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 ABCC9 gene ABCC9 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000069431 ENSG00000069431 HGNC:60 AKAP9 gene AKAP9 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown long QT syndrome 31983240 False 1 0;0;100 5.1 True ENSG00000127914 ENSG00000127914 HGNC:379 ALG10B gene ALG10B ClinGen;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome MONDO:0002442 37071726 False 1 0;0;100 5.1 False ENSG00000175548 ENSG00000175548 HGNC:31088 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 5.1 True ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 False 1 0;0;100 5.1 True ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 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 5.1 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 5.1 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 5.1 True ENSG00000151067 ENSG00000151067 HGNC:1390 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 5.1 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNA2D1 gene CACNA2D1 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 29959160 False 1 0;0;100 5.1 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 5.1 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 5.1 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 5.1 True ENSG00000145244 ENSG00000145244 HGNC:19012 FGF12 gene FGF12 ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome MONDO:0015263 False 1 0;0;100 5.1 False ENSG00000114279 ENSG00000114279 HGNC:3668 GNB2 gene GNB2 Literature;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 5.1 False 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 5.1 True ENSG00000152642 ENSG00000152642 HGNC:28956 HCN4 gene HCN4 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000138622 ENSG00000138622 HGNC:16882 KCND3 gene KCND3 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 29959160 False 1 0;0;100 5.1 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE2 gene KCNE2 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 31983240;28794082 False 1 0;50;50 5.1 True ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome, MONDO:0015263 29959160 False 1 0;0;100 5.1 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 5.1 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNE5 gene KCNE5 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000176076 ENSG00000176076 HGNC:6241 KCNH2 gene KCNH2 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000055118 ENSG00000055118 HGNC:6251 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 5.1 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 5.1 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 29959160 False 1 0;0;100 5.1 True ENSG00000121361 ENSG00000121361 HGNC:6269 MRC2 gene MRC2 Expert Review Red;Literature Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome - MONDO:0008685, MRC2-related PMID - 38953222 False 1 0;0;100 5.1 True ENSG00000011028 ENSG00000011028 HGNC:16875 NNT gene NNT Expert Review Red;Literature Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted left ventricular noncompaction MONDO:0018901 26025024 False 1 0;0;100 5.1 True ENSG00000112992 ENSG00000112992 HGNC:7863 NUP155 gene NUP155 Expert Review Red;Literature;Literature Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal familial atrial fibrillation MONDO:0018054 19070573 False 1 0;0;100 5.1 True ENSG00000113569 ENSG00000113569 HGNC:8063 PKP2 gene PKP2 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 False 1 0;0;100 5.1 True ENSG00000057294 ENSG00000057294 HGNC:9024 RANGRF gene RANGRF Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000108961 ENSG00000108961 HGNC:17679 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 5.1 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 5.1 True ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Red;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders Unknown Brugada syndrome 1, MONDO:0011001 29959160 False 1 0;0;100 5.1 True ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000149575 ENSG00000149575 HGNC:10589 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 5.1 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 5.1 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 5.1 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 5.1 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 5.1 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLMAP gene SLMAP Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000163681 ENSG00000163681 HGNC:16643 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 5.1 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 5.1 True ENSG00000119699 ENSG00000119699 HGNC:11769 TMEM168 gene TMEM168 ClinGen;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome MONDO:0015263 https://search.clinicalgenome.org/CCID:009114 False 1 0;0;100 5.1 False ENSG00000146802 ENSG00000146802 HGNC:25826 TRPM4 gene TRPM4 Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 5.1 True ENSG00000130529 ENSG00000130529 HGNC:17993 TTN gene TTN Expert Review Red;ClinGen Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 False 1 0;0;100 5.1 True ENSG00000155657 ENSG00000155657 HGNC:12403