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 ACTC1 gene ACTC1 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Expert list;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 11 ;Atrial septal defect 5 (612794);Left ventricular noncompaction 4 (613424);Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R (613424);Hypertrophic Cardiomyopathy 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTC1 gene ACTC1 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 11 (612098);Left ventricular noncompaction 4 (613424);Cardiomyopathy, dilated, 1R (613424);Cardiomyopathy, dilated, 1R;Atrial septal defect 5 (612794) 26061005;27532257 False 3 50;17;33 22.57 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1AA, with or without LVNC 612158;Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 25224718;25173926;20022194;27287556 False 3 14;86;0 22.57 False ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 Expert Review Green;UKGTN;South West GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158);Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant 25224718;27532257;26312134 False 3 43;43;14 22.57 False ENSG00000077522 ENSG00000077522 HGNC:164 ALPK3 gene ALPK3 NHS GMS;Expert Review Green;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, OMIM:618052 26846950;27106955;32480058;28630369;30046096;31074094;21441111;34263907;35583889 False 3 100;0;0 22.57 False ENSG00000136383 ENSG00000136383 HGNC:17574 BAG3 gene BAG3 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH, 613881;Myopathy, myofibrillar, 6, 612954 30442290;28737513;28211974 False 3 100;0;0 22.57 False ENSG00000151929 ENSG00000151929 HGNC:939 CACNA1C gene CACNA1C South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C Expert Review Green;South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;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 24183960;doi:10. 1007/ s12265-016-9673-5;26253506 False 3 25;50;25 22.57 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Brugada syndrome (Version 1.7);UKGTN;Expert Review Green;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature Sudden unexplained death or survivors of a cardiac event 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;Short QT;CACNA1C-related disorder 24291113;16301704;30027834;30279520;17224476;28427417;28490369;29759541;29697308 False 3 50;25;25 22.57 False ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916 27761157;19121813 False 3 83;17;0 22.57 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM1 gene CALM1 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 False 3 33;67;0 22.57 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM2 gene CALM2 South West GLH;London South GLH;Expert Review Green;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event 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 80;20;0 22.57 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782 27516456 False 3 20;60;20 22.57 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALM3 gene CALM3 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782 False 3 20;60;20 22.57 False ENSG00000160014 ENSG00000160014 HGNC:1449 CASQ2 gene CASQ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938 27761157;19121813;16908766 False 3 86;14;0 22.57 False ENSG00000118729 ENSG00000118729 HGNC:1513 CDH2 gene CDH2 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 22.57 False ENSG00000170558 ENSG00000170558 HGNC:1759 CSRP3 gene CSRP3 Expert Review Green;South West GLH;London South GLH;North West GLH;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 12 (612124);?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, familial hypertrophic, 12 27532257;28369730;30681346 False 3 71;14;14 22.57 True ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES South West GLH;London South GLH;Expert Review Green;UKGTN;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1I (604765);Myopathy, myofibrillar, 1 (601419);Scapuloperoneal syndrome, neurogenic, Kaeser type (181400) 29567486;23168288;30370089;20829228;25921558;29212896 False 3 43;43;14 22.57 False ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Myopathy, myofibrillar, 1 (601419);Cardiomyopathy, dilated, 1I, (604765);Cardiomyopathy, dilated, 1I, 20186049;27532257 False 3 57;14;29 22.57 False ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Desminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 16376610;16890305 False 3 60;40;0 22.57 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Literature;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Becker muscular dystrophy, 300376;Cardiomyopathy, dilated, 3B, 302045;Duchenne muscular dystrophy, 310200 GeneReviews: Dystrophinopathies False 3 100;0;0 22.57 False ENSG00000198947 ENSG00000198947 HGNC:2928 DOLK gene DOLK Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal False 3 50;50;0 22.57 False ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476);Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 (610476) 23500315;27532257 False 3 86;14;0 22.57 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSC2 gene DSC2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 (610476); Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair ;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476) 27532257;23500315;29567486 False 3 86;14;0 22.57 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10;Arrhythmogenic right ventricular dysplasia 10 (610193);Cardiomyopathy, dilated, 1BB (612877) 23500315;27532257 False 3 86;14;0 22.57 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSG2 gene DSG2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1BB (612877);Arrhythmogenic right ventricular dysplasia 10 ;Arrhythmogenic right ventricular dysplasia 10 (610193) 27532257;23500315;29567486 False 3 86;14;0 22.57 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD);Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) 23500315;27532257;35348702 False 3 86;14;0 22.57 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSP gene DSP South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD);Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) 27532257;23500315;35348702 False 3 86;14;0 22.57 False ENSG00000096696 ENSG00000096696 HGNC:3052 EMD gene EMD Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 50;50;0 22.57 False ENSG00000102119 ENSG00000102119 HGNC:3331 EMD gene EMD Expert Review Green;South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Heart conduction disease, MONDO:0000992 29349559 False 3 50;50;0 22.57 False ENSG00000102119 ENSG00000102119 HGNC:3331 FHL1 gene FHL1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718);Myopathy, X-linked, with postural muscle atrophy (300696);?Uruguay faciocardiomusculoskeletal syndrome (300280);Scapuloperoneal myopathy, X-linked dominant (300695);Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717);Emery-Dreifuss muscular dystrophy 6, X-linked (300696) 27532257;28369730;30681346;20186852;22523091;29926425 False 3 83;17;0 22.57 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, MONDO:0005045 23255317;29907873;31742804;32335906;30442288 False 3 50;50;0 22.57 False ENSG00000134775 ENSG00000134775 HGNC:26178 FLNC gene FLNC Expert Review Green;South West GLH;Wessex and West Midlands GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883 25351925;28356264;30411535;30681346 False 3 60;40;0 22.57 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;Literature;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 30067491;28008423 False 3 100;0;0 22.57 False ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;Wessex and West Midlands GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883 27908349;26666891;31924696 False 3 100;0;0 22.57 True ENSG00000128591 ENSG00000128591 HGNC:3756 GLA gene GLA South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease (301500);syndromic HCM;Fabry disease, cardiac variant (301500) 27532257;28369730;29649853;27225851 False 3 83;17;0 22.57 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, cardiac variant, OMIM:301500 False 3 50;50;0 22.57 False ENSG00000102393 ENSG00000102393 HGNC:4296 HCN4 gene HCN4 Expert Review Green;South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 2, OMIM:163800 19796353;16407510;12750403;17646576 False 3 75;25;0 22.57 False ENSG00000138622 ENSG00000138622 HGNC:16882 JUP gene JUP South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 27532257;23500315 False 3 86;14;0 22.57 False ENSG00000173801 ENSG00000173801 HGNC:6207 JUP gene JUP Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 23500315;27532257 False 3 86;14;0 22.57 False ENSG00000173801 ENSG00000173801 HGNC:6207 KCNE1 gene KCNE1 Expert Review Green;Emory Genetics Laboratory;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Long QT syndrome (Version 1.5);Brugada syndrome (Version 1.7);Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada;Short QT syndrome 1 (609620);ventricular fibrillation;cardiac arrest;Short QT syndrome 1 609620;Long QT syndrome-2 (613688);short qt;atrial fibrillation 16226079;16301704;4676148;15828882;19340359;18692916;21130771;25974115;29016797;29759541;16011830;19439805;22194679;16039272;29085299 False 3 71;14;14 22.57 False Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH2 gene KCNH2 Expert Review Green;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature Sudden unexplained death or survivors of a cardiac event 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 16226079;16301704;15761194;22155372;23440193;24794859;22311718;22308236;19285083;19710529;25691870 False 3 57;14;29 22.57 False Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ2 gene KCNJ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 West Midlands, Oxford and Wessex GLH;Expert Review Green;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Other Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 2, OMIM:609621;Long QT syndrome-1, OMIM:192500;Atrial fibrillation, familial, 3, OMIM:607554 16226079;16301704;15159330;16109388;26168993;26346102;25974115;29697308 False 3 62;38;0 22.57 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1 gene KCNQ1 Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000053918 ENSG00000053918 HGNC:6294 KLHL24 gene KLHL24 NHS GMS;Expert Review Green;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236;cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 30715372;32870709;36672924 False 3 100;0;0 22.57 False ENSG00000114796 ENSG00000114796 HGNC:25947 LAMP2 gene LAMP2 Expert Review Green;NHS GMS;Literature Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (300257) 21415759;12084876 False 3 100;0;0 22.57 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, 300257 False 3 50;50;0 22.57 False ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (300257);syndromic HCM 27532257;28369730;26835038 False 3 83;17;0 22.57 False ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert Review Green;South West GLH;London South GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Laminopathy-associated AV conduction block;atrioventricular block (disease), MONDO:0000465 18035086;27884249;29095976;23582089 False 3 67;33;0 22.57 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;South West GLH;London South GLH;UKGTN;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LMNA-related DCM 35348702 False 3 33;33;33 22.57 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;UKGTN;Eligibility statement prior genetic testing;Radboud University Medical Center, Nijmegen;South West GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, congenital (613205);Malouf syndrome (212112);Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Heart-hand syndrome, Slovenian type (610140);Hutchinson-Gilford progeria (176670);Cardiomyopathy, dilated, 1A (115200);Restrictive dermopathy, lethal (275210);Lipodystrophy, familial partial, type 2 (151660);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516);Charcot-Marie-Tooth disease, type 2B1 (605588);Mandibuloacral dysplasia (248370);Cardiomyopathy, dilated, 1A 20186049;27532257;35348702 False 3 71;14;14 22.57 False ENSG00000160789 ENSG00000160789 HGNC:6636 MYBPC3 gene MYBPC3 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1MM;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 20186049;27532257 False 3 33;33;33 22.57 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYBPC3 gene MYBPC3 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4, ;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050 20186049;27532257 False 3 83;17;0 22.57 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647 27532257;28369730;30681346;27532257 False 3 83;17;0 22.57 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424;Cardiomyopathy, hypertrophic, 10, OMIM:608758 23365102;27532257;28369730;30681346;31127036;32453731;33731536 False 3 86;14;0 22.57 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8,;Cardiomyopathy, familial hypertrophic, 8 (608751) 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000160808 ENSG00000160808 HGNC:7584 NEXN gene NEXN Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1CC, OMIM:613122;Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261 19881492;27532257;32058062;33027564;33949776;35166435 False 3 38;50;12 22.57 False ENSG00000162614 ENSG00000162614 HGNC:29557 NKX2-5 gene NKX2-5 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 22.57 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX2-5 gene NKX2-5 Expert Review Green;South West GLH;London South GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 7, with or without AV conduction defects OMIM:108900 28259982;15109497 False 3 50;50;0 22.57 False ENSG00000183072 ENSG00000183072 HGNC:2488 PKP2 gene PKP2 Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular dysplasia 9 (609040) 23500315;27532257 False 3 86;14;0 22.57 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9 (609040);Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 27532257;23500315 False 3 86;14;0 22.57 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18 (613874) 20186049;27532257 False 3 71;14;14 22.57 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 18, ;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;28369730;22820313;30681346 False 3 83;17;0 22.57 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 22820313;28102477;23595706;23568436;24909667;25700660;30763825;28102477 False 3 57;29;14 22.57 True ENSG00000198523 ENSG00000198523 HGNC:9080 PPA2 gene PPA2 Expert Review Green;NHS GMS;Expert Review Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222;?Sudden cardiac failure, alcohol-induced, OMIM:617223 34400813 False 3 100;0;0 22.57 False ENSG00000138777 ENSG00000138777 HGNC:28883 PRDM16 gene PRDM16 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1LL, OMIM:615373;Left ventricular noncompaction 8, OMIM:615373;left ventricular noncompaction 8, MONDO:0014152 24387996;24387995;29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411;35862303;32083975 False 3 80;20;0 22.57 False ENSG00000142611 ENSG00000142611 HGNC:14000 PRKAG2 gene PRKAG2 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;UKGTN;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome (194200);syndromic HCM;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Cardiomyopathy, familial hypertrophic 6,;Cardiomyopathy, familial hypertrophic 6 (600858);Glycogen storage disease of heart, lethal congenital (261740) 27532257;28369730;26835038;15673802 False 3 83;17;0 22.57 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKAG2 gene PRKAG2 Expert Review Green;London South GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome, OMIM:194200 26729852;12015471;26085771 False 3 60;40;0 22.57 False ENSG00000106617 ENSG00000106617 HGNC:9386 RBM20 gene RBM20 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD;Cardiomyopathy, dilated, 1DD (613172) 20186049;27532257 False 3 83;17;0 22.57 False ENSG00000203867 ENSG00000203867 HGNC:27424 RYR2 gene RYR2 Expert Review Green;Expert List;South West GLH;London South GLH;Wessex and West Midlands GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) 20301310;19926015;17875969;25163546;32748945 False 3 44;44;11 22.57 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772 27761157;19121813;16391617 False 3 86;14;0 22.57 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 1, 601144;Brugada syndrome 1, MONDO:0011001 20031634;27761167;29959160;https://search.clinicalgenome.org/kb/gene-validity/10165 False 3 100;0;0 22.57 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Sudden unexplained death or survivors of a cardiac event 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 22.57 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;South West GLH;London South GLH;Wessex and West Midlands GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart block, progressive, OMIM:113900;Heart block, progressive, type IA, OMIM:113900 11804990;16643399;15466643;15372490 False 3 71;29;0 22.57 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1E 20186049;27532257;35701104 False 3 83;17;0 22.57 False ENSG00000183873 ENSG00000183873 HGNC:10593 TBX20 gene TBX20 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 67;33;0 22.57 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX20 gene TBX20 Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 67;33;0 22.57 False ENSG00000164532 ENSG00000164532 HGNC:11598 TECRL gene TECRL NHS GMS;Expert Review Green;South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021 27861123;30790670;32173957;33367594 False 3 75;25;0 22.57 False ENSG00000205678 ENSG00000205678 HGNC:27365 TMEM43 gene TMEM43 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5 (604400);Arrhythmogenic right ventricular dysplasia 5 ;Emery-Dreifuss muscular dystrophy 7, AD (614302) 27532257;23812740;29567486;26840987 False 3 86;14;0 22.57 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM43 gene TMEM43 Expert List;Expert Review Green;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5;Arrhythmogenic right ventricular dysplasia 5 (604400);Emery-Dreifuss muscular dystrophy 7, AD (614302) 23812740;27532257 False 3 86;14;0 22.57 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 13 (613243);Cardiomyopathy, dilated, 1Z;Cardiomyopathy, dilated, 1Z (611879) 20186049;27532257 False 3 50;33;17 22.57 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNC1 gene TNNC1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 13, ;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, hypertrophic, 13 (613243) 27532257;28369730;30681346 False 3 67;33;0 22.57 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 7 ;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, hypertrophic, 7 (613690) 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3 gene TNNI3 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, dilated, 2A,;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, dilated, 1FF;Cardiomyopathy, hypertrophic, 7 (613690) 20186049;27532257;21533915 False 3 83;17;0 22.57 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 22.57 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNI3K gene TNNI3K Expert Review Green;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy, OMIM:616117 24925317;25791106;29355681;30010057 False 3 100;0;0 22.57 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Cardiomyopathy, familial hypertrophic, 2 ;Left ventricular noncompaction 6 (601494) 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000118194 ENSG00000118194 HGNC:11949 TNNT2 gene TNNT2 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Left ventricular noncompaction 6 (601494) 20186049;27532257;20031601 False 3 83;17;0 22.57 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y;Cardiomyopathy, dilated, 1Y (611878);Cardiomyopathy, hypertrophic, 3 (115196);Left ventricular noncompaction 9 ( 611878) 20186049;27532257 False 3 83;17;0 22.57 False ENSG00000140416 ENSG00000140416 HGNC:12010 TPM1 gene TPM1 South West GLH;London South GLH;North West GLH;Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, hypertrophic, 3 (115196);Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y (611878) 27532257;28369730;30681346 False 3 83;17;0 22.57 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441 26200674 False 3 83;17;0 22.57 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRIM63 gene TRIM63 Expert Review Green;South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 31, OMIM:621270;cardiomyopathy, familial hypertrophic, 31, MONDO:0979573 32451364;22821932 False 3 50;50;0 22.57 False ENSG00000158022 ENSG00000158022 HGNC:16007 TTN gene TTN Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, proximal, with early respiratory muscle involvement (603689);Cardiomyopathy, familial hypertrophic, 9 (613765);Tibial muscular dystrophy, tardive (600334);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, dilated, 1G (604145);Salih myopathy (611705);Cardiomyopathy, dilated, 1G 20186049;27532257;22335739;25589632;29238064;26777568;27869827 False 3 71;14;14 22.57 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR South West GLH;London South GLH;Expert Review Green;Wessex and West Midlands GLH;Expert list;Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac amyloidosis;Amyloidosis, hereditary, transthyretin-related, 105210 28475415;16115295;16194874;26537620;1626570;1570831;30878017;31131842;31118583;31111153;30120737 False 3 60;40;0 22.57 False ENSG00000118271 ENSG00000118271 HGNC:12405 TTR gene TTR Expert Review Green;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 3 50;50;0 22.57 False ENSG00000118271 ENSG00000118271 HGNC:12405 VCL gene VCL Expert Review Green;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;South West GLH;London South GLH;North West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W;Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, hypertrophic, 15 (613255) 20186049;27532257 False 3 83;17;0 22.57 False ENSG00000035403 ENSG00000035403 HGNC:12665