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 AARS2 gene AARS2 Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25058219;21549344 False 3 100;0;0 7.99 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCC9 gene ABCC9 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant;Cardiomyopathy, dilated, 1O 15034580 False 3 75;25;0 7.99 False ENSG00000069431 ENSG00000069431 HGNC:60 ACAD9 gene ACAD9 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 False 3 100;0;0 7.99 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADVL gene ACADVL Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);syndromic HCM;Liver disease, hepatomegaly, hypoketotic hypoglycaemia;Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form);DCM, mixed;HCM National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp;27604308;24285112;9973285 False 3 100;0;0 7.99 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021;Hypertrophic cardiomyopathy, MONDO:0005045;Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800;CMD with rigid spine;Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310 26888179;16945537;32969603;30354303;30195123;21570694 False 3 100;0;0 7.99 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic Cardiomyopathy;Cardiomyopathy, familial hypertrophic, 11;Cardiomyopathy, dilated, 1R;Left Ventricular Noncompaction Cardiomyopathy;Left ventricular noncompaction 4 False 3 100;0;0 7.99 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant False 3 100;0;0 7.99 False ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, 5, OMIM:617030;myopathy, distal, 5, MONDO:0014877;hypertrophic cardiomyopathy, MONDO:0005045 32646962;39472908;40302423 False 3 100;0;0 7.99 False ENSG00000185100 ENSG00000185100 HGNC:20093 AGK gene AGK Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350 False 3 100;0;0 7.99 False ENSG00000006530 ENSG00000006530 HGNC:21869 AIFM1 gene AIFM1 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, OMIM:300816;severe X-linked mitochondrial encephalomyopathy, MONDO:0010437 22019070;28967629;34117073;39472908 False 3 100;0;0 7.99 False ENSG00000156709 ENSG00000156709 HGNC:8768 ALMS1 gene ALMS1 Expert Review;Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal OMIM 203800 15689433 False 3 100;0;0 7.99 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPK3 gene ALPK3 Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, 618052 26846950;34263907;32480058 False 3 100;0;0 7.99 False ENSG00000136383 ENSG00000136383 HGNC:17574 ATAD3A gene ATAD3A Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Harel-Yoon syndrome, MONDO:0014958;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810;pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MONDO:0032931 27640307;28549128;31727539;32004445;33575671;37095554 False 3 100;0;0 7.99 False ENSG00000197785 ENSG00000197785 HGNC:25567 BAG3 gene BAG3 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH False 3 100;0;0 7.99 False ENSG00000151929 ENSG00000151929 HGNC:939 CACNA1C gene CACNA1C Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder False 3 100;0;0 7.99 False ENSG00000151067 ENSG00000151067 HGNC:1390 CAMK2D gene CAMK2D Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurodevelopmental disorder, MONDO:0700092;dilated cardiomyopathy, MONDO:0005021 38272033 False 3 100;0;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000145349 ENSG00000145349 HGNC:1462 CAP2 gene CAP2 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2I, OMIM:620462 30518548;33083013;34862840 False 3 100;0;0 7.99 False ENSG00000112186 ENSG00000112186 HGNC:20039 CASZ1 gene CASZ1 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy, MONDO:0005021;left ventricular noncompaction, MONDO:0018901 36293425;31268246;28099117;27693370;37509718 False 3 100;0;0 7.99 False ENSG00000130940 ENSG00000130940 HGNC:26002 CDH2 gene CDH2 Expert list;Expert Review Green Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 7.99 False ENSG00000170558 ENSG00000170558 HGNC:1759 COA5 gene COA5 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial complex IV deficiency, 220110;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);syndromic HCM;?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 27604308 False 3 50;50;0 7.99 False ENSG00000183513 ENSG00000183513 HGNC:33848 COA6 gene COA6 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 25959673;25339201;24549041;22277967 False 3 100;0;0 7.99 False ENSG00000168275 ENSG00000168275 HGNC:18025 COX10 gene COX10 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 3 100;0;0 7.99 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 False 3 100;0;0 7.99 False ENSG00000014919 ENSG00000014919 HGNC:2263 CPT2 gene CPT2 Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110 24816252;27604308 False 3 100;0;0 7.99 False ENSG00000157184 ENSG00000157184 HGNC:2330 CSRP3 gene CSRP3 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 12;Cardiomyopathy, dilated, 1M False 3 0;50;50 7.99 False ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1I, False 3 100;0;0 7.99 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 3 100;0;0 7.99 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJC19 gene DNAJC19 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 3 100;0;0 7.99 False ENSG00000205981 ENSG00000205981 HGNC:30528 DOLK gene DOLK Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 3 100;0;0 7.99 False ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair;Arrhythmogenic right ventricular dysplasia 11 False 3 100;0;0 7.99 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1BB,;Arrhythmogenic right ventricular dysplasia 10 False 3 100;0;0 7.99 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD);Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD) False 3 100;0;0 7.99 False ENSG00000096696 ENSG00000096696 HGNC:3052 DST gene DST Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952 40497796;35942699 False 3 100;0;0 7.99 False ENSG00000151914 ENSG00000151914 HGNC:1090 ELAC2 gene ELAC2 Expert Review;Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, OMIM:615440 23849775 False 3 100;0;0 7.99 False ENSG00000006744 ENSG00000006744 HGNC:14198 EMD gene EMD Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 3 50;0;50 7.99 False ENSG00000102119 ENSG00000102119 HGNC:3331 EPG5 gene EPG5 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;23838600;26917586;25331754;23674064;26395118;28624465 False 3 100;0;0 7.99 False ENSG00000152223 ENSG00000152223 HGNC:29331 FBXL4 gene FBXL4 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), OMIM:615471 23993193;23993194;25868664;26404457;28940506;38359748;39472908 False 3 100;0;0 7.99 False ENSG00000112234 ENSG00000112234 HGNC:13601 FHL1 gene FHL1 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females http://www.ncbi.nlm.nih.gov/pubmed/22523091 False 3 100;0;0 7.99 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert list;Expert Review Green Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy False 3 100;0;0 7.99 False ENSG00000134775 ENSG00000134775 HGNC:26178 FKRP gene FKRP Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal 15833432;18060779;19705481;32914449 False 3 50;50;0 7.99 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 50;50;0 7.99 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLII gene FLII Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2J, OMIM:620635 32870709;37561591 False 3 100;0;0 7.99 False ENSG00000177731 ENSG00000177731 HGNC:3750 FLNC gene FLNC Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 False 3 100;0;0 7.99 False ENSG00000128591 ENSG00000128591 HGNC:3756 GAA gene GAA Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hypotonia, muscle weakness, progressive respiratory failure;syndromic HCM;HCM, mixed;Glycogen storage disease II, 232300;Glycogen storage disease type II (Pompe disease) False 3 100;0;0 7.99 False ENSG00000171298 ENSG00000171298 HGNC:4065 GLA gene GLA Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, OMIM:301500;Fabry disease, cardiac variant, OMIM:301500;Fabry disease, MONDO:0010526 27604308;39472908;39620496;39995634 False 3 60;40;0 7.99 False ENSG00000102393 ENSG00000102393 HGNC:4296 GUSB gene GUSB Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis VII, 253220;MUCOPOLYSACCHARIDOSIS TYPE 7;syndromic HCM;Mucopolysaccharidosis Type VII;Mucopolysaccharidosis, Type VII 27604308 False 3 67;33;0 7.99 False ENSG00000169919 ENSG00000169919 HGNC:4696 HADHA gene HADHA Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD);Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;Mitochondrial Trifunctional Protein deficiency;HCM 27604308 False 3 100;0;0 7.99 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;London South GLH;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD);Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;Mitochondrial Trifunctional Protein deficiency;HCM 27604308 False 3 100;0;0 7.99 False ENSG00000138029 ENSG00000138029 HGNC:4803 HRAS gene HRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome;syndromic HCM 16170316;16443854;21396583;16969868 False 3 67;33;0 7.99 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 IDH2 gene IDH2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2;D-2-hydroxyglutaric aciduria 2, 613657 20847235;24049096 False 3 100;0;0 7.99 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDUA gene IDUA Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Mucopolysaccharidosis type 1H/S;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis Is, 607016;Hurler syndrome;Mucopolysaccharidosis Ih/s, 607015;Scheie syndrome;Mucopolysaccharidosis, Type I;Hurler-Scheie syndrome;Mucopolysaccharidosis Ih, 607014;Mucopolysaccharidosis type 1H 27604308 False 3 100;0;0 7.99 False ENSG00000127415 ENSG00000127415 HGNC:5391 JPH2 gene JPH2 Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 7.99 False ENSG00000149596 ENSG00000149596 HGNC:14202 JUP gene JUP Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 False 3 100;0;0 7.99 False ENSG00000173801 ENSG00000173801 HGNC:6207 KLHL24 gene KLHL24 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, OMIM:617294;epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, MONDO:0015006;Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236;cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 27889062;29779254;30120936;31649980;32870709;35975634;36672924;39472908 False 3 100;0;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000114796 ENSG00000114796 HGNC:25947 KRAS gene KRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 3;Noonan syndrome;CFC syndrome;Cardiofaciocutaneous syndrome 2 615278;Noonan syndrome 3 609942;Cardiofaciocutaneous syndrome 2;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome PMID: 21396583 False 3 67;33;0 7.99 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;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 27604308 False 3 100;0;0 7.99 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1C, with or without LVNC, OMIM:601493;dilated cardiomyopathy, MONDO:0005021 16427346;17097056;36253531 False 3 60;20;20 7.99 False ENSG00000122367 ENSG00000122367 HGNC:15710 LETM1 gene LETM1 Expert Review;Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214;33815143 False 3 100;0;0 7.99 False ENSG00000168924 ENSG00000168924 HGNC:6556 LMNA gene LMNA Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 2, AD, 181350;Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic;Congenital Muscular Dystrophy, LMNA-related (Dominant);Cardiomyopathy, dilated, 1A 15622532;18551513;15148145 False 3 100;0;0 7.99 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD2 gene LMOD2 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy, MONDO:0005021 35082396;35188328;34888509;31517052 False 3 100;0;0 7.99 False ENSG00000170807 ENSG00000170807 HGNC:6648 LZTR1 gene LZTR1 Expert List;Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 29469822;25795793 False 3 100;0;0 7.99 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC syndrome;?Noonan syndrome;syndromic HCM;LEOPARD syndrome;Cardiofaciocutaneous syndrome 3;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome PMID: 21396583;23321623 (publication referring to Noonan syndrome association). False 3 67;33;0 7.99 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 List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardio-Facio-Cutaneous syndrome type 4;CFC syndrome;Cardiofaciocutaneous syndrome 4 615280;Cardiofaciocutaneous syndrome 4;syndromic HCM;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome 23379592;21396583 False 3 67;33;0 7.99 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 MAP3K7 gene MAP3K7 Expert Review;Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiospondylocarpofacial syndrome, OMIM:157800 35730652;34687574;29467388;27426734 False 3 100;0;0 7.99 False ENSG00000135341 ENSG00000135341 HGNC:6859 MLYCD gene MLYCD Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism);malonic aciduria;Hypertrophic-hypocontractile cardiomyopathy;Malonyl-CoA decarboxylase deficiency;Mild clinical features. Developmental delay, epilepsy;Malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);HCM 27604308;7609455;9177981;12955715 False 3 100;0;0 7.99 False ENSG00000103150 ENSG00000103150 HGNC:7150 MRAS gene MRAS Expert list;Expert Review Green Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 11, OMIM:618499;Noonan syndrome 11, MONDO:0032786 28289718;31173466;31108500;31173466 False 3 100;0;0 7.99 False Other ENSG00000158186 ENSG00000158186 HGNC:7227 MRPL44 gene MRPL44 Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 3 100;0;0 7.99 False ENSG00000135900 ENSG00000135900 HGNC:16650 MTO1 gene MTO1 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, OMIM:614702;mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, MONDO:0013865 22608499;23929671;34547275;34990597;39472908 False 3 100;0;0 7.99 False ENSG00000135297 ENSG00000135297 HGNC:19261 MT-TI gene MT-TI Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 12767666;21945886;23332932;29481798;30025578 False 3 67;33;0 7.99 False ENSG00000210100 ENSG00000210100 HGNC:7488 MUT gene MUT Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Methylmalonic aciduria, mut(0) type 251000;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Methylmalonic aciduria;Methylmalonyl-CoA mutase deficiency (Organic acidurias);metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. 27604308 False 3 100;0;0 7.99 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC3 gene MYBPC3 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4,;Cardiomyopathy, dilated, 1MM;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10, False 3 100;0;0 7.99 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 3, OMIM:614089;Cardiomyopathy, dilated, 1EE OMIM:613252;Cardiomyopathy, hypertrophic, 14, OMIM:613251;{Sick sinus syndrome 3}, OMIM:614090 15735645;20656787;28991257 False 3 100;0;0 7.99 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647;Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Left ventricular noncompaction 5, OMIM:613426 False 3 100;0;0 7.99 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424;Cardiomyopathy, hypertrophic, 10, OMIM:608758 12404107;23365102;25611685;31127036;32453731;33731536 False 3 100;0;0 7.99 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8, False 3 100;0;0 7.99 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK3 gene MYLK3 Expert Review Green;Literature Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 29235529;31244672;32213617;32870709;30690923 False 3 0;100;0 7.99 False ENSG00000140795 ENSG00000140795 HGNC:29826 MYPN gene MYPN Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomypathy, familial hypertrophic, 22,;Cardiomyopathy, dilated, 1KK False 3 100;0;0 7.99 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYZAP gene MYZAP Expert Review Green;NHS GMS;Other Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Cardiomyopathy, dilated, 2K, OMIM:620894 34899865;35840178;38436102;20093627;24698889 False 3 50;0;50 7.99 False Other ENSG00000263155 ENSG00000263155 HGNC:43444 NAXD gene NAXD Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321;NAD(P)HX dehydratase deficiency, MONDO:0034121 30576410;32462209;39472908;39822994 False 3 100;0;0 7.99 False ENSG00000213995 ENSG00000213995 HGNC:25576 NDUFA11 gene NDUFA11 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 False 3 100;0;0 7.99 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA2 gene NDUFA2 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, 618235 False 3 100;0;0 7.99 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 False 3 100;0;0 7.99 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFB11 gene NDUFB11 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Mitochondrial complex I deficiency, nuclear type 30, 301021;Linear skin defects with multiple congenital anomalies 3, 300952 False 3 100;0;0 7.99 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFS2 gene NDUFS2 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 False 3 100;0;0 7.99 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS8 gene NDUFS8 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 100;0;0 7.99 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV2 gene NDUFV2 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 False 3 100;0;0 7.99 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEXN gene NEXN Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, 1CC, OMIM:613122;Cardiomyopathy, hypertrophic, 20, OMIM:613876 False 3 100;0;0 7.99 False ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert List;Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, OMIM:162200;Neurofibromatosis, familial spinal, OMIM:162210;Neurofibromatosis-Noonan syndrome, OMIM:601321;Watson syndrome, OMIM:193520;cardiomyopathy, MONDO:0004994 12707950;16380919;19845691;23278345;30919579;38654147;39472908 False 3 100;0;0 7.99 False ENSG00000196712 ENSG00000196712 HGNC:7765 NKX2-5 gene NKX2-5 Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 3 100;0;0 7.99 False ENSG00000183072 ENSG00000183072 HGNC:2488 NONO gene NONO Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 3 100;0;0 7.99 False ENSG00000147140 ENSG00000147140 HGNC:7871 NRAP gene NRAP Expert Review Green;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 Edit 30384889;33534821;28611399;https://doi.org/10.1101/2020.10.12.20211474;32870709 False 3 100;0;0 7.99 False ENSG00000197893 ENSG00000197893 HGNC:7988 NRAS gene NRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CFC Syndrome;Noonan syndrome;Noonan syndrome 6;Noonan syndrome 6 613224;syndromic HCM;Cardio-Facio-cutanenous syndrome 19775298;19966803 False 3 67;33;0 7.99 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 PCCA gene PCCA Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Propionicacidemia;Propionic aciduria;Propionicacidemia 606054;Propionic acidemia;Propionic aciduria (Organic acidurias);metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections 27604308 False 3 100;0;0 7.99 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);DCM;Hypertrophic-hypocontractile cardiomyopathy;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Propionicacidemia;Propionic aciduria;Propionicacidemia 606054;Propionic acidemia;Propionic aciduria (Organic acidurias) 27604308 False 3 100;0;0 7.99 False ENSG00000114054 ENSG00000114054 HGNC:8654 PKD2 gene PKD2 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, OMIM:613095;polycystic kidney disease 2, MONDO:0013131;dilated cardiomyopathy, MONDO:0005021 23376035;27081851;29270497;39472908 False 3 100;0;0 7.99 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKP2 gene PKP2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9 False 3 100;0;0 7.99 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P;Cardiomyopathy, familial hypertrophic, 18, False 3 100;0;0 7.99 False ENSG00000198523 ENSG00000198523 HGNC:9080 PPA2 gene PPA2 Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, alcohol-induced, 617223;Sudden cardiac failure, infantile, 617222 27523598 False 3 100;0;0 7.99 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPCS gene PPCS Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2C, 618189 False 3 100;0;0 7.99 False ENSG00000127125 ENSG00000127125 HGNC:25686 PPP1CB gene PPP1CB Expert List;Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rasopathy with developmental delay, short stature and sparse slow-growing hair;Noonan syndrome-like disorder with loose anagen hair 2, 617506 28211982;27264673;27681385 False 3 100;0;0 7.99 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R13L gene PPP1R13L Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519 15661756;28864777;19016676;28069640;25691752 False 3 100;0;0 7.99 False ENSG00000104881 ENSG00000104881 HGNC:18838 PRKAG2 gene PRKAG2 Expert Review Green;London South GLHSouth West GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Cardiomyopathy, familial hypertrophic 6,;syndromic HCM 194200 False 3 50;50;0 7.99 False ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1;LEOPARD syndrome 1 151100;LEOPARD syndrome 1;Noonan syndrome 1 163950;Noonan syndrome;syndromic HCM;LEOPARD syndrome 17603483;15384080;15240615;16263833;18678287;12529711;17497712;12634870;11704759 False 3 67;33;0 7.99 False Other - please provide details in the comments ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5;Noonan syndrome;Noonan syndrome 5 611553;LEOPARD syndrome 2 611554;syndromic HCM;LEOPARD syndrome;LEOPARD syndrome 2 17603483;17603482 False 3 100;0;0 7.99 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;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD False 3 100;0;0 7.99 False ENSG00000203867 ENSG00000203867 HGNC:27424 RIT1 gene RIT1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8;Noonan syndrome type 8;Noonan syndrome 8 615355 25124994;23791108;24939608 False 3 67;33;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143622 ENSG00000143622 HGNC:10023 RPL3L gene RPL3L Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2D, OMIM:619371 32514796;32870709;36291431;35323613;37308880;39803500;40820268 False 3 100;0;0 7.99 False ENSG00000140986 ENSG00000140986 HGNC:10351 RRAGC gene RRAGC Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long-Olsen syndrome, OMIM:620609 27234373;37057673 False 3 100;0;0 7.99 False ENSG00000116954 ENSG00000116954 HGNC:19902 RRAGD gene RRAGD Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 3 100;0;0 7.99 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 RYR2 gene RYR2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2, 600996;Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy http://www.ncbi.nlm.nih.gov/books/NBK1131/ False 3 100;0;0 7.99 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy;Long QT syndrome;Brugada syndrome;Cardiomyopathy, dilated, 1E;Arrhythmogenic right ventricular cardiomyopathy 24317018;26888179;35701104 False 3 100;0;0 7.99 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO1 gene SCO1 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 False 3 100;0;0 7.99 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Isolated complex IV deficiency;Mitochondrial Diseases;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);syndromic HCM;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908;Mitochondrial Respiratory Chain Complex IV Deficiency 27604308 False 3 75;25;0 7.99 False ENSG00000130489 ENSG00000130489 HGNC:10604 SGCG gene SGCG Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700;autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677 10942431;11053682;14991064;24464767;39472908 False 3 100;0;0 7.99 False ENSG00000102683 ENSG00000102683 HGNC:10809 SHOC2 gene SHOC2 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair;syndromic HCM 19684605;22528146;23918763 False 3 67;0;33 7.99 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 SLC22A5 gene SLC22A5 Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 7432384;24816252;27604308 False 3 100;0;0 7.99 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 Expert Review Green;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia;Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitines translocase deficiency CAT;HCM, DCM;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308 False 3 67;33;0 7.99 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A4 gene SLC25A4 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418;Disorders of mitochondrial protein transport;Hypertrophic cardiomyopathy;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 50;50;0 7.99 False ENSG00000151729 ENSG00000151729 HGNC:10990 SOS1 gene SOS1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 4 610733;syndromic HCM;Noonan syndrome;Noonan syndrome 4 19438935;17143285;17143282;17586837 False 3 67;33;0 7.99 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 SOS2 gene SOS2 Expert List;Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559;Noonan syndrome 9 26173643;25795793 False 3 100;0;0 7.99 False Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SPEG gene SPEG Expert Review Green;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Centronuclear myopathy 5, OMIM:615959 32925938;33794647;33926407 False 3 100;0;0 7.99 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPRED2 gene SPRED2 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt 34626534 False 3 100;0;0 7.99 False ENSG00000198369 ENSG00000198369 HGNC:17722 TAB2 gene TAB2 Expert Review Green;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 28464518;29700987;32183715;34456334;34990405;34741306;36000780;37153890 False 3 50;25;25 7.99 False ENSG00000055208 ENSG00000055208 HGNC:17075 TAF1A gene TAF1A Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Paediatric dilated cardiomyopathy 27878435;37501913;28472305;29367541 False 3 67;0;33 7.99 False ENSG00000143498 ENSG00000143498 HGNC:11532 TANGO2 gene TANGO2 Expert Review Green;Literature;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878;recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, MONDO:0018820 26805781;30245509;31339582;32527145;35568137;39472908;40156300 False 3 100;0;0 7.99 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAZ gene TAZ Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial lipid metabolism;Dilated Cardiomyopathy, X-Linked;Neutropenia, muscle weakness, growth retardation;Non-compaction cardiomyopathy;Barth syndrome, 302060;Left Ventricular Noncompaction Cardiomyopathy;HCM, mixed;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias) 27604308 False 3 100;0;0 7.99 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBX20 gene TBX20 Expert Review Green;NHS GMS;Other Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 4, OMIM:611363;Cardiomyopathy, dilated with or without LVNC;Atrial septal defect, congential heart disease 33585493;27510170;28798025;32600061;22080862;17668378;30384889;35282022 False 3 100;0;0 7.99 False ENSG00000164532 ENSG00000164532 HGNC:11598 TMEM43 gene TMEM43 Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD 614302 False 3 50;0;50 7.99 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM70 gene TMEM70 Expert Review Green;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 False 3 100;0;0 7.99 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNNC1 gene TNNC1 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z;Cardiomyopathy, familial hypertrophic, 13, False 3 100;0;0 7.99 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy;Cardiomyopathy, familial hypertrophic, 7;Cardiomyopathy, dilated, 1FF;Cardiomyopathy, dilated, 2A, False 3 100;0;0 7.99 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy 616117 False 3 100;0;0 7.99 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial hypertrophic, 2;Hypertrophic cardiomyopathy;Left ventricular noncompaction 6, False 3 100;0;0 7.99 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y;Left ventricular noncompaction 9, False 3 100;0;0 7.99 False ENSG00000140416 ENSG00000140416 HGNC:12010 TSFM gene TSFM Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 3 610505 27604308 False 3 50;50;0 7.99 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9,;Cardiomyopathy, dilated, 1G http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 3 100;0;0 7.99 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM 30878017;31131842;31118583;31111153;30120737 False 3 50;0;50 7.99 False ENSG00000118271 ENSG00000118271 HGNC:12405 VCL gene VCL Expert Review Green;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 15,;Cardiomyopathy, dilated, 1W False 3 100;0;0 7.99 False ENSG00000035403 ENSG00000035403 HGNC:12665