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 Brugada syndrome (Version 1.7);Expert Review Red;Literature;North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ventricular tachycardia;Atrial fibrillation, familial, 12 (614050);Cardiomyopathy, dilated, 1O (608569);short qt;atrial fibrillation 30420954;19862833;16301704 False 1 0;0;100 3.16 False Other ENSG00000069431 ENSG00000069431 HGNC:60 AKAP9 gene AKAP9 Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-11 (611820);?Long QT syndrome-11 611820 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000127914 ENSG00000127914 HGNC:379 ALG10B gene ALG10B Other Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 3.16 False ENSG00000175548 ENSG00000175548 HGNC:31088 ANK2 gene ANK2 Brugada syndrome (Version 1.7);Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 4 (600919);Long QT syndrome 4 600919;Cardiac arrhythmia, ankyrin-B-related (600919);Cardiac arrhythmia, ankyrin-B-related 600919 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000145362 ENSG00000145362 HGNC:493 CALM1 gene CALM1 Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14 (616247);Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Long QT syndrome (Version 1.5) Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 3.16 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Long QT syndrome (Version 1.5) Short QT syndrome Cardiology False 1 0;0;100 3.16 False ENSG00000160014 ENSG00000160014 HGNC:1449 CAV3 gene CAV3 Brugada syndrome (Version 1.7);Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 3.16 False ENSG00000182533 ENSG00000182533 HGNC:1529 DLG1 gene DLG1 Brugada syndrome (Version 1.7) Short QT syndrome Cardiology False 1 0;0;100 3.16 False ENSG00000075711 ENSG00000075711 HGNC:2900 GPD1L gene GPD1L Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 (611777) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000152642 ENSG00000152642 HGNC:28956 HCN4 gene HCN4 Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sick sinus syndrome 2 (163800);Brugada syndrome 8 (613123) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000138622 ENSG00000138622 HGNC:16882 KCND3 gene KCND3 Brugada syndrome (Version 1.7) Short QT syndrome Cardiology False 1 0;0;100 3.16 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 16301704;26168993 False 1 50;0;50 3.16 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493) 16301704 False 1 50;0;50 3.16 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Brugada syndrome 6 (613119) 16301704 False 1 0;50;50 3.16 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Brugada syndrome (Version 1.7) Short QT syndrome Cardiology atrial fibrillation;Brugada syndrome 29350269 False 1 0;0;100 3.16 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNJ5 gene KCNJ5 Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Brugada syndrome (Version 1.7);Expert Review Red;Literature Short QT syndrome Cardiology Unknown short qt;ventricular tachycardia;atrial fibrillation 21383000;15569843;27283775 False 1 0;0;100 3.16 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 LRP5 gene LRP5 Expert Review Red;Literature Short QT syndrome Cardiology Unknown short qt 30309679 False 1 0;0;100 3.16 False Other ENSG00000162337 ENSG00000162337 HGNC:6697 NOS1AP gene NOS1AP Long QT syndrome (Version 1.5) Short QT syndrome Cardiology False 1 0;0;100 3.16 False ENSG00000198929 ENSG00000198929 HGNC:16859 PKP2 gene PKP2 Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 9 (609040) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000057294 ENSG00000057294 HGNC:9024 RANGRF gene RANGRF Brugada syndrome (Version 1.7) Short QT syndrome Cardiology False 1 0;0;100 3.16 False ENSG00000108961 ENSG00000108961 HGNC:17679 RYR2 gene RYR2 Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A Brugada syndrome (Version 1.7);Expert Review Red;Literature;North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown J wave syndrome;short QT;Episodic pain syndrome, familial, 2 (615551);sudden death 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction defect, nonspecific, OMIM:612838;Brugada syndrome 5, OMIM:612838;Atrial fibrillation, familial, 13, OMIM:615377 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Brugada syndrome (Version 1.7) Short QT syndrome Cardiology False 1 0;0;0 3.16 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000177098 ENSG00000177098 HGNC:10592 SLC22A5 gene SLC22A5 Expert Review Red;Literature;London South GLH;South West GLH;West Midlands, Oxford and Wessex GLH Short QT syndrome Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 7254270;7131143;26190315;29198778;10545605;11261427 False 1 29;29;43 3.16 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLMAP gene SLMAP Brugada syndrome (Version 1.7) Short QT syndrome Cardiology False 1 0;0;0 3.16 False ENSG00000163681 ENSG00000163681 HGNC:16643 SNTA1 gene SNTA1 Emory Genetics Laboratory;Long QT syndrome (Version 1.5);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 (612955) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000101400 ENSG00000101400 HGNC:11167 TRPM4 gene TRPM4 Brugada syndrome (Version 1.7);North West GLH Short QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB (604559) 30420954;19862833;16301704 False 1 0;0;100 3.16 False ENSG00000130529 ENSG00000130529 HGNC:17993