---
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: 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""
- 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: ""

