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 CACNA1C gene CACNA1C Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder 18250309;15454078;25633834;24728418 False 3 86;14;0 3.12 False ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 Expert Review Green;London South GLH;Oxford Medical Genetics Laboratory;South West GLH Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 False 3 33;67;0 3.12 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green;Oxford Medical Genetics Laboratory;South West GLH Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 40;40;20 3.12 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;Oxford Medical Genetics Laboratory;South West GLH Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782 False 3 20;60;20 3.12 False ENSG00000160014 ENSG00000160014 HGNC:1449 KCNE1 gene KCNE1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Long 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 19716085;31983240;11692163 False 3 75;25;0 3.12 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1 (609620);Long QT syndrome-2;Long QT syndrome-2 (613688) 19716085;31358886;26888179;7889573;9927399;36269083 False 3 86;14;0 3.12 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 3, OMIM:609622;Short QT syndrome type 3, MONDO:0012314;Atrial fibrillation, familial, 9, OMIM:613980;Atrial fibrillation, familial, 9, MONDO:0013513;Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 19716085;26888179;11371347;12163457 False 3 86;14;0 3.12 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Long QT syndrome Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome (220400);Atrial fibrillation, familial, 3 (607554);Long QT syndrome-1 (192500);Long QT syndrome-1;Short QT syndrome 2 (609621) 19716085;26888179;8528244;9927399 False 3 86;14;0 3.12 False ENSG00000053918 ENSG00000053918 HGNC:6294 SCN5A gene SCN5A Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);Heart block, nonprogressive (113900);Heart block, progressive, type IA (113900);{Sudden infant death syndrome, susceptibility to} (272120);Sick sinus syndrome 1 (608567);Long QT syndrome-3;Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Atrial fibrillation, familial, 10 (614022) 19716085;29798782;26888179;7889574;29728395 False 3 86;14;0 3.12 False ENSG00000183873 ENSG00000183873 HGNC:10593 KCNE2 gene KCNE2 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 6 (613693);Atrial fibrillation, familial, 4 (611493) 19716085;26888179;11468227 False 2 62;38;0 3.12 False ENSG00000159197 ENSG00000159197 HGNC:6242 TECRL gene TECRL Expert Review Amber;NHS GMS Long QT syndrome Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 False 2 0;100;0 3.12 False ENSG00000205678 ENSG00000205678 HGNC:27365 TRDN gene TRDN Expert list;Expert Review Amber Long QT syndrome Cardiology BIALLELIC, autosomal or pseudoautosomal Long QT syndrome 31983240;25922419 False 2 100;0;0 3.12 False ENSG00000186439 ENSG00000186439 HGNC:12261 AKAP9 gene AKAP9 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-11 (611820);Long QT syndrome-11 25087618 False 1 0;0;100 3.12 False ENSG00000127914 ENSG00000127914 HGNC:379 ALG10 gene ALG10 Radboud University Medical Center, Nijmegen;South West GLH Long QT syndrome Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;25;75 3.12 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10B gene ALG10B Other Long 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 3.12 False ENSG00000175548 ENSG00000175548 HGNC:31088 ANK2 gene ANK2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-4 ;Cardiac arrhythmia, ankyrin-B-related (600919);Long QT syndrome 4 (600919) 12571597 False 1 43;57;0 3.12 False ENSG00000145362 ENSG00000145362 HGNC:493 CAV3 gene CAV3 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-9 17060380 False 1 17;17;67 3.12 False ENSG00000182533 ENSG00000182533 HGNC:1529 KCNE3 gene KCNE3 Literature;South West GLH Long QT syndrome Cardiology Unknown Long QT syndrome; Brugada syndrome 19306396;doi:10. 1007/ s12265-016-9673-5;19306396 False 1 0;0;100 3.12 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNJ5 gene KCNJ5 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485);Long QT syndrome 13 19716085 False 1 29;29;43 3.12 True ENSG00000120457 ENSG00000120457 HGNC:6266 NOS1AP gene NOS1AP Expert list;South West GLH Long QT syndrome Cardiology Unknown False 1 0;33;67 3.12 False ENSG00000198929 ENSG00000198929 HGNC:16859 RYR2 gene RYR2 Literature;London South GLH;South West GLH Long QT syndrome Cardiology BIALLELIC, autosomal or pseudoautosomal Long QT syndrome; Catecholaminergic polymorphic ventricular tachycardia; Arrhythmogenic right ventricular cardiomyopathy; 21126784; doi:10. 1007/ s12265-016-9673-5 False 1 0;67;33 3.12 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN4B gene SCN4B Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-10 ;Long QT syndrome-10 (611819) 17592081 False 1 0;14;86 3.12 False Other - please provide details in the comments ENSG00000177098 ENSG00000177098 HGNC:10592 SNTA1 gene SNTA1 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH;UKGTN Long QT syndrome Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 19684871 False 1 17;33;50 3.12 True ENSG00000101400 ENSG00000101400 HGNC:11167