Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AKAP9 gene AKAP9 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown long QT syndrome 31983240 False 1 0;0;100 3.25 True ENSG00000127914 ENSG00000127914 HGNC:379 ANK2 gene ANK2 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 4, MIM# 600919" 31983240 False 1 0;0;100 3.25 True ENSG00000145362 ENSG00000145362 HGNC:493 BVES gene BVES Expert Review Red;Literature Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 26642364;31119192 False 1 0;100;0 3.25 True ENSG00000112276 ENSG00000112276 HGNC:1152 CACNA1C gene CACNA1C Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown 29959160 False 1 0;0;100 3.25 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome PMID: 34557911 False 1 0;0;100 3.25 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA2D1 gene CACNA2D1 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown 29959160 False 1 0;0;100 3.25 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D1 gene CACNA2D1 Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome PMID: 34557911 False 1 0;0;100 3.25 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown 29959160 False 1 0;0;100 3.25 True ENSG00000165995 ENSG00000165995 HGNC:1402 CACNB2 gene CACNB2 Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1 PMID: 34557911 False 1 0;0;100 3.25 True ENSG00000165995 ENSG00000165995 HGNC:1402 CORIN gene CORIN Expert Review Red;Expert list Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) 37913506;15637153 False 1 0;0;100 3.25 True ENSG00000145244 ENSG00000145244 HGNC:19012 GNB2 gene GNB2 Expert Review Red;Expert list Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Sick sinus syndrome 4, MIM# 619464" 28219978 False 1 0;0;100 3.25 True ENSG00000172354 ENSG00000172354 HGNC:4398 GPD1L gene GPD1L Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 2, MIM# 611777 17967977;19666841;29959160 False 1 0;50;50 3.25 True ENSG00000152642 ENSG00000152642 HGNC:28956 KCND3 gene KCND3 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 29959160 False 1 0;0;100 3.25 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE3 gene KCNE3 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown 29959160 False 1 0;0;100 3.25 True ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Atrial fibrillation 18313602;16054468;30289750 False 1 0;0;100 3.25 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNJ2 gene KCNJ2 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 31020160, 22589293, 26322597 False 1 0;50;50 3.25 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 13, MIM# 613485" 31983240 False 1 0;0;100 3.25 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 29959160 False 1 0;0;100 3.25 True ENSG00000121361 ENSG00000121361 HGNC:6269 RYR2 gene RYR2 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 11159936;25041964;29543670 False 1 0;0;100 3.25 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 29959160 False 1 0;0;100 3.25 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown 29959160 False 1 0;0;100 3.25 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN3B gene SCN3B Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 7 MIM#613120 False 1 0;0;100 3.25 True ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 10, MIM# 611819" 31983240 False 1 0;0;100 3.25 True ENSG00000177098 ENSG00000177098 HGNC:10592 SCN5A gene SCN5A Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome PMID: 34557911 False 1 0;0;100 3.25 True ENSG00000183873 ENSG00000183873 HGNC:10593 SHOX2 gene SHOX2 Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sinus Node Dysfunction;Atrial Fibrillation 30443179 False 1 0;0;100 3.25 True ENSG00000168779 ENSG00000168779 HGNC:10854 SLC22A5 gene SLC22A5 Expert Review Red;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Short QT syndrome PMID: 34557911 False 1 0;0;100 3.25 True ENSG00000197375 ENSG00000197375 HGNC:10969 SNTA1 gene SNTA1 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 12, MIM# 612955" 31983240 False 1 0;0;100 3.25 True ENSG00000101400 ENSG00000101400 HGNC:11167 TGFB3 gene TGFB3 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 15639475 False 1 0;0;100 3.25 True ENSG00000119699 ENSG00000119699 HGNC:11769