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 ACTA1 gene ACTA1 Expert Review Amber;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy;Hypertrophic cardiomyopathy;Nemaline myopathy 3, autosomal dominant or recessive 161800;CMD with rigid spine;Myopathy, congenital, with fiber-type disproportion 1 255310 26888179;16945537 False 2 0;100;0 0.13 False ENSG00000143632 ENSG00000143632 HGNC:129 ANKRD1 gene ANKRD1 Expert Review Amber;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 2 0;100;0 0.13 False ENSG00000148677 ENSG00000148677 HGNC:15819 BRAF gene BRAF Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan Syndrome;syndromic HCM;LEOPARD syndrome 3;LEOPARD Syndrome;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous Syndrome 21396583;19206169 False 2 0;100;0 0.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CACNA2D1 gene CACNA2D1 Expert Review Amber;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;cardiac arrhythmia;Brugada/Brugada like syndrome;Sudden death;Brugada syndrome;aborted sudden death;Short QT syndrome 6 20817017;27761167;17224476;16301704;19862833;30420954 False 2 0;50;50 0.13 False ENSG00000153956 ENSG00000153956 HGNC:1399 CBL gene CBL Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 20543203;19571318;PMID: 20619386 False 2 0;100;0 0.13 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 CRYAB gene CRYAB Expert Review Amber;London South GLH Sudden cardiac death - previous panel Unknown Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869;Cardiomyopathy, dilated, 1II, False 2 0;100;0 0.13 False ENSG00000109846 ENSG00000109846 HGNC:2389 DNAJC19 gene DNAJC19 Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy with ataxia syndrome;3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V 27426421;27604308;16055927;27928778;22797137 False 2 0;100;0 0.13 False ENSG00000205981 ENSG00000205981 HGNC:30528 DOLK gene DOLK Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type Im 610768;syndromic DCM 23890587;17273964;22242004 False 2 0;100;0 0.13 False ENSG00000175283 ENSG00000175283 HGNC:23406 FKRP gene FKRP Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153;Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612 27604308 False 2 0;100;0 0.13 False ENSG00000181027 ENSG00000181027 HGNC:17997 FXN gene FXN Expert Review Amber;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Hereditary ataxia;syndromic HCM;Friedreich ataxia, 229300;Friedreich ataxia with retained reflexes, 229300;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 2 0;100;0 0.13 False Other - please provide details in the comments ENSG00000165060 ENSG00000165060 HGNC:3951 GATAD1 gene GATAD1 Expert Review Amber;London South GLH Sudden cardiac death - previous panel Unknown Cardiomyopathy, dilated, 2B False 2 0;100;0 0.13 False ENSG00000157259 ENSG00000157259 HGNC:29941 JPH2 gene JPH2 Expert Review Amber;London South GLH Sudden cardiac death - previous panel Unknown Cardiomyopathy, familial hypertrophic 17, 17476457;28393127;17509612 False 2 0;100;0 0.13 False ENSG00000149596 ENSG00000149596 HGNC:14202 KCNJ8 gene KCNJ8 Expert Review Amber;London South GLH Sudden cardiac death - previous panel Unknown short qt;arrhythmia;ventricular tachycardia;atrial fibrillation;Brugada/Brugada like syndrome;Sudden infant death syndrome;?Ventricular fibrillation 19120683 False 2 0;100;0 0.13 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 LAMA2 gene LAMA2 Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Congenital Muscular Dystrophy, LAMA2-related;Muscular dystrophy, congenital merosin-deficient, 607855;Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 False 2 0;100;0 0.13 False ENSG00000196569 ENSG00000196569 HGNC:6482 MYLK2 gene MYLK2 Expert Review Amber;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, midventricular, digenic,;Cardiomyopathy, hypertrophic, 1, digenic (192600) 27532257;28369730 False 2 50;50;0 0.13 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYPN gene MYPN Expert Review Amber;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomypathy, familial hypertrophic, 22,;Cardiomyopathy, dilated, 1KK False 2 0;100;0 0.13 False ENSG00000138347 ENSG00000138347 HGNC:23246 SCN1B gene SCN1B Expert Review Amber;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 5 (612838);Brugada syndrome 5;Cardiac conduction defect, nonspecific;Nonspecific Cardiac Conduction Defect;Cardiac conduction defect, nonspecific (612838);Atrial fibrillation, familial, 13 (615377);Epileptic encephalopathy, early infantile, 52 (617350);Epilepsy, generalized, with febrile seizures plus, type 1 (604233) 25253298;27761167 False 2 0;50;50 0.13 False ENSG00000105711 ENSG00000105711 HGNC:10586 SNTA1 gene SNTA1 Expert Review Amber;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955;Long QT syndrome 12 (612955) 19684871;19862833;16301704;30420954 False 2 0;50;50 0.13 False ENSG00000101400 ENSG00000101400 HGNC:11167 TRPM4 gene TRPM4 Expert Review Amber;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB (604559);Progressive familial heart block, type IB 604559 23382873 False 2 0;0;100 0.13 False ENSG00000130529 ENSG00000130529 HGNC:17993