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 South West GLH;North West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;24439875 False 1 0;0;100 23.2 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCC9 gene ABCC9 Expert Review Red;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Wessex and West Midlands 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;Wessex and West Midlands GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1O (608569);Dilated Cardiomyopathy, Dominant;Cardiomyopathy, dilated, 1O;Atrial fibrillation, familial, 12 (614050) 15034580;27532257 False 1 0;33;67 23.2 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCC9 gene ABCC9 North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Sudden unexplained death or survivors of a cardiac event 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 23.2 False Other ENSG00000069431 ENSG00000069431 HGNC:60 ACADVL gene ACADVL South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Dilated cardiomyopathy 16945537; doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 23.2 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 NHS GMS;Expert Review Red Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 23.2 False ENSG00000077522 ENSG00000077522 HGNC:164 AGL gene AGL South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000162688 ENSG00000162688 HGNC:321 AKAP9 gene AKAP9 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000127914 ENSG00000127914 HGNC:379 AKAP9 gene AKAP9 South West GLH;North West GLH;Expert Review Red;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-11 (611820);Long QT syndrome-11 25087618 False 1 0;0;100 23.2 False ENSG00000127914 ENSG00000127914 HGNC:379 ALG10 gene ALG10 South West GLH;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;25;75 23.2 False ENSG00000139133 ENSG00000139133 HGNC:23162 ALG10B gene ALG10B Other Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 23.2 False ENSG00000175548 ENSG00000175548 HGNC:31088 ALG10B gene ALG10B Other Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Acquired long QT syndrome, reduced susceptibility to} OMIM:613688 15280551 False 1 0;0;100 23.2 False ENSG00000175548 ENSG00000175548 HGNC:31088 ANK2 gene ANK2 South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 False 1 0;50;50 23.2 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert list Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30929919 False 1 0;0;100 23.2 False ENSG00000145362 ENSG00000145362 HGNC:493 ANK2 gene ANK2 South West GLH;North West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27761167;27818464 False 1 0;25;75 23.2 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 South West GLH;London South GLH;Expert list;UKGTN Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;33;67 23.2 False ENSG00000148677 ENSG00000148677 HGNC:15819 ATP5E gene ATP5E South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown syndromic HCM False 1 0;50;50 23.2 False ENSG00000124172 ENSG00000124172 HGNC:838 BRAF gene BRAF South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000157764 ENSG00000157764 HGNC:1097 CACNA1C gene CACNA1C South West GLH;London South GLH;Expert Review Red;Expert list;Emory Genetics Laboratory;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 Brugada syndrome 3, MONDO:0012742 False 1 0;0;100 23.2 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA2D1 gene CACNA2D1 South West GLH;London South GLH;North West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 17224476;20817017;27761167 False 1 0;0;100 23.2 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome 4 (611876) 17224476;27761167 False 1 0;25;75 23.2 False ENSG00000165995 ENSG00000165995 HGNC:1402 CALM1 gene CALM1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 23.2 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALR3 gene CALR3 South West GLH;Expert list;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;50;50 23.2 False ENSG00000269058 ENSG00000269058 HGNC:20407 CASQ2 gene CASQ2 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Left ventricular non-compaction; Catecholaminergic polymorphic ventricular tachycardia False 1 0;0;100 23.2 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 South West GLH;London South GLH;Expert Review Red;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, False 1 0;33;67 23.2 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5);Emory Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 23.2 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;London South GLH;Expert Review Red;Emory Genetics Laboratory;Expert list;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 Long QT syndrome-9 17060380 False 1 17;17;67 23.2 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;50;50 23.2 False ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN4 gene CAVIN4 South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology Unknown False 1 0;100;0 23.2 False ENSG00000170681 ENSG00000170681 HGNC:33742 COA5 gene COA5 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000183513 ENSG00000183513 HGNC:33848 CRYAB gene CRYAB South West GLH;London South GLH;Radboud University Medical Center, Nijmegen;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, OMIM:608810 False 1 0;33;67 23.2 False ENSG00000109846 ENSG00000109846 HGNC:2389 CTNNA3 gene CTNNA3 South West GLH;Expert Review Red;Radboud University Medical Center, Nijmegen;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia, familial, 13, False 1 0;0;100 23.2 False ENSG00000183230 ENSG00000183230 HGNC:2511 DES gene DES South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;100;0 23.2 False ENSG00000175084 ENSG00000175084 HGNC:2770 DLG1 gene DLG1 Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000075711 ENSG00000075711 HGNC:2900 DLG1 gene DLG1 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 23.2 False ENSG00000075711 ENSG00000075711 HGNC:2900 EYA4 gene EYA4 Expert Review Red;UKGTN;South West GLH;Radboud University Medical Center, Nijmegen;Wessex and West Midlands GLH;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Expert list;South West GLH;London South GLH;North West GLH;Wessex and West Midlands GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1J, OMIM:605362 27532257;15735644 False 1 0;33;67 23.2 False ENSG00000112319 ENSG00000112319 HGNC:3522 FHOD3 gene FHOD3 Expert Review Red;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000134775 ENSG00000134775 HGNC:26178 FLNC gene FLNC NHS GMS;Expert Review Red Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Heart conduction disease, MONDO:0000992 False 1 0;0;100 23.2 False ENSG00000128591 ENSG00000128591 HGNC:3756 FOXRED1 gene FOXRED1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown syndromic HCM False 1 0;50;50 23.2 False ENSG00000110074 ENSG00000110074 HGNC:26927 FXN gene FXN South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 0;50;50 23.2 False Other - please provide details in the comments ENSG00000165060 ENSG00000165060 HGNC:3951 GAA gene GAA South West GLH;London South GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;67;33 23.2 False ENSG00000171298 ENSG00000171298 HGNC:4065 GATAD1 gene GATAD1 Expert Review Red;NHS GMS Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000157259 ENSG00000157259 HGNC:29941 GJA5 gene GJA5 South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 22247482 False 1 0;33;67 23.2 False ENSG00000143140 ENSG00000265107 HGNC:4279 GLB1 gene GLB1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000170266 ENSG00000170266 HGNC:4298 GPD1L gene GPD1L Expert Review Red;South West GLH;London South GLH;North West GLH;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 Unknown Brugada syndrome 2, OMIM:611777 27761167;19666841 False 1 0;25;75 23.2 False ENSG00000152642 ENSG00000152642 HGNC:28956 GPD1L gene GPD1L North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 (611777) 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000152642 ENSG00000152642 HGNC:28956 GUSB gene GUSB South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000169919 ENSG00000169919 HGNC:4696 HCN4 gene HCN4 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;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 Brugada syndrome 8, OMIM:613123 27761167 False 1 25;0;75 23.2 False ENSG00000138622 ENSG00000138622 HGNC:16882 HCN4 gene HCN4 North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000138622 ENSG00000138622 HGNC:16882 HRAS gene HRAS South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000174775 ENSG00000174775 HGNC:5173 KCND3 gene KCND3 Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCND3 gene KCND3 South West GLH;London South GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 9, OMIM:616399 False 1 0;0;100 23.2 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 16818210; doi:10. 1007/ s12265-016-9673-5 False 1 0;0;100 23.2 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE1 gene KCNE1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) 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 16301704;26168993 False 1 50;0;50 23.2 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Atrial fibrillation, familial, 4 (611493) 16301704 False 1 50;0;50 23.2 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 North West GLH;Brugada syndrome (Version 1.7);Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Brugada syndrome 6 (613119) 16301704 False 1 0;50;50 23.2 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE3 gene KCNE3 Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology Unknown ?Brugada syndrome 6, OMIM:613119 19122847;27761167 False 1 0;25;75 23.2 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE3 gene KCNE3 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Long QT syndrome; Brugada syndrome 19306396;doi:10. 1007/ s12265-016-9673-5;19306396 False 1 0;0;100 23.2 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 29350269;30289750 False 1 0;0;100 23.2 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNE5 gene KCNE5 Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology atrial fibrillation;Brugada syndrome 29350269 False 1 0;0;100 23.2 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNH2 gene KCNH2 Expert Review Red;South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 16043162;19174314;18692916 False 1 17;17;67 23.2 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 South West GLH;North West GLH;UKGTN;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990 27761157 False 1 0;0;100 23.2 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 North West GLH;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ5 gene KCNJ5 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Expert list;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 Hyperaldosteronism, familial, type III (613677);Long QT syndrome 13 (613485);Long QT syndrome 13 19716085 False 1 29;29;43 23.2 True ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Red;Brugada syndrome (Version 1.7);Literature Sudden unexplained death or survivors of a cardiac event Cardiology Unknown short qt;ventricular tachycardia;atrial fibrillation 21383000;15569843;27283775 False 1 0;0;100 23.2 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 KCNJ8 gene KCNJ8 South West GLH;London South GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 23.2 False ENSG00000121361 ENSG00000121361 HGNC:6269 KCNK17 gene KCNK17 South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Heart conduction disease, MONDO:0000992 24972929 False 1 0;33;67 23.2 False ENSG00000124780 ENSG00000124780 HGNC:14465 KCNQ1 gene KCNQ1 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Long QT syndrome; Short QT syndrome False 1 0;0;100 23.2 False ENSG00000053918 ENSG00000053918 HGNC:6294 KLF10 gene KLF10 South West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Hypertrophic cardiomyopathy False 1 0;0;100 23.2 False ENSG00000155090 ENSG00000155090 HGNC:11810 LDB3 gene LDB3 South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;33;67 23.2 False ENSG00000122367 ENSG00000122367 HGNC:15710 LDB3 gene LDB3 South West GLH;London South GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;67;33 23.2 False ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA South West GLH;Expert list;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic False 1 0;0;100 23.2 False ENSG00000160789 ENSG00000160789 HGNC:6636 LRP5 gene LRP5 Expert Review Red;Literature Sudden unexplained death or survivors of a cardiac event Cardiology Unknown short qt 30309679 False 1 0;0;100 23.2 False Other ENSG00000162337 ENSG00000162337 HGNC:6697 LZTR1 gene LZTR1 Expert Review Red;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal RASopathy-associated cardiomyopathy 30368668;30732632 False 1 25;0;75 23.2 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown syndromic HCM False 1 0;50;50 23.2 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown syndromic HCM False 1 0;50;50 23.2 False ENSG00000126934 ENSG00000126934 HGNC:6842 MRPL3 gene MRPL3 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000114686 ENSG00000114686 HGNC:10379 MYH6 gene MYH6 Expert Review Red;South West GLH;London South GLH;North West GLH;Wessex and West Midlands GLH;Expert list;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 Cardiomyopathy, dilated, 1EE (613252);Atrial septal defect 3 (614089);{Sick sinus syndrome 3} (614090);Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, familial hypertrophic, 14 27532257;22194935;30531895;28082330 False 1 0;20;80 23.2 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYO6 gene MYO6 South West GLH;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy False 1 0;50;50 23.2 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYOM1 gene MYOM1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown False 1 0;100;0 23.2 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 South West GLH;London South GLH;Expert Review Red;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, 16, False 1 0;33;67 23.2 False ENSG00000172399 ENSG00000172399 HGNC:1330 NEXN gene NEXN Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;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, 20, OMIM:613876 27532257;20970104 False 1 0;33;67 23.2 False ENSG00000162614 ENSG00000162614 HGNC:29557 NOS1AP gene NOS1AP Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000198929 ENSG00000198929 HGNC:16859 NOS1AP gene NOS1AP South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown False 1 0;33;67 23.2 False ENSG00000198929 ENSG00000198929 HGNC:16859 NRAS gene NRAS South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000213281 ENSG00000213281 HGNC:7989 PDLIM3 gene PDLIM3 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown False 1 0;50;50 23.2 False ENSG00000154553 ENSG00000154553 HGNC:20767 PKP2 gene PKP2 North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 9 (609040) 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 South West GLH;London South GLH;North West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 27085656;27761167 False 1 0;0;100 23.2 False ENSG00000057294 ENSG00000057294 HGNC:9024 PTPN11 gene PTPN11 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000132155 ENSG00000132155 HGNC:9829 RANGRF gene RANGRF South West GLH;London South GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;33;67 23.2 False ENSG00000108961 ENSG00000108961 HGNC:17679 RANGRF gene RANGRF Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;100 23.2 False ENSG00000108961 ENSG00000108961 HGNC:17679 RBM20 gene RBM20 London South GLH Sudden unexplained death or survivors of a cardiac event Cardiology Cardiomyopathy, dilated, 1DD 613172 29650543;22466703;22561820;30482687 False 1 25;25;50 23.2 False ENSG00000203867 ENSG00000203867 HGNC:27424 RYR2 gene RYR2 Expert Review Red;South West GLH;London South GLH;Wessex and West Midlands GLH;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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) http://www.ncbi.nlm.nih.gov/books/NBK1131/;19926015;17875969;29567486;28404607 False 1 25;50;25 23.2 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 North West GLH;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 South West GLH;London South GLH;Literature Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A North West GLH;Expert Review Red;Brugada syndrome (Version 1.7);Literature Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN10A gene SCN10A Expert Review Red;South West GLH;London South GLH;North West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 24998131;27761167 False 1 25;0;75 23.2 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event 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 25253298;27761167 False 1 25;0;75 23.2 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN1B gene SCN1B North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2B gene SCN2B Expert Review Red;South West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 False 1 0;0;100 23.2 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN2B gene SCN2B Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;0 23.2 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3B gene SCN3B Expert Review Red;South West GLH;London South GLH;North West GLH;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome 7, OMIM:613120 23257389;27761167 False 1 25;0;75 23.2 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN3B gene SCN3B North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000177098 ENSG00000177098 HGNC:10592 SCN4B gene SCN4B South West GLH;London South GLH;North West GLH;Expert Review Red;UKGTN;Expert list;Emory Genetics Laboratory;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 Long QT syndrome-10 ;Long QT syndrome-10 (611819) 17592081 False 1 0;14;86 23.2 False Other - please provide details in the comments ENSG00000177098 ENSG00000177098 HGNC:10592 SCN5A gene SCN5A South West GLH;London South GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy; Long QT syndrome; Brugada syndrome; Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy 24317018;doi:10. 1007/ s12265-016-9673-5;26916278;28069705 False 1 20;20;60 23.2 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO2 gene SCO2 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 23.2 False ENSG00000130489 ENSG00000130489 HGNC:10604 SHOC2 gene SHOC2 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC22A5 gene SLC22A5 Expert Review Red;West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;Literature Sudden unexplained death or survivors of a cardiac event 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 23.2 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A3 gene SLC25A3 South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Mitochondrial phosphate carrier deficiency, 610773 False 1 0;33;67 23.2 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A4 gene SLC25A4 South West GLH;North West GLH;Literature Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418);Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283);Hypertrophic cardiomyopathy 25732997;27532257 False 1 0;0;100 23.2 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLMAP gene SLMAP Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology False 1 0;0;0 23.2 False ENSG00000163681 ENSG00000163681 HGNC:16643 SLMAP gene SLMAP South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology Unknown Brugada syndrome, MONDO:0015263 False 1 0;0;100 23.2 False ENSG00000163681 ENSG00000163681 HGNC:16643 SNTA1 gene SNTA1 Expert Review Red;South West GLH;London South GLH;North West GLH;UKGTN;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 19684871 False 1 17;33;50 23.2 True ENSG00000101400 ENSG00000101400 HGNC:11167 SNTA1 gene SNTA1 North West GLH;Emory Genetics Laboratory;Long QT syndrome (Version 1.5) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 (612955) 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000101400 ENSG00000101400 HGNC:11167 SOS1 gene SOS1 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 23.2 False ENSG00000115904 ENSG00000115904 HGNC:11187 TBX1 gene TBX1 Expert Review Red;Literature Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, HP:0001639 41130538 False 1 0;50;50 23.2 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX3 gene TBX3 Expert Review Red;South West GLH Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heart conduction disease, MONDO:0000992 30820409 False 1 0;33;67 23.2 False ENSG00000135111 ENSG00000135111 HGNC:11602 TCAP gene TCAP South West GLH;London South GLH;North West GLH;Expert list;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 25 (607487);Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 15582318;27532257 False 1 0;25;75 23.2 False ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 South West GLH;London South GLH;Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 False 1 0;20;80 23.2 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMEM70 gene TMEM70 South West GLH;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;100;0 23.2 False ENSG00000175606 ENSG00000175606 HGNC:26050 TRPM4 gene TRPM4 North West GLH;Brugada syndrome (Version 1.7) Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB (604559) 30420954;19862833;16301704 False 1 0;0;100 23.2 False ENSG00000130529 ENSG00000130529 HGNC:17993 TRPM4 gene TRPM4 Expert Review Red;South West GLH;North West GLH;Oxford Medical Genetics Laboratory Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome, MONDO:0015263 23382873;27761167 False 1 25;0;75 23.2 False ENSG00000130529 ENSG00000130529 HGNC:17993 TSFM gene TSFM South West GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 False 1 0;33;67 23.2 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN South West GLH;Expert Review Red;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, 9, http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 1 0;0;100 23.2 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN South West GLH;London South GLH;Expert Review Red;Expert list Sudden unexplained death or survivors of a cardiac event Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1G, 604145 30535219;31251381;33106378 False 1 17;17;67 23.2 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL South West GLH;North West GLH;Expert list;Radboud University Medical Center, Nijmegen Sudden unexplained death or survivors of a cardiac event Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, familial hypertrophic, 15, ;Cardiomyopathy, hypertrophic, 15 (613255) 27532257;28369730 False 1 0;0;100 23.2 False ENSG00000035403 ENSG00000035403 HGNC:12665