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 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy;ventricular tachycardia;Cardiomyopathy, dilated, 1O (608569);atrial fibrillation;Atrial fibrillation, familial, 12 (614050);Brugada syndrome;Cardiomyopathy, dilated, 1O 27532257;24439875;27761167;15034580 False 3 0;50;50 0.13 False Other ENSG00000069431 ENSG00000069431 HGNC:60 ACTC1 gene ACTC1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 5 (612794);Left ventricular noncompaction 4 (613424);Cardiomyopathy, dilated, 1R (613424);Hypertrophic Cardiomyopathy;Cardiomyopathy, familial hypertrophic, 11;Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R;Left Ventricular Noncompaction Cardiomyopathy;Left ventricular noncompaction 4 27532257;26061005;28369730 False 3 50;50;0 0.13 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant 25224718;27532257;26312134 False 3 50;50;0 0.13 False ENSG00000077522 ENSG00000077522 HGNC:164 ANK2 gene ANK2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac arrhythmia, ankyrin-B-related (600919);Long QT syndrome-4;Long QT syndrome 4 (600919);Cardiac arrhythmia, ankyrin-B-related 600919;catecholaminergic polymorphic ventricular tachycardia;Brugada/Brugada like syndrome;Long QT syndrome 4 600919 27761167;16301704;27818464;19862833;30420954;12571597 False 3 50;50;0 0.13 False ENSG00000145362 ENSG00000145362 HGNC:493 BAG3 gene BAG3 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH False 3 0;100;0 0.13 False ENSG00000151929 ENSG00000151929 HGNC:939 CACNA1C gene CACNA1C Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;brugada syndrome;scd;Long QT syndrome;Hypertrophic cardiomyopathy;syncope;Brugada syndrome 3 611875;Brugada syndrome;Brugada syndrome 3;Timothy syndrome (601005);Brugada syndrome 3 (611875) 24291113;18250309;16301704 False 3 50;50;0 0.13 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNB2 gene CACNB2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;brugada syndrome;Brugada syndrome 4 (611876);Brugada syndrome 4;Short QT syndrome 5;Brugada syndrome 4 611876 27761167;17224476;16301704;19862833;30420954 False 3 0;50;50 0.13 False ENSG00000165995 ENSG00000165995 HGNC:1402 CALM1 gene CALM1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 4;Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916);Long QT syndrome 14;catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome 14 (616247) 19121813;16301704;19862833;30420954;27761157 False 3 50;50;0 0.13 False ENSG00000198668 ENSG00000198668 HGNC:1442 CASQ2 gene CASQ2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Catecholaminergic polymorphic ventricular tachycardia;Left ventricular non-compaction;Hypertrophic cardiomyopathy;Ventricular tachycardia, catecholaminergic polymorphic, 2;Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938) 19121813;27761157 False 3 50;50;0 0.13 False ENSG00000118729 ENSG00000118729 HGNC:1513 COX15 gene COX15 Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119;Leigh syndrome due to cytochrome c oxidase deficiency, 256000;Isolated complex IV deficiency;Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex IV Deficiency 27604308 False 3 0;100;0 0.13 False ENSG00000014919 ENSG00000014919 HGNC:2263 CSRP3 gene CSRP3 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 12;?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, dilated, 1M;Cardiomyopathy, hypertrophic, 12 (612124) 27532257;28369730;18505755 False 3 50;50;0 0.13 False ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1I,;Cardiomyopathy, dilated, 1I, (604765);Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Myopathy, myofibrillar, 1 (601419) 27532257;20186049 False 3 50;50;0 0.13 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;London South GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Duchenne muscular dystrophy, 310200;Dilated Cardiomyopathy, X-Linked;Cardiomyopathy, dilated, 3B;Becker muscular dystrophy, 300376 False 3 0;100;0 0.13 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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) 27532257;23500315 False 3 50;50;0 0.13 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1BB,;Arrhythmogenic right ventricular dysplasia 10;Cardiomyopathy, dilated, 1BB (612877);Arrhythmogenic right ventricular dysplasia 10 (610193) 27532257;23500315 False 3 50;50;0 0.13 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, with woolly hair and keratoderma (605676);Skin fragility-woolly hair syndrome (607655);Dilated cardiomyopathy with woolly hair and keratoderma;Epidermolysis bullosa, lethal acantholytic (609638);Arrhythmogenic right ventricular dysplasia 8 (607450);Arrhythmogenic right ventricular dysplasia 8;Keratosis palmoplantaris striata II (612908);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821) 27532257;23500315 False 3 50;50;0 0.13 False ENSG00000096696 ENSG00000096696 HGNC:3052 EYA4 gene EYA4 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Cardiomyopathy, dilated, 1J (605362);Cardiomyopathy, dilated, 1J;Deafness, autosomal dominant 10 (601316) 27532257;15735644 False 3 0;50;50 0.13 False ENSG00000112319 ENSG00000112319 HGNC:3522 FHL1 gene FHL1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Uruguay faciocardiomusculoskeletal syndrome (300280);Myopathy, X-linked, with postural muscle atrophy (300696);Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718);Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717);Scapuloperoneal myopathy, X-linked dominant (300695);Emery-Dreifuss muscular dystrophy 6, X-linked (300696) 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKTN gene FKTN Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Dilated Cardiomyopathy, Recessive;Fukuyama Congenital Muscular Dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Cardiomyopathy, dilated, 1X;Fukuyama congenital muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;100;0 0.13 False ENSG00000106692 ENSG00000106692 HGNC:3622 GAA gene GAA Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300;syndromic HCM False 3 0;100;0 0.13 False ENSG00000171298 ENSG00000171298 HGNC:4065 GLA gene GLA Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500;Fabry disease, cardiac variant (301500);Fabry disease (301500);syndromic HCM;Fabry disease, cardiac variant, 301500;Fabry disease (Sphingolipidoses);Fabry Disease 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000102393 ENSG00000102393 HGNC:4296 HADHA gene HADHA Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308 False 3 0;100;0 0.13 False ENSG00000084754 ENSG00000084754 HGNC:4801 HCN4 gene HCN4 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Sick sinus syndrome 2 (163800);Brugada syndrome 8;Brugada syndrome 8 (613123) 19862833;27761167;16301704;30420954 False 3 50;50;0 0.13 False ENSG00000138622 ENSG00000138622 HGNC:16882 HFE gene HFE Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Hereditary haemochromatosis Type 1 (Disorder of iron metabolism);Hemochromatosis;Hemochromatosis, 235200 27604308 False 3 0;100;0 0.13 False ENSG00000010704 ENSG00000010704 HGNC:4886 HRAS gene HRAS Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome;syndromic HCM 21396583;16443854;16969868;16170316 False 3 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 ENSG00000174775 ENSG00000174775 HGNC:5173 JUP gene JUP Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 12 (611528);Naxos disease (601214);Arrhythmogenic right ventricular dysplasia 12 27532257;23500315 False 3 50;50;0 0.13 False ENSG00000173801 ENSG00000173801 HGNC:6207 KCNE1 gene KCNE1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2 (612347);Catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome;Long QT syndrome-5 (613695);Long QT syndrome-5 26168993;19716085;16301704 False 3 50;50;0 0.13 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 (613693);Long QT syndrome-6;Atrial fibrillation, familial, 4 (611493) 19716085;16301704 False 3 50;50;0 0.13 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome;Long QT syndrome;Brugada syndrome 6;?Brugada syndrome 6 (613119) 19122847;27761167;16301704 False 3 50;50;0 0.13 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNH2 gene KCNH2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;Long QT syndrome-2;Long QT syndrome-2 (613688);cardiac arrest;Short QT syndrome 1 (609620);ventricular fibrillation;atrial fibrillation;Brugada/Brugada like syndrome;Short QT syndrome 1 609620;Brugada;Long QT syndrome 2 613688 19716085;16301704;16226079 False 3 50;50;0 0.13 False Other - please provide details in the comments ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 9 (613980);short qt;Andersen syndrome (170390);ANDERSEN SYNDROME (170390);ventricular tacyarrhythmia;catecholaminergic polymorphic ventricular tachycardia;atrial fibrillation;LONG QT SYNDROME 7 (170390);Short QT syndrome 3 (609622);Short QT syndrome 3 609622 16301704;19716085;16226079;27761157 False 3 50;50;0 0.13 False Other - please provide details in the comments ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 13 (613485);Long QT syndrome 13;Hyperaldosteronism, familial, type III (613677) 19862833;19716085;16301704;30420954 False 3 50;50;0 0.13 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNQ1 gene KCNQ1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Atrial fibrillation, familial, 3 (607554);Long QT syndrome-1 (192500);Idiopathic Ventricular Fibrillation;Short QT-interval syndrome;Long QT syndrome;Hypertrophic cardiomyopathy;Jervell and Lange-Nielsen syndrome (220400);Long QT syndrome-1;Short QT syndrome;Short QT syndrome 2 609621;Short QT syndrome 2 (609621) 19716085;16301704;16226079 False 3 50;50;0 0.13 False ENSG00000053918 ENSG00000053918 HGNC:6294 KRAS gene KRAS Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Cardio-Facio-Cutaneous syndrome;CFC syndrome;Cardiofaciocutaneous syndrome 2;Cardiofaciocutaneous Syndrome;Noonan syndrome 3 21396583 False 3 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 ENSG00000133703 ENSG00000133703 HGNC:6407 LAMP2 gene LAMP2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) syndromic HCM;Danon disease (300257);Danon disease 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 3, with or without dilated cardiomyopathy;Cardiomyopathy, dilated 1C False 3 0;100;0 0.13 False ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic;Hutchinson-Gilford progeria (176670);Heart-hand syndrome, Slovenian type (610140);Muscular dystrophy, congenital (613205);Charcot-Marie-Tooth disease, type 2B1 (605588);Restrictive dermopathy, lethal (275210);Congenital Muscular Dystrophy, LMNA-related (Dominant);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516);Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Cardiomyopathy, dilated, 1A (115200);Cardiomyopathy, dilated, 1A;Lipodystrophy, familial partial, type 2 (151660);Emery-Dreifuss muscular dystrophy 2, AD, 181350;Mandibuloacral dysplasia (248370);Malouf syndrome (212112) 27532257;20186049 False 3 50;50;0 0.13 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAP2K1 gene MAP2K1 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardio-Facio-Cutaneous syndrome;CFC syndrome;syndromic HCM;?Noonan syndrome;LEOPARD syndrome;Cardiofaciocutaneous syndrome 3;Cardiofaciocutaneous Syndrome 23321623 (publication referring to Noonan syndrome association).;21396583 False 3 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 ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4;Cardio-Facio-Cutaneous syndrome;CFC syndrome;syndromic HCM;Cardio-Facio-Cutaneous syndrome type 4;Cardiofaciocutaneous Syndrome 21396583;23379592 False 3 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 ENSG00000126934 ENSG00000126934 HGNC:6842 MYBPC3 gene MYBPC3 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1MM;Left ventricular noncompaction 10,;Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396);Cardiomyopathy, hypertrophic, 4 (115197);Hypertrophic cardiomyopathy;Cardiomyopathy, familial hypertrophic, 4, 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1EE (613252);Cardiomyopathy, familial hypertrophic, 14;Atrial septal defect 3 (614089);{Sick sinus syndrome 3} (614090);Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, dilated, 1EE 27532257;15998695;22194935 False 3 0;50;50 0.13 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 1 (192600);Hypertrophic cardiomyopathy;Cardiomyopathy, familial hypertrophic, 1,;Myopathy, myosin storage, autosomal dominant (608358);Left ventricular noncompaction 5;Laing distal myopathy (160500);Left ventricular noncompaction 5 (613426);Cardiomyopathy, dilated, 1S;Cardiomyopathy, dilated, 1S (613426);Scapuloperoneal syndrome, myopathic type (181430);Myopathy, myosin storage, autosomal recessive (255160) 27532257;28369730;20186049 False 3 50;50;0 0.13 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 10;Cardiomyopathy, familial hypertrophic, 10 (608758) 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 8 (608751);Cardiomyopathy, familial hypertrophic, 8, 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000160808 ENSG00000160808 HGNC:7584 NEXN gene NEXN Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1CC;Cardiomyopathy, hypertrophic, 20 (613876);Cardiomyopathy, dilated, 1CC (613122);Cardiomyopathy, familial hypertrophic, 20, 20970104;27532257;28369730 False 3 50;50;0 0.13 False ENSG00000162614 ENSG00000162614 HGNC:29557 NRAS gene NRAS Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC Syndrome;Noonan syndrome;syndromic HCM;Noonan syndrome 6;Cardio-Facio-cutanenous syndrome 19775298;19966803 False 3 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 ENSG00000213281 ENSG00000213281 HGNC:7989 PKP2 gene PKP2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 (609040);Arrhythmogenic right ventricular dysplasia 9;Brugada syndrome;Arrhythmogenic right ventricular cardiomyopathy 27085656;27761167;16301704;27532257;19862833;30420954;23500315 False 3 50;50;0 0.13 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1P;Cardiomyopathy, familial hypertrophic, 18,;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;20186049 False 3 50;50;0 0.13 False ENSG00000198523 ENSG00000198523 HGNC:9080 PRKAG2 gene PRKAG2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic 6,;syndromic HCM;Wolff-Parkinson-White syndrome (194200);Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Glycogen storage disease of heart, lethal congenital (261740);Cardiomyopathy, familial hypertrophic 6 (600858) 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1;Noonan syndrome;syndromic HCM;Noonan syndrome 1;LEOPARD syndrome 18678287;16263833;15384080;11704759;17497712;17603483;15240615;12529711;12634870 False 3 0;100;0 0.13 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome 5;syndromic HCM;LEOPARD syndrome;LEOPARD syndrome 2 17603482;17603483 False 3 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 ENSG00000132155 ENSG00000132155 HGNC:9829 RBM20 gene RBM20 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1DD (613172);Cardiomyopathy, dilated, 1DD 27532257;20186049 False 3 50;50;0 0.13 False ENSG00000203867 ENSG00000203867 HGNC:27424 RYR2 gene RYR2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772;Catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome;catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772);Arrhythmogenic right ventricular dysplasia 2, 600996;CPVT;Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy 19121813;16301704;19862833;30420954;27761157 False 3 50;50;0 0.13 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A Expert Review Green;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown J wave syndrome;short QT;sudden death;Episodic pain syndrome, familial, 2 (615551) 27761167;16301704;19862833;30420954;24998131 False 3 0;0;100 0.13 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN5A gene SCN5A Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1E (601154);Brugada syndrome 1;Brugada syndrome 1 601144;Brugada syndrome 1 (601144);Ventricular fibrillation, familial, 1, 603829;Dilated cardiomyopathy;Ventricular fibrillation, familial, 1 (603829);Long QT syndrome;{Sudden infant death syndrome, susceptibility to} (272120);Long QT syndrome-3 (603830);Long QT syndrome-3;Paroxysmal Familial Ventricular Fibrillation;Heart block, nonprogressive (113900);Heart block, progressive, type IA (113900);Ventricular fibrillation, familial, 1,;Atrial fibrillation, familial, 10 (614022);Brugada syndrome;Cardiomyopathy, dilated, 1E;Arrhythmogenic right ventricular cardiomyopathy;Sick sinus syndrome 1 (608567) 20031634;27761167;16301704;20186049;27532257;30420954;19716085 False 3 50;50;0 0.13 False ENSG00000183873 ENSG00000183873 HGNC:10593 SDHA gene SDHA Expert Review Green;London South GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Paragangliomas 5, 614165;Cardiomyopathy, dilated, 1GG, 613642;Mitochondrial Respiratory Chain Complex II Deficiency;Leigh syndrome, 256000;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial respiratory chain complex II deficiency, 252011;Isolated complex II deficiency;Cardiomyopathy, dilated, 1GG 27604308 False 3 0;100;0 0.13 False ENSG00000073578 ENSG00000073578 HGNC:10680 SGCD gene SGCD Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287);Cardiomyopathy, dilated, 1L (606685) 27532257;19259135;20186049 False 3 0;50;50 0.13 False ENSG00000170624 ENSG00000170624 HGNC:10807 SHOC2 gene SHOC2 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM;Noonan-like syndrome with loose anagen hair 22528146;23918763;19684605 False 3 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 ENSG00000108061 ENSG00000108061 HGNC:15454 SLC25A4 gene SLC25A4 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283);Disorders of mitochondrial protein transport;Hypertrophic cardiomyopathy;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418);Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184);Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Disorders of mitochondrial DNA maintenance and integrity 27532257;25732997 False 3 0;50;50 0.13 False ENSG00000151729 ENSG00000151729 HGNC:10990 SOS1 gene SOS1 Expert Review Green;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4;syndromic HCM;Noonan syndrome 17586837;17143285;17143282;19438935 False 3 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 ENSG00000115904 ENSG00000115904 HGNC:11187 TAZ gene TAZ Expert Review Green;London South GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Disorders of mitochondrial lipid metabolism;Dilated Cardiomyopathy, X-Linked;Barth syndrome, 302060;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias);Left Ventricular Noncompaction Cardiomyopathy;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;100;0 0.13 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, hypertrophic, 25 (607487);Congenital muscular dystrophies;Cardiomyopathy, dilated, 1N;Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 27532257;15582318;20186049 False 3 0;50;50 0.13 False ENSG00000173991 ENSG00000173991 HGNC:11610 TMEM43 gene TMEM43 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD 614302;Emery-Dreifuss muscular dystrophy 7, AD (614302);Arrhythmogenic right ventricular dysplasia 5 (604400) 27532257;23812740 False 3 50;50;0 0.13 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 13,;Cardiomyopathy, dilated, 1Z;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, hypertrophic, 13 (613243) 27532257;28369730;20186049 False 3 50;50;0 0.13 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 7;Hypertrophic cardiomyopathy;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, dilated, 1FF;Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, dilated, 2A,;Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, hypertrophic, 7 (613690) 27532257;28369730;20186049 False 3 50;50;0 0.13 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial hypertrophic, 2;Hypertrophic cardiomyopathy;Cardiomyopathy, dilated, 1D (601494);Left ventricular noncompaction 6,;Cardiomyopathy, hypertrophic, 2 (115195);Left ventricular noncompaction 6 (601494);Cardiomyopathy, familial restrictive, 3 (612422) 27532257;28369730;20186049 False 3 50;50;0 0.13 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, dilated, 1Y;Cardiomyopathy, dilated, 1Y (611878);Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, hypertrophic, 3 (115196);Left ventricular noncompaction 9, 27532257;28369730;20186049 False 3 50;50;0 0.13 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441);catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness 26200674 False 3 50;50;0 0.13 False ENSG00000186439 ENSG00000186439 HGNC:12261 TTN gene TTN Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9,;Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9 (613765);Salih myopathy (611705);Myopathy, proximal, with early respiratory muscle involvement (603689);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, dilated, 1G (604145);Tibial muscular dystrophy, tardive (600334) 27532257;20186049 False 3 50;50;0 0.13 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Amber;Expert Review Green;London South GLH Sudden cardiac death - previous panel Unknown syndromic HCM False 3 0;100;0 0.13 False ENSG00000118271 ENSG00000118271 HGNC:12405 VCL gene VCL Expert Review Green;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 15,;Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, dilated, 1W;Cardiomyopathy, hypertrophic, 15 (613255) 27532257;28369730 False 3 50;50;0 0.13 False ENSG00000035403 ENSG00000035403 HGNC:12665 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 AKAP9 gene AKAP9 Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-11 (611820);?Long QT syndrome-11 611820;Long QT syndrome-11 25087618;19862833;16301704;30420954 False 1 0;50;50 0.13 False ENSG00000127914 ENSG00000127914 HGNC:379 ALMS1 gene ALMS1 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000116127 ENSG00000116127 HGNC:428 CALR3 gene CALR3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;100;0 0.13 False ENSG00000269058 ENSG00000269058 HGNC:20407 CAV3 gene CAV3 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic,;Brugada/Brugada like syndrome;Long QT syndrome-9 False 1 0;100;0 0.13 False ENSG00000182533 ENSG00000182533 HGNC:1529 DTNA gene DTNA Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 1, with or without congenital heart defects, False 1 0;100;0 0.13 False ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD Expert Review Red;London South GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 1 0;100;0 0.13 False ENSG00000102119 ENSG00000102119 HGNC:3331 GJA5 gene GJA5 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000143140 ENSG00000265107 HGNC:4279 GPD1L gene GPD1L Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2;Brugada syndrome 2 (611777) 19666841;27761167;16301704;19862833;30420954 False 1 0;50;50 0.13 False ENSG00000152642 ENSG00000152642 HGNC:28956 ILK gene ILK Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000166333 ENSG00000166333 HGNC:6040 KCNA5 gene KCNA5 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000130037 ENSG00000130037 HGNC:6224 KCND3 gene KCND3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown sudden unexplained death;arrhythmia;Brugada/Brugada like syndrome;sudden cardiac arrest 22457051 False 1 0;100;0 0.13 False ENSG00000171385 ENSG00000171385 HGNC:6239 KLF10 gene KLF10 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Hypertrophic cardiomyopathy False 1 0;100;0 0.13 False ENSG00000155090 ENSG00000155090 HGNC:11810 LAMA4 gene LAMA4 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000112769 ENSG00000112769 HGNC:6484 MIB1 gene MIB1 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Left ventricular noncompaction 7 False 1 0;100;0 0.13 False ENSG00000101752 ENSG00000101752 HGNC:21086 MYOZ2 gene MYOZ2 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 16, False 1 0;100;0 0.13 False ENSG00000172399 ENSG00000172399 HGNC:1330 NKX2-5 gene NKX2-5 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 1 0;100;0 0.13 False ENSG00000183072 ENSG00000183072 HGNC:2488 NPPA gene NPPA Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Dilated cardiomyopathy 26888179;23275345 False 1 0;100;0 0.13 False ENSG00000175206 ENSG00000175206 HGNC:7939 PDLIM3 gene PDLIM3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000154553 ENSG00000154553 HGNC:20767 PRDM16 gene PRDM16 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Left ventricular noncompaction 8;Cardiomyopathy, dilated, 1LL False 1 0;100;0 0.13 False ENSG00000142611 ENSG00000142611 HGNC:14000 RANGRF gene RANGRF Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Brugada/Brugada like syndrome False 1 0;100;0 0.13 False ENSG00000108961 ENSG00000108961 HGNC:17679 SCN3B gene SCN3B Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 7 27761167;16301704;23257389;19862833;30420954 False 1 0;50;50 0.13 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-10 17592081;19862833;16301704;30420954 False 1 0;50;50 0.13 False Other ENSG00000177098 ENSG00000177098 HGNC:10592 SGCB gene SGCB Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Dilated cardiomyopathy 26888179;23349452 False 1 0;100;0 0.13 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCG gene SGCG London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000102683 ENSG00000102683 HGNC:10809 TBX20 gene TBX20 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000164532 ENSG00000164532 HGNC:11598 TGFB3 gene TGFB3 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 1 False 1 0;100;0 0.13 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMPO gene TMPO Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant 16247757 False 1 0;50;50 0.13 False ENSG00000120802 ENSG00000120802 HGNC:11875 TXNRD2 gene TXNRD2 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000184470 ENSG00000184470 HGNC:18155