability - mondo_id: "MONDO:0019181" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0019181" - mode_of_inheritance: X-linked inheritance - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (12/08/2020) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/08/2020) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (10/20/2017) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4216e3-61b7-4542-ad3a-8788a7ef8b63-2017-10-20T040000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "158" + genomic_location: "chr22:40742504-40762752" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0007068" + triplosensitivity_disease_id: ~ - gene_symbol: AFF2 - hgnc_id: "HGNC:3776" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:3776" - disease_label: FRAXE intellectual disability - mondo_id: "MONDO:0010659" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010659" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (12/08/2020) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (12/08/2020) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "2334" + genomic_location: "chrX:147582139-148082193" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010659" + triplosensitivity_disease_id: ~ - gene_symbol: AGA - hgnc_id: "HGNC:318" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:318" - disease_label: aspartylglucosaminuria - mondo_id: "MONDO:0008830" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008830" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:318" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (09/02/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f315b4a-1a3b-4deb-90fd-2b73f732a4ba-2022-09-02T160000.000Z" - gene_disease_validity_gceps: Lysosomal Diseases - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "175" + genomic_location: "chr4:178351928-178363657" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0008830" + triplosensitivity_disease_id: ~ - gene_symbol: AGK - hgnc_id: "HGNC:21869" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21869" - disease_label: Sengers syndrome - mondo_id: "MONDO:0008922" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0008922" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/20/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21869" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AGL - hgnc_id: "HGNC:321" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:321" - disease_label: glycogen storage disease III - mondo_id: "MONDO:0009291" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009291" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (02/24/2023) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7b762bc-a12f-4194-91b9-764784248cc7-2023-02-24T170000.000Z" - gene_disease_validity_gceps: General Inborn Errors of Metabolism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "55750" + genomic_location: "chr7:141251078-141354209" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008922" + triplosensitivity_disease_id: ~ - gene_symbol: AGPAT2 - hgnc_id: "HGNC:325" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:325" - disease_label: congenital generalized lipodystrophy type 1 - mondo_id: "MONDO:0012071" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012071" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:325" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AGPS - hgnc_id: "HGNC:327" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:327" - disease_label: alkylglycerone-phosphate synthase deficiency - mondo_id: "MONDO:0100274" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100274" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: ~ - dosage_triplosensitivity_assertion: ~ - dosage_report: ~ - dosage_group: ~ - gene_disease_validity_assertion_classifications: definitive evidence (04/22/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba640e2-c95d-414b-8c72-d22769e4366a-2022-04-22T160000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "10555" + genomic_location: "chr9:139567595-139581911" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012071" + triplosensitivity_disease_id: ~ - gene_symbol: AGRN - hgnc_id: "HGNC:329" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:329" - disease_label: congenital myasthenic syndrome 8 - mondo_id: "MONDO:0014052" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014052" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (08/22/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:329" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "375790" + genomic_location: "chr1:955503-991499" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014052" + triplosensitivity_disease_id: ~ - gene_symbol: AGT - hgnc_id: "HGNC:333" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:333" - disease_label: renal tubular dysgenesis of genetic origin - mondo_id: "MONDO:0009970" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009970" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2014) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (11/13/2014) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:333" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "183" + genomic_location: "chr1:230838269-230850336" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009970" + triplosensitivity_disease_id: ~ - gene_symbol: AGTR2 - hgnc_id: "HGNC:338" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:338" - disease_label: X-linked complex neurodevelopmental disorder - mondo_id: "MONDO:0100148" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100148" - mode_of_inheritance: X-linked inheritance - dosage_haploinsufficiency_assertion: 0 - No Evidence for Haploinsufficiency (05/10/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (05/10/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: disputing (06/02/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57-2020-06-02T160000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AGTR2 - hgnc_id: "HGNC:338" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:338" - disease_label: "intellectual disability, X-linked 88" - mondo_id: "MONDO:0010454" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0010454" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 0 - No Evidence for Haploinsufficiency (05/10/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (05/10/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" -- gene_symbol: AGXT - hgnc_id: "HGNC:341" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:341" - disease_label: alanine glyoxylate aminotransferase deficiency - mondo_id: "MONDO:0100278" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0100278" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (02/07/2020) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8460f17d-4d94-4a0c-ac46-41c86ce32e83-2020-02-07T170000.000Z" - gene_disease_validity_gceps: Peroxisomal Disorders - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "186" + genomic_location: "chrX:115301958-115306225" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010454" + triplosensitivity_disease_id: ~ - gene_symbol: AGXT - hgnc_id: "HGNC:341" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:341" - disease_label: primary hyperoxaluria type 1 - mondo_id: "MONDO:0009823" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0009823" - mode_of_inheritance: N/A - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016) - dosage_triplosensitivity_assertion: ~ - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: "" - gene_disease_validity_assertion_reports: "" - gene_disease_validity_gceps: "" - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "189" + genomic_location: "chr2:241808162-241818536" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0009823" + triplosensitivity_disease_id: ~ - gene_symbol: AHCY - hgnc_id: "HGNC:343" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:343" - disease_label: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase - mondo_id: "MONDO:0013404" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0013404" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (06/08/2016) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (06/08/2016) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:343" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: moderate evidence (12/12/2022) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9b3a56b-b188-44d1-9983-a059895c0ba1-2022-12-12T170000.000Z" - gene_disease_validity_gceps: Aminoacidopathy - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "191" + genomic_location: "chr20:32868071-32899608" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013404" + triplosensitivity_disease_id: ~ - gene_symbol: AHDC1 - hgnc_id: "HGNC:25230" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:25230" - disease_label: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome - mondo_id: "MONDO:0014358" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0014358" - mode_of_inheritance: Autosomal dominant inheritance - dosage_haploinsufficiency_assertion: 3 - Sufficient Evidence for Haploinsufficiency (02/28/2018) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (02/28/2018) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25230" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (11/16/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z" - gene_disease_validity_gceps: Intellectual Disability and Autism - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "27245" + genomic_location: "chr1:27860756-27930143" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014358" + triplosensitivity_disease_id: ~ - gene_symbol: AHI1 - hgnc_id: "HGNC:21575" - gene_url: "https://search.clinicalgenome.org/kb/genes/HGNC:21575" - disease_label: Joubert syndrome 3 - mondo_id: "MONDO:0012078" - disease_url: "https://search.clinicalgenome.org/kb/conditions/MONDO:0012078" - mode_of_inheritance: Autosomal recessive inheritance - dosage_haploinsufficiency_assertion: 30 - Gene Associated with Autosomal Recessive Phenotype (09/06/2012) - dosage_triplosensitivity_assertion: 0 - No Evidence for Haploinsufficiency (09/06/2012) - dosage_report: "https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21575" - dosage_group: Dosage Working Group - gene_disease_validity_assertion_classifications: definitive evidence (10/26/2021) - gene_disease_validity_assertion_reports: "https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z" - gene_disease_validity_gceps: Brain Malformations - actionability_assertion_classifications: "" - actionability_assertion_reports: "" - actionability_groups: "" + ncbi_gene_id: "54806" + genomic_location: "chr6:135605110-135818903" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012078" + triplosensitivity_disease_id: ~ diff --git a/tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv b/tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv new file mode 100644 index 00000000..cb44aa02 --- /dev/null +++ b/tests/genes/clingen/ClinGen_gene_curation_list_GRCh37.tsv @@ -0,0 +1,56 @@ +#ClinGen Gene Curation Results +#14 Nov,2023 +#Genomic Locations are reported on GRCh37 (hg19): GCF_000001405.13 +#https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen +#to create link: https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=Gene Symbol +#Gene Symbol Gene ID cytoBand Genomic Location Haploinsufficiency Score Haploinsufficiency Description Haploinsufficiency PMID1 Haploinsufficiency PMID2 Haploinsufficiency PMID3 Haploinsufficiency PMID4 Haploinsufficiency PMID5 Haploinsufficiency PMID6 Triplosensitivity Score Triplosensitivity Description Triplosensitivity PMID1 Triplosensitivity PMID2 Triplosensitivity PMID3 Triplosensitivity PMID4 Triplosensitivity PMID5 Triplosensitivity PMID6 Date Last Evaluated Haploinsufficiency Disease ID Triplosensitivity Disease ID +A4GALT 53947 22q13.2 chr22:43088121-43117307 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 +AAGAB 79719 15q23 chr15:67493013-67547536 3 Sufficient evidence for dosage pathogenicity 23064416 23000146 0 No evidence available 2013-02-28 MONDO:0007858 +AARS1 16 16q22.1 chr16:70286297-70323412 0 No evidence available 0 No evidence available 2018-01-11 +AARS2 57505 6p21.1 chr6:44266463-44281063 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014387 +AASS 10157 7q31.32 chr7:121713598-121784344 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009388 +ABAT 18 16p13.2 chr16:8768444-8878432 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0013166 +ABCB11 8647 2q31.1 chr2:169779449-169887833 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2020-07-08 MONDO:0011156 +ABCC8 6833 11p15.1 chr11:17414432-17498392 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-02-24 MONDO:0009734 +ABCD1 215 Xq28 chrX:152990323-153010216 3 Sufficient evidence for dosage pathogenicity 8040304 23835273 25835712 7825602 0 No evidence available 2020-12-02 MONDO:0018544 +ABCG5 64240 2p21 chr2:44039611-44065958 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0020747 +ABCG8 64241 2p21 chr2:44066103-44105605 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0020747 +ABHD12 26090 20p11.21 chr20:25275379-25371618 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 MONDO:0012984 +ABR 29 17p13.3 chr17:906758-1132974 0 No evidence available 0 No evidence available 2012-09-05 +ABRAXAS1 84142 4q21.23 chr4:84382092-84406331 0 No evidence available 31159747 37198153 29484706 0 No evidence available 2023-07-18 +ACAD8 27034 11q25 chr11:134123434-134135749 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 MONDO:0012648 +ACADM 34 1p31.1 chr1:76190032-76229364 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008721 +ACADSB 36 10q26.13 chr10:124768429-124817806 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0012392 +ACADVL 37 17p13.1 chr17:7120444-7128586 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0008723 +ACD 65057 16q22.1 chr16:67691415-67694718 1 Little evidence for dosage pathogenicity 25505254 0 No evidence available 2019-10-09 +ACOX1 51 17q25.1 chr17:73937588-73975515 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-20 MONDO:0009919 +ACP5 54 19p13.2 chr19:11685475-11689823 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0011939 +ACSF3 197322 16q24.3 chr16:89160217-89222254 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013661 +ACSL4 2182 Xq23 chrX:108884559-108976632 1 Little evidence for dosage pathogenicity 11889465 12525535 21584729 31481330 26350204 22581936 0 No evidence available 2021-04-28 MONDO:0010313 +ACTA2 59 10q23.31 chr10:90694831-90751154 1 Little evidence for dosage pathogenicity 32209317 30056620 34498425 0 No evidence available 2022-09-28 +ACTB 60 7p22.1 chr7:5566779-5570232 0 No evidence available 29220674 31898838 30315159 29274487 0 No evidence available 2022-02-08 MONDO:0000508 +ACTC1 70 15q14 chr15:35080297-35087927 1 Little evidence for dosage pathogenicity 17947298 24503780 0 No evidence available 2015-11-17 +ACTL6B 51412 7q22.1 chr7:100240720-100254084 30 Gene associated with autosomal recessive phenotype 32312822 30656450 31031012 Not yet evaluated Not yet evaluated 2022-11-23 MONDO:0100062 +ACVRL1 94 12q13.13 chr12:52301202-52317145 3 Sufficient evidence for dosage pathogenicity 18312453 20414677 0 No evidence available 2016-11-10 MONDO:0010880 +ADA2 51816 22q11.1 chr22:17659680-17702744 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0014306 +ADAM9 8754 8p11.22 chr8:38854505-38962780 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-12-11 MONDO:0013002 +ADAMTS13 11093 9q34.2 chr9:136279459-136324525 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0010122 +ADAMTS17 170691 15q26.3 chr15:100511643-100882210 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0013176 +ADAMTS18 170692 16q23.1 chr16:77316025-77469011 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014195 +ADAMTS2 9509 5q35.3 chr5:178537852-178772431 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009161 +ADAMTSL2 9719 9q34.2 chr9:136397286-136440641 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0009269 +ADGRG1 9289 16q21 chr16:57653605-57698951 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-05-17 MONDO:0011738 +ADGRV1 84059 5q14.3 chr5:89854617-90460033 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2021-08-23 MONDO:0016484 +ADNP 23394 20q13.13 chr20:49505455-49547750 3 Sufficient evidence for dosage pathogenicity 24531329 25533962 0 No evidence available 2017-11-22 MONDO:0014379 +ADSL 158 22q13.1 chr22:40742504-40762752 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2015-11-05 MONDO:0007068 +AFF2 2334 Xq28 chrX:147582139-148082193 3 Sufficient evidence for dosage pathogenicity 22065534 21739600 8673085 0 No evidence available 2020-12-08 MONDO:0010659 +AGA 175 4q34.3 chr4:178351928-178363657 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0008830 +AGK 55750 7q34 chr7:141251078-141354209 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-20 MONDO:0008922 +AGPAT2 10555 9q34.3 chr9:139567595-139581911 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0012071 +AGRN 375790 1p36.33 chr1:955503-991499 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-08-22 MONDO:0014052 +AGT 183 1q42.2 chr1:230838269-230850336 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2014-11-13 MONDO:0009970 +AGTR2 186 Xq23 chrX:115301958-115306225 0 No evidence available 0 No evidence available 2012-05-10 MONDO:0010454 +AGXT 189 2q37.3 chr2:241808162-241818536 30 Gene associated with autosomal recessive phenotype Not yet evaluated Not yet evaluated 2016-08-22 MONDO:0009823 +AHCY 191 20q11.22 chr20:32868071-32899608 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2016-06-08 MONDO:0013404 +AHDC1 27245 1p36.11-p35.3 chr1:27860756-27930143 3 Sufficient evidence for dosage pathogenicity 24791903 27148574 29230160 0 No evidence available 2018-02-28 MONDO:0014358 +AHI1 54806 6q23.3 chr6:135605110-135818903 30 Gene associated with autosomal recessive phenotype 0 No evidence available 2012-09-06 MONDO:0012078 diff --git a/tests/genes/clingen/clingen.csv b/tests/genes/clingen/clingen.csv deleted file mode 100644 index 474f5e85..00000000 --- a/tests/genes/clingen/clingen.csv +++ /dev/null @@ -1,97 +0,0 @@ -"gene_symbol","hgnc_id","gene_url","disease_label","mondo_id","disease_url","mode_of_inheritance","dosage_haploinsufficiency_assertion","dosage_triplosensitivity_assertion","dosage_report","dosage_group","gene_disease_validity_assertion_classifications","gene_disease_validity_assertion_reports","gene_disease_validity_gceps","actionability_assertion_classifications","actionability_assertion_reports","actionability_groups" -"A2ML1","HGNC:23336","https://search.clinicalgenome.org/kb/genes/HGNC:23336","Noonan syndrome","MONDO:0018997","https://search.clinicalgenome.org/kb/conditions/MONDO:0018997","Autosomal dominant inheritance","","","","","disputing (06/07/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d910a9d8-516e-443d-acba-8d61f7574792-2018-06-07T160000.000Z","RASopathy","","","" -"AAGAB","HGNC:25662","https://search.clinicalgenome.org/kb/genes/HGNC:25662","palmoplantar keratoderma, punctate type 1A","MONDO:0007858","https://search.clinicalgenome.org/kb/conditions/MONDO:0007858","N/A","3 - Sufficient Evidence for Haploinsufficiency (02/28/2013)","0 - No Evidence for Haploinsufficiency (02/28/2013)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25662","Dosage Working Group","","","","","","" -"AARS2","HGNC:21022","https://search.clinicalgenome.org/kb/genes/HGNC:21022","mitochondrial disease","MONDO:0044970","https://search.clinicalgenome.org/kb/conditions/MONDO:0044970","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022","Dosage Working Group","definitive evidence (04/18/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_583e237c-18f6-4427-a04f-82ea0f020daf-2022-04-18T160000.000Z","Mitochondrial Diseases","","","" -"AARS2","HGNC:21022","https://search.clinicalgenome.org/kb/genes/HGNC:21022","leukoencephalopathy, progressive, with ovarian failure","MONDO:0014387","https://search.clinicalgenome.org/kb/conditions/MONDO:0014387","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21022","Dosage Working Group","","","","","","" -"AASS","HGNC:17366","https://search.clinicalgenome.org/kb/genes/HGNC:17366","hyperlysinemia","MONDO:0009388","https://search.clinicalgenome.org/kb/conditions/MONDO:0009388","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17366","Dosage Working Group","definitive evidence (10/14/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_92e04f9e-f03e-4295-baac-e9fb6b48a258-2022-10-14T160000.000Z","Aminoacidopathy","","","" -"ABAT","HGNC:23","https://search.clinicalgenome.org/kb/genes/HGNC:23","developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23","Dosage Working Group","moderate evidence (04/19/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3a5138ad-d4b8-4ea1-aa78-b5d1f07b2b82-2022-04-19T160000.000Z","Epilepsy","","","" -"ABAT","HGNC:23","https://search.clinicalgenome.org/kb/genes/HGNC:23","GABA aminotransaminase deficiency","MONDO:0013166","https://search.clinicalgenome.org/kb/conditions/MONDO:0013166","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:23","Dosage Working Group","","","","","","" -"ABCA4","HGNC:34","https://search.clinicalgenome.org/kb/genes/HGNC:34","ABCA4-related retinopathy","MONDO:0800406","https://search.clinicalgenome.org/kb/conditions/MONDO:0800406","Autosomal recessive inheritance","","","","","definitive evidence (10/06/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_38729563-bf36-48ae-929e-fa69a225de39-2022-10-06T160000.000Z","Retina","","","" -"ABCB11","HGNC:42","https://search.clinicalgenome.org/kb/genes/HGNC:42","progressive familial intrahepatic cholestasis type 2","MONDO:0011156","https://search.clinicalgenome.org/kb/conditions/MONDO:0011156","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (07/08/2020)","0 - No Evidence for Haploinsufficiency (07/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:42","Dosage Working Group","","","","","","" -"ABCB4","HGNC:45","https://search.clinicalgenome.org/kb/genes/HGNC:45","progressive familial intrahepatic cholestasis type 3","MONDO:0011214","https://search.clinicalgenome.org/kb/conditions/MONDO:0011214","Autosomal recessive inheritance","","","","","definitive evidence (11/23/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_009134d7-b79c-4a90-9bae-c1f302439258-2022-11-23T170000.000Z","General Gene Curation","","","" -"ABCC4","HGNC:55","https://search.clinicalgenome.org/kb/genes/HGNC:55","qualitative platelet defect","MONDO:0001197","https://search.clinicalgenome.org/kb/conditions/MONDO:0001197","Autosomal recessive inheritance","","","","","moderate evidence (05/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2828abac-5b4a-4dad-a703-10c0daf35dbd-2022-05-25T160000.000Z","Hemostasis Thrombosis","","","" -"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","monogenic diabetes","MONDO:0015967","https://search.clinicalgenome.org/kb/conditions/MONDO:0015967","Semidominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Haploinsufficiency (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","definitive evidence (07/24/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33c0dfa5-c6ea-42fd-8118-be6ff97beb3e-2022-07-24T160000.000Z","Monogenic Diabetes","","","" -"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","pulmonary arterial hypertension","MONDO:0015924","https://search.clinicalgenome.org/kb/conditions/MONDO:0015924","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Haploinsufficiency (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","moderate evidence (10/10/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14b1739d-8890-4927-8efb-e909f48bad5a-2022-10-10T160000.000Z","Pulmonary Hypertension","","","" -"ABCC8","HGNC:59","https://search.clinicalgenome.org/kb/genes/HGNC:59","hyperinsulinemic hypoglycemia, familial, 1","MONDO:0009734","https://search.clinicalgenome.org/kb/conditions/MONDO:0009734","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (02/24/2012)","0 - No Evidence for Haploinsufficiency (02/24/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:59","Dosage Working Group","","","","","","" -"ABCC9","HGNC:60","https://search.clinicalgenome.org/kb/genes/HGNC:60","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","","","","","limited evidence (11/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8be22ebc-f0f5-4de5-9c2a-382ebd02c533-2020-11-13T170000.000Z","Dilated Cardiomyopathy","","","" -"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","adrenoleukodystrophy","MONDO:0018544","https://search.clinicalgenome.org/kb/conditions/MONDO:0018544","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Haploinsufficiency (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","definitive evidence (12/18/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_815e0f84-b530-4fd2-81a9-02e02bf352ee-2020-12-18T050000.000Z","Peroxisomal Disorders","Assertion Pending (11/16/2016)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117","Adult Actionability Working Group" -"ABCD1","HGNC:61","https://search.clinicalgenome.org/kb/genes/HGNC:61","X-linked cerebral adrenoleukodystrophy","MONDO:0010247","https://search.clinicalgenome.org/kb/conditions/MONDO:0010247","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/02/2020)","0 - No Evidence for Haploinsufficiency (12/02/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:61","Dosage Working Group","","","","Assertion Pending (11/16/2016)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC117","Adult Actionability Working Group" -"ABCD3","HGNC:67","https://search.clinicalgenome.org/kb/genes/HGNC:67","congenital bile acid synthesis defect 5","MONDO:0014564","https://search.clinicalgenome.org/kb/conditions/MONDO:0014564","Autosomal recessive inheritance","","","","","limited evidence (04/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f8d82e6f-8ee8-4944-898b-165916c13cac-2022-04-15T160000.000Z","Peroxisomal Disorders","","","" -"ABCG5","HGNC:13886","https://search.clinicalgenome.org/kb/genes/HGNC:13886","sitosterolemia","MONDO:0008863","https://search.clinicalgenome.org/kb/conditions/MONDO:0008863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886","Dosage Working Group","definitive evidence (07/10/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z","Hemostasis Thrombosis","","","" -"ABCG5","HGNC:13886","https://search.clinicalgenome.org/kb/genes/HGNC:13886","sitosterolemia 1","MONDO:0020747","https://search.clinicalgenome.org/kb/conditions/MONDO:0020747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13886","Dosage Working Group","","","","","","" -"ABCG8","HGNC:13887","https://search.clinicalgenome.org/kb/genes/HGNC:13887","sitosterolemia","MONDO:0008863","https://search.clinicalgenome.org/kb/conditions/MONDO:0008863","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13887","Dosage Working Group","definitive evidence (07/14/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z","Hemostasis Thrombosis","","","" -"ABCG8","HGNC:13887","https://search.clinicalgenome.org/kb/genes/HGNC:13887","sitosterolemia 1","MONDO:0020747","https://search.clinicalgenome.org/kb/conditions/MONDO:0020747","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:13887","Dosage Working Group","","","","","","" -"ABHD12","HGNC:15868","https://search.clinicalgenome.org/kb/genes/HGNC:15868","PHARC syndrome","MONDO:0012984","https://search.clinicalgenome.org/kb/conditions/MONDO:0012984","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Haploinsufficiency (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15868","Dosage Working Group","definitive evidence (06/26/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ccd68c20-2024-4239-be51-26697e19a6b4-2018-06-26T160000.000Z","Hearing Loss","","","" -"ABHD5","HGNC:21396","https://search.clinicalgenome.org/kb/genes/HGNC:21396","Dorfman-Chanarin disease","MONDO:0010155","https://search.clinicalgenome.org/kb/conditions/MONDO:0010155","Autosomal recessive inheritance","","","","","definitive evidence (08/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_19bf65b3-0c75-46e2-8796-5664ce6dd371-2022-08-02T160000.000Z","Lysosomal Diseases","","","" -"ACAD8","HGNC:87","https://search.clinicalgenome.org/kb/genes/HGNC:87","isobutyryl-CoA dehydrogenase deficiency","MONDO:0012648","https://search.clinicalgenome.org/kb/conditions/MONDO:0012648","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Haploinsufficiency (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:87","Dosage Working Group","definitive evidence (04/26/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_0d260f0e-df71-420a-9281-92e4bddcddbb-2019-04-26T160000.000Z","Aminoacidopathy","","","" -"ACAD9","HGNC:21497","https://search.clinicalgenome.org/kb/genes/HGNC:21497","acyl-CoA dehydrogenase 9 deficiency","MONDO:0012624","https://search.clinicalgenome.org/kb/conditions/MONDO:0012624","Autosomal recessive inheritance","","","","","definitive evidence (03/27/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z","Fatty Acid Oxidation Disorders","","","" -"ACADL","HGNC:88","https://search.clinicalgenome.org/kb/genes/HGNC:88","long chain acyl-CoA dehydrogenase deficiency","MONDO:0020531","https://search.clinicalgenome.org/kb/conditions/MONDO:0020531","Autosomal recessive inheritance","","","","","disputing (01/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d95637bf-c628-4d23-a0d5-656db55a09a4-2021-01-25T194827.344Z","Fatty Acid Oxidation Disorders","","","" -"ACADM","HGNC:89","https://search.clinicalgenome.org/kb/genes/HGNC:89","medium chain acyl-CoA dehydrogenase deficiency","MONDO:0008721","https://search.clinicalgenome.org/kb/conditions/MONDO:0008721","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:89","Dosage Working Group","definitive evidence (01/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fb987774-0e5b-4466-924f-6f19fccc6599-2018-01-23T170000.000Z","Fatty Acid Oxidation Disorders","Strong Actionability (08/03/2020)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1016","Pediatric Actionability Working Group" -"ACADS","HGNC:90","https://search.clinicalgenome.org/kb/genes/HGNC:90","short chain acyl-CoA dehydrogenase deficiency","MONDO:0008722","https://search.clinicalgenome.org/kb/conditions/MONDO:0008722","Autosomal recessive inheritance","","","","","definitive evidence (01/23/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c6bc94e9-cdf2-4efb-b654-004541efc344-2018-01-23T170000.000Z","Fatty Acid Oxidation Disorders","","","" -"ACADSB","HGNC:91","https://search.clinicalgenome.org/kb/genes/HGNC:91","2-methylbutyryl-CoA dehydrogenase deficiency","MONDO:0012392","https://search.clinicalgenome.org/kb/conditions/MONDO:0012392","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:91","Dosage Working Group","definitive evidence (03/22/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8bfa3857-c96c-40ac-b4c1-2cf04fd4eb4f-2019-03-22T160000.000Z","Aminoacidopathy","","","" -"ACADVL","HGNC:92","https://search.clinicalgenome.org/kb/genes/HGNC:92","very long chain acyl-CoA dehydrogenase deficiency","MONDO:0008723","https://search.clinicalgenome.org/kb/conditions/MONDO:0008723","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:92","Dosage Working Group","definitive evidence (02/20/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_130ca053-9f40-4fd5-b89c-b9b374694fda-2018-02-20T170000.000Z","Fatty Acid Oxidation Disorders","Assertion Pending (03/08/2017)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC126","Adult Actionability Working Group" -"ACAT1","HGNC:93","https://search.clinicalgenome.org/kb/genes/HGNC:93","beta-ketothiolase deficiency","MONDO:0008760","https://search.clinicalgenome.org/kb/conditions/MONDO:0008760","Autosomal recessive inheritance","","","","","definitive evidence (05/22/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z","Fatty Acid Oxidation Disorders","","","" -"ACAT2","HGNC:94","https://search.clinicalgenome.org/kb/genes/HGNC:94","acetyl-CoA acetyltransferase-2 deficiency","MONDO:0013548","https://search.clinicalgenome.org/kb/conditions/MONDO:0013548","Mode of inheritance","","","","","no known disease relationship (01/25/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7cb46678-6e33-4d34-86ba-fdf59e59fb80-2021-01-25T194853.212Z","Fatty Acid Oxidation Disorders","","","" -"ACBD5","HGNC:23338","https://search.clinicalgenome.org/kb/genes/HGNC:23338","acyl-CoA binding domain containing protein 5 deficiency","MONDO:0100112","https://search.clinicalgenome.org/kb/conditions/MONDO:0100112","Autosomal recessive inheritance","","","","","moderate evidence (04/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8ac052f6-de8d-4c14-adf2-bbecb624defd-2022-04-15T160000.000Z","Peroxisomal Disorders","","","" -"ACOX1","HGNC:119","https://search.clinicalgenome.org/kb/genes/HGNC:119","peroxisomal acyl-CoA oxidase deficiency","MONDO:0009919","https://search.clinicalgenome.org/kb/conditions/MONDO:0009919","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014)","0 - No Evidence for Haploinsufficiency (11/20/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119","Dosage Working Group","definitive evidence (11/04/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_96026ae4-050d-4eb5-849c-178c703a556e-2022-11-04T160000.000Z","Peroxisomal Disorders","","","" -"ACOX1","HGNC:119","https://search.clinicalgenome.org/kb/genes/HGNC:119","Mitchell syndrome","MONDO:0030073","https://search.clinicalgenome.org/kb/conditions/MONDO:0030073","Autosomal dominant inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014)","0 - No Evidence for Haploinsufficiency (11/20/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:119","Dosage Working Group","strong evidence (12/29/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2efeef00-0803-472b-8e25-080e4728c018-2022-12-29T170000.000Z","Peroxisomal Disorders","","","" -"ACOX2","HGNC:120","https://search.clinicalgenome.org/kb/genes/HGNC:120","congenital bile acid synthesis defect 6","MONDO:0015015","https://search.clinicalgenome.org/kb/conditions/MONDO:0015015","Autosomal recessive inheritance","","","","","moderate evidence (05/20/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5627eadb-12f9-4768-915c-3da73c425650-2022-05-20T171935.296Z","General Inborn Errors of Metabolism","","","" -"ACP5","HGNC:124","https://search.clinicalgenome.org/kb/genes/HGNC:124","Spondyloenchondrodysplasia with immune dysregulation","MONDO:0011939","https://search.clinicalgenome.org/kb/conditions/MONDO:0011939","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:124","Dosage Working Group","","","","","","" -"ACSF3","HGNC:27288","https://search.clinicalgenome.org/kb/genes/HGNC:27288","combined malonic and methylmalonic acidemia","MONDO:0013661","https://search.clinicalgenome.org/kb/conditions/MONDO:0013661","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:27288","Dosage Working Group","definitive evidence (10/09/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b215e20c-7781-49a0-b473-9219cb07e0b9-2020-10-09T160000.000Z","Aminoacidopathy","","","" -"ACSL4","HGNC:3571","https://search.clinicalgenome.org/kb/genes/HGNC:3571","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","1 - Little Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Haploinsufficiency (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571","Dosage Working Group","definitive evidence (01/10/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b4da722c-f7fc-4dc4-ad19-1d1b023d488f-2023-01-10T190000.000Z","Intellectual Disability and Autism","","","" -"ACSL4","HGNC:3571","https://search.clinicalgenome.org/kb/genes/HGNC:3571","intellectual disability, X-linked 63","MONDO:0010313","https://search.clinicalgenome.org/kb/conditions/MONDO:0010313","N/A","1 - Little Evidence for Haploinsufficiency (04/28/2021)","0 - No Evidence for Haploinsufficiency (04/28/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3571","Dosage Working Group","","","","","","" -"ACTA1","HGNC:129","https://search.clinicalgenome.org/kb/genes/HGNC:129","alpha-actinopathy","MONDO:0100084","https://search.clinicalgenome.org/kb/conditions/MONDO:0100084","Semidominant inheritance","","","","","definitive evidence (01/13/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9a8d04be-c08f-444b-b9cd-cd7de2e282c2-2020-01-13T170000.000Z","Congenital Myopathies","","","" -"ACTA2","HGNC:130","https://search.clinicalgenome.org/kb/genes/HGNC:130","familial thoracic aortic aneurysm and aortic dissection","MONDO:0019625","https://search.clinicalgenome.org/kb/conditions/MONDO:0019625","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (09/28/2022)","0 - No Evidence for Haploinsufficiency (09/28/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:130","Dosage Working Group","definitive evidence (09/27/2016)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8249","Heritable Thoracic Aortic Aneurysm and Dissection","Strong Actionability (03/01/2019) | Strong Actionability (03/01/2019)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC134 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC134","Adult Actionability Working Group | Pediatric Actionability Working Group" -"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","Baraitser-Winter cerebrofrontofacial syndrome","MONDO:0017579","https://search.clinicalgenome.org/kb/conditions/MONDO:0017579","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Haploinsufficiency (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fa13dfad-ab93-4521-874a-5ede8f608fe4-2021-10-26T165835.977Z","Brain Malformations","","","" -"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","ACTB-associated syndromic thrombocytopenia","MONDO:0100433","https://search.clinicalgenome.org/kb/conditions/MONDO:0100433","Autosomal dominant inheritance","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Haploinsufficiency (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","moderate evidence (05/25/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9cee7fd2-09f7-41dc-9742-542917d856b0-2022-05-25T160000.000Z","Hemostasis Thrombosis","","","" -"ACTB","HGNC:132","https://search.clinicalgenome.org/kb/genes/HGNC:132","syndromic intellectual disability","MONDO:0000508","https://search.clinicalgenome.org/kb/conditions/MONDO:0000508","N/A","0 - No Evidence for Haploinsufficiency (02/08/2022)","0 - No Evidence for Haploinsufficiency (02/08/2022)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:132","Dosage Working Group","","","","","","" -"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","arrhythmogenic right ventricular cardiomyopathy","MONDO:0016587","https://search.clinicalgenome.org/kb/conditions/MONDO:0016587","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/17/2015)","0 - No Evidence for Haploinsufficiency (11/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","no known disease relationship (03/15/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_748d4255-ef43-4b42-b9f1-1cdbc50de763-2019-03-15T160000.000Z","Arrhythmogenic Right Ventricular Cardiomyopathy","","","" -"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","dilated cardiomyopathy","MONDO:0005021","https://search.clinicalgenome.org/kb/conditions/MONDO:0005021","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/17/2015)","0 - No Evidence for Haploinsufficiency (11/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","moderate evidence (08/12/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3e9b4048-3003-4180-b891-fcf10d25a814-2020-08-12T160000.000Z","Dilated Cardiomyopathy","","","" -"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","hypertrophic cardiomyopathy","MONDO:0005045","https://search.clinicalgenome.org/kb/conditions/MONDO:0005045","Autosomal dominant inheritance","1 - Little Evidence for Haploinsufficiency (11/17/2015)","0 - No Evidence for Haploinsufficiency (11/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","definitive evidence (06/23/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f62793b-0015-46eb-bb51-bddbae25ba0d-2021-06-23T201616.296Z","Hypertrophic Cardiomyopathy","Assertion Pending (08/14/2017)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056","Adult Actionability Working Group" -"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","familial hypertrophic cardiomyopathy","MONDO:0024573","https://search.clinicalgenome.org/kb/conditions/MONDO:0024573","N/A","1 - Little Evidence for Haploinsufficiency (11/17/2015)","0 - No Evidence for Haploinsufficiency (11/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056","Adult Actionability Working Group" -"ACTC1","HGNC:143","https://search.clinicalgenome.org/kb/genes/HGNC:143","hypertrophic cardiomyopathy 11","MONDO:0012799","https://search.clinicalgenome.org/kb/conditions/MONDO:0012799","N/A","1 - Little Evidence for Haploinsufficiency (11/17/2015)","0 - No Evidence for Haploinsufficiency (11/17/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:143","Dosage Working Group","","","","Assertion Pending (08/14/2017)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC056","Adult Actionability Working Group" -"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","","CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1","https://search.clinicalgenome.org/kb/conditions/CGGV:FREETEXT_5710bf1a-49db-4189-b02a-9c51a46e50f1","N/A","","","","","","","","","","" -"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","Baraitser-winter syndrome 2","MONDO:0013812","https://search.clinicalgenome.org/kb/conditions/MONDO:0013812","Autosomal dominant inheritance","","","","","definitive evidence (01/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9969a221-1ce9-44c6-8ab7-2ad5f7ccd5ab-2019-01-07T170000.000Z","Hearing Loss","","","" -"ACTG1","HGNC:144","https://search.clinicalgenome.org/kb/genes/HGNC:144","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal dominant inheritance","","","","","definitive evidence (01/07/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_db9f5d19-5ebc-4a1a-a4c3-79ff27f69a0e-2019-01-07T170000.000Z","Hearing Loss","","","" -"ACTL6B","HGNC:160","https://search.clinicalgenome.org/kb/genes/HGNC:160","developmental and epileptic encephalopathy","MONDO:0100062","https://search.clinicalgenome.org/kb/conditions/MONDO:0100062","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/23/2022)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:160","Dosage Working Group","","","","","","" -"ACTN1","HGNC:163","https://search.clinicalgenome.org/kb/genes/HGNC:163","platelet-type bleeding disorder 15","MONDO:0014078","https://search.clinicalgenome.org/kb/conditions/MONDO:0014078","Autosomal dominant inheritance","","","","","definitive evidence (11/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_215f3113-cfb6-44cc-a68b-1eb6539c9fa0-2020-11-25T170000.000Z","Hemostasis Thrombosis","","","" -"ACTN2","HGNC:164","https://search.clinicalgenome.org/kb/genes/HGNC:164","intrinsic cardiomyopathy","MONDO:0000591","https://search.clinicalgenome.org/kb/conditions/MONDO:0000591","Autosomal dominant inheritance","","","","","moderate evidence (08/06/2018)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6710e329-d391-4355-85a5-02d03f8791a3-2018-08-06T131255.615Z","Hypertrophic Cardiomyopathy","","","" -"ACVRL1","HGNC:175","https://search.clinicalgenome.org/kb/genes/HGNC:175","telangiectasia, hereditary hemorrhagic, type 2","MONDO:0010880","https://search.clinicalgenome.org/kb/conditions/MONDO:0010880","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/10/2016)","0 - No Evidence for Haploinsufficiency (11/10/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175","Dosage Working Group","definitive evidence (12/05/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbbb72c5-84a0-4096-8d49-6df506cfee0e-2022-12-05T170000.000Z","Hemostasis Thrombosis","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107","Adult Actionability Working Group | Pediatric Actionability Working Group" -"ACVRL1","HGNC:175","https://search.clinicalgenome.org/kb/genes/HGNC:175","hereditary hemorrhagic telangiectasia","MONDO:0019180","https://search.clinicalgenome.org/kb/conditions/MONDO:0019180","N/A","3 - Sufficient Evidence for Haploinsufficiency (11/10/2016)","0 - No Evidence for Haploinsufficiency (11/10/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:175","Dosage Working Group","","","","Moderate Actionability (08/26/2022) | Strong Actionability (08/26/2022)","https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Adult/ui/stg2SummaryRpt?doc=AC107 | https://search.clinicalgenome.org/kb/gene-validity/https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC107","Adult Actionability Working Group | Pediatric Actionability Working Group" -"ACY1","HGNC:177","https://search.clinicalgenome.org/kb/genes/HGNC:177","aminoacylase 1 deficiency","MONDO:0012368","https://search.clinicalgenome.org/kb/conditions/MONDO:0012368","Autosomal recessive inheritance","","","","","definitive evidence (09/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_67196825-d32f-4070-9c15-debaa2287b73-2020-09-25T160000.000Z","Aminoacidopathy","","","" -"ADA","HGNC:186","https://search.clinicalgenome.org/kb/genes/HGNC:186","severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency","MONDO:0007064","https://search.clinicalgenome.org/kb/conditions/MONDO:0007064","Autosomal recessive inheritance","","","","","definitive evidence (11/19/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_664ba77c-3db6-47da-941e-316ac819432a-2020-11-19T170000.000Z","SCID-CID","","","" -"ADA2","HGNC:1839","https://search.clinicalgenome.org/kb/genes/HGNC:1839","deficiency of adenosine deaminase 2","MONDO:0100317","https://search.clinicalgenome.org/kb/conditions/MONDO:0100317","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1839","Dosage Working Group","definitive evidence (05/30/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_e05f1338-6a58-4991-af3b-6433bd165a9f-2023-05-30T170000.000Z","Antibody Deficiencies GCEP","","","" -"ADA2","HGNC:1839","https://search.clinicalgenome.org/kb/genes/HGNC:1839","vasculitis due to ADA2 deficiency","MONDO:0014306","https://search.clinicalgenome.org/kb/conditions/MONDO:0014306","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1839","Dosage Working Group","","","","","","" -"ADAM9","HGNC:216","https://search.clinicalgenome.org/kb/genes/HGNC:216","ADAM9-related retinopathy","MONDO:0800398","https://search.clinicalgenome.org/kb/conditions/MONDO:0800398","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Haploinsufficiency (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216","Dosage Working Group","definitive evidence (09/01/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c648ec73-186d-4680-93ea-29f5fdf91812-2022-09-01T160000.000Z","Retina","","","" -"ADAM9","HGNC:216","https://search.clinicalgenome.org/kb/genes/HGNC:216","cone-rod dystrophy 9","MONDO:0013002","https://search.clinicalgenome.org/kb/conditions/MONDO:0013002","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (12/11/2014)","0 - No Evidence for Haploinsufficiency (12/11/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:216","Dosage Working Group","","","","","","" -"ADAMTS13","HGNC:1366","https://search.clinicalgenome.org/kb/genes/HGNC:1366","congenital thrombotic thrombocytopenic purpura","MONDO:0010122","https://search.clinicalgenome.org/kb/conditions/MONDO:0010122","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:1366","Dosage Working Group","definitive evidence (03/25/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6442c328-21be-482d-9ea9-ce694c1a5dd9-2020-03-25T160000.000Z","Hemostasis Thrombosis","","","" -"ADAMTS17","HGNC:17109","https://search.clinicalgenome.org/kb/genes/HGNC:17109","Weill-Marchesani 4 syndrome, recessive","MONDO:0013176","https://search.clinicalgenome.org/kb/conditions/MONDO:0013176","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17109","Dosage Working Group","","","","","","" -"ADAMTS18","HGNC:17110","https://search.clinicalgenome.org/kb/genes/HGNC:17110","microcornea-myopic chorioretinal atrophy","MONDO:0014195","https://search.clinicalgenome.org/kb/conditions/MONDO:0014195","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17110","Dosage Working Group","definitive evidence (03/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_95caeabe-f92c-4884-87b4-ed97f15769f3-2022-03-02T212447.170Z","Retina","","","" -"ADAMTS2","HGNC:218","https://search.clinicalgenome.org/kb/genes/HGNC:218","Ehlers-Danlos syndrome, dermatosparaxis type","MONDO:0009161","https://search.clinicalgenome.org/kb/conditions/MONDO:0009161","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:218","Dosage Working Group","","","","","","" -"ADAMTS9","HGNC:13202","https://search.clinicalgenome.org/kb/genes/HGNC:13202","ciliopathy","MONDO:0005308","https://search.clinicalgenome.org/kb/conditions/MONDO:0005308","Autosomal recessive inheritance","","","","","limited evidence (05/11/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a31b47e0-c9a5-4bdd-99d7-2d7f0d2a3bc8-2022-05-11T160000.000Z","Kidney Cystic and Ciliopathy Disorders","","","" -"ADAMTSL2","HGNC:14631","https://search.clinicalgenome.org/kb/genes/HGNC:14631","geleophysic dysplasia 1","MONDO:0009269","https://search.clinicalgenome.org/kb/conditions/MONDO:0009269","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:14631","Dosage Working Group","","","","","","" -"ADAR","HGNC:225","https://search.clinicalgenome.org/kb/genes/HGNC:225","Leigh syndrome","MONDO:0009723","https://search.clinicalgenome.org/kb/conditions/MONDO:0009723","Autosomal recessive inheritance","","","","","limited evidence (08/27/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_03f538b5-43af-4699-9ddb-264077de21c9-2020-08-27T164642.352Z","Mitochondrial Diseases","","","" -"ADCY1","HGNC:232","https://search.clinicalgenome.org/kb/genes/HGNC:232","hearing loss, autosomal recessive","MONDO:0019588","https://search.clinicalgenome.org/kb/conditions/MONDO:0019588","Autosomal recessive inheritance","","","","","limited evidence (05/10/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_8152","Hearing Loss","","","" -"ADD3","HGNC:245","https://search.clinicalgenome.org/kb/genes/HGNC:245","complex neurodevelopmental disorder with motor features","MONDO:0100516","https://search.clinicalgenome.org/kb/conditions/MONDO:0100516","Autosomal recessive inheritance","","","","","moderate evidence (08/15/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8a858435-3e50-406f-8ec3-9f4e40b1c392-2022-08-15T180000.000Z","Cerebral Palsy","","","" -"ADGRG1","HGNC:4512","https://search.clinicalgenome.org/kb/genes/HGNC:4512","bilateral frontoparietal polymicrogyria","MONDO:0011738","https://search.clinicalgenome.org/kb/conditions/MONDO:0011738","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (05/17/2012)","0 - No Evidence for Haploinsufficiency (05/17/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:4512","Dosage Working Group","","","","","","" -"ADGRV1","HGNC:17416","https://search.clinicalgenome.org/kb/genes/HGNC:17416","nonsyndromic genetic hearing loss","MONDO:0019497","https://search.clinicalgenome.org/kb/conditions/MONDO:0019497","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Haploinsufficiency (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416","Dosage Working Group","disputing (03/19/2019)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f3dc96a-8fd3-4d30-98fd-1b1cf264e818-2019-03-19T160000.000Z","Hearing Loss","","","" -"ADGRV1","HGNC:17416","https://search.clinicalgenome.org/kb/genes/HGNC:17416","Usher syndrome type 2","MONDO:0016484","https://search.clinicalgenome.org/kb/conditions/MONDO:0016484","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/23/2021)","0 - No Evidence for Haploinsufficiency (08/23/2021)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17416","Dosage Working Group","definitive evidence (02/15/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_992d2cd7-5305-4278-9601-3e59ac1a8770-2017-02-15T170000.000Z","Hearing Loss","","","" -"ADK","HGNC:257","https://search.clinicalgenome.org/kb/genes/HGNC:257","adenosine kinase deficiency","MONDO:0100255","https://search.clinicalgenome.org/kb/conditions/MONDO:0100255","Autosomal recessive inheritance","","","","","definitive evidence (04/08/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c2319ca2-652d-411e-ab6d-5b7fb7e185ea-2021-04-08T160000.000Z","Aminoacidopathy","","","" -"ADNP","HGNC:15766","https://search.clinicalgenome.org/kb/genes/HGNC:15766","ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder","MONDO:0014379","https://search.clinicalgenome.org/kb/conditions/MONDO:0014379","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (11/22/2017)","0 - No Evidence for Haploinsufficiency (11/22/2017)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:15766","Dosage Working Group","definitive evidence (01/15/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_837200e1-ed55-415b-bd9e-6649e4abab1d-2020-01-15T170000.000Z","Intellectual Disability and Autism","","","" -"ADSL","HGNC:291","https://search.clinicalgenome.org/kb/genes/HGNC:291","adenylosuccinate lyase deficiency","MONDO:0007068","https://search.clinicalgenome.org/kb/conditions/MONDO:0007068","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (11/06/2015)","0 - No Evidence for Haploinsufficiency (11/06/2015)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:291","Dosage Working Group","definitive evidence (09/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d282f565-84e4-4a47-9acc-77ee31bbe9f6-2020-09-07T160000.000Z","Intellectual Disability and Autism","","","" -"AFF2","HGNC:3776","https://search.clinicalgenome.org/kb/genes/HGNC:3776","non-syndromic X-linked intellectual disability","MONDO:0019181","https://search.clinicalgenome.org/kb/conditions/MONDO:0019181","X-linked inheritance","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Haploinsufficiency (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776","Dosage Working Group","definitive evidence (10/20/2017)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ab4216e3-61b7-4542-ad3a-8788a7ef8b63-2017-10-20T040000.000Z","Intellectual Disability and Autism","","","" -"AFF2","HGNC:3776","https://search.clinicalgenome.org/kb/genes/HGNC:3776","FRAXE intellectual disability","MONDO:0010659","https://search.clinicalgenome.org/kb/conditions/MONDO:0010659","N/A","3 - Sufficient Evidence for Haploinsufficiency (12/08/2020)","0 - No Evidence for Haploinsufficiency (12/08/2020)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:3776","Dosage Working Group","","","","","","" -"AGA","HGNC:318","https://search.clinicalgenome.org/kb/genes/HGNC:318","aspartylglucosaminuria","MONDO:0008830","https://search.clinicalgenome.org/kb/conditions/MONDO:0008830","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:318","Dosage Working Group","definitive evidence (09/02/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1f315b4a-1a3b-4deb-90fd-2b73f732a4ba-2022-09-02T160000.000Z","Lysosomal Diseases","","","" -"AGK","HGNC:21869","https://search.clinicalgenome.org/kb/genes/HGNC:21869","Sengers syndrome","MONDO:0008922","https://search.clinicalgenome.org/kb/conditions/MONDO:0008922","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/20/2014)","0 - No Evidence for Haploinsufficiency (11/20/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21869","Dosage Working Group","","","","","","" -"AGL","HGNC:321","https://search.clinicalgenome.org/kb/genes/HGNC:321","glycogen storage disease III","MONDO:0009291","https://search.clinicalgenome.org/kb/conditions/MONDO:0009291","Autosomal recessive inheritance","","","","","definitive evidence (02/24/2023)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a7b762bc-a12f-4194-91b9-764784248cc7-2023-02-24T170000.000Z","General Inborn Errors of Metabolism","","","" -"AGPAT2","HGNC:325","https://search.clinicalgenome.org/kb/genes/HGNC:325","congenital generalized lipodystrophy type 1","MONDO:0012071","https://search.clinicalgenome.org/kb/conditions/MONDO:0012071","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:325","Dosage Working Group","","","","","","" -"AGPS","HGNC:327","https://search.clinicalgenome.org/kb/genes/HGNC:327","alkylglycerone-phosphate synthase deficiency","MONDO:0100274","https://search.clinicalgenome.org/kb/conditions/MONDO:0100274","Autosomal recessive inheritance","","","","","definitive evidence (04/22/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aba640e2-c95d-414b-8c72-d22769e4366a-2022-04-22T160000.000Z","Peroxisomal Disorders","","","" -"AGRN","HGNC:329","https://search.clinicalgenome.org/kb/genes/HGNC:329","congenital myasthenic syndrome 8","MONDO:0014052","https://search.clinicalgenome.org/kb/conditions/MONDO:0014052","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","0 - No Evidence for Haploinsufficiency (08/22/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:329","Dosage Working Group","","","","","","" -"AGT","HGNC:333","https://search.clinicalgenome.org/kb/genes/HGNC:333","renal tubular dysgenesis of genetic origin","MONDO:0009970","https://search.clinicalgenome.org/kb/conditions/MONDO:0009970","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (11/13/2014)","0 - No Evidence for Haploinsufficiency (11/13/2014)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:333","Dosage Working Group","","","","","","" -"AGTR2","HGNC:338","https://search.clinicalgenome.org/kb/genes/HGNC:338","X-linked complex neurodevelopmental disorder","MONDO:0100148","https://search.clinicalgenome.org/kb/conditions/MONDO:0100148","X-linked inheritance","0 - No Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Haploinsufficiency (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338","Dosage Working Group","disputing (06/02/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d7cfa2a0-e6a7-49b8-a773-b32a1dfbcd57-2020-06-02T160000.000Z","Intellectual Disability and Autism","","","" -"AGTR2","HGNC:338","https://search.clinicalgenome.org/kb/genes/HGNC:338","intellectual disability, X-linked 88","MONDO:0010454","https://search.clinicalgenome.org/kb/conditions/MONDO:0010454","N/A","0 - No Evidence for Haploinsufficiency (05/10/2012)","0 - No Evidence for Haploinsufficiency (05/10/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:338","Dosage Working Group","","","","","","" -"AGXT","HGNC:341","https://search.clinicalgenome.org/kb/genes/HGNC:341","alanine glyoxylate aminotransferase deficiency","MONDO:0100278","https://search.clinicalgenome.org/kb/conditions/MONDO:0100278","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341","Dosage Working Group","definitive evidence (02/07/2020)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_8460f17d-4d94-4a0c-ac46-41c86ce32e83-2020-02-07T170000.000Z","Peroxisomal Disorders","","","" -"AGXT","HGNC:341","https://search.clinicalgenome.org/kb/genes/HGNC:341","primary hyperoxaluria type 1","MONDO:0009823","https://search.clinicalgenome.org/kb/conditions/MONDO:0009823","N/A","30 - Gene Associated with Autosomal Recessive Phenotype (08/22/2016)","","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:341","Dosage Working Group","","","","","","" -"AHCY","HGNC:343","https://search.clinicalgenome.org/kb/genes/HGNC:343","hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","MONDO:0013404","https://search.clinicalgenome.org/kb/conditions/MONDO:0013404","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (06/08/2016)","0 - No Evidence for Haploinsufficiency (06/08/2016)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:343","Dosage Working Group","moderate evidence (12/12/2022)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d9b3a56b-b188-44d1-9983-a059895c0ba1-2022-12-12T170000.000Z","Aminoacidopathy","","","" -"AHDC1","HGNC:25230","https://search.clinicalgenome.org/kb/genes/HGNC:25230","AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome","MONDO:0014358","https://search.clinicalgenome.org/kb/conditions/MONDO:0014358","Autosomal dominant inheritance","3 - Sufficient Evidence for Haploinsufficiency (02/28/2018)","0 - No Evidence for Haploinsufficiency (02/28/2018)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:25230","Dosage Working Group","definitive evidence (11/16/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_59a6c010-95ac-4813-9cf4-5ff60fa5c7e9-2021-11-16T170000.000Z","Intellectual Disability and Autism","","","" -"AHI1","HGNC:21575","https://search.clinicalgenome.org/kb/genes/HGNC:21575","Joubert syndrome 3","MONDO:0012078","https://search.clinicalgenome.org/kb/conditions/MONDO:0012078","Autosomal recessive inheritance","30 - Gene Associated with Autosomal Recessive Phenotype (09/06/2012)","0 - No Evidence for Haploinsufficiency (09/06/2012)","https://search.clinicalgenome.org/kb/gene-dosage/HGNC:21575","Dosage Working Group","definitive evidence (10/26/2021)","https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d0d8d22f-cea6-4f4f-bc71-e85303dccac1-2021-10-26T143345.589Z","Brain Malformations","","",""