"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","","",""
