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 Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) Cardiomyopathy;HP:0001638 25058219;21549344 False 3 0;0;0 0.231 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABCC9 gene ABCC9 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850;Cardiomyopathy, dilated, 1O;Dilated Cardiomyopathy, Dominant Cardiomyopathy;HP:0001638 15034580;27532257;28991257;36129056;31575858;15034580 False 3 50;50;0 0.231 True ENSG00000069431 ENSG00000069431 HGNC:60 ACAD9 gene ACAD9 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADVL gene ACADVL Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Liver disease, hepatomegaly, hypoketotic hypoglycaemia;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) (severe form);DCM, mixed;syndromic HCM;VLCAD deficiency;HCM Cardiomyopathy;HP:0001638 27604308;24285112;9973285;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 False 3 0;0;0 0.231 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;Nemaline myopathy 3, autosomal dominant or recessive 161800;Dilated cardiomyopathy;Myopathy, congenital, with fiber-type disproportion 1 255310;CMD with rigid spine Cardiomyopathy;HP:0001638 doi:10. 1007/ s12265-016-9673-5;16945537 False 3 0;0;0 0.231 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1R;Left ventricular noncompaction 4;Left Ventricular Noncompaction Cardiomyopathy;Hypertrophic Cardiomyopathy;Cardiomyopathy, familial hypertrophic, 11 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant;ACTN2-related cardiac and skeletal myopathy, MONDO:0700349 Cardiomyopathy;HP:0001638 False 3 50;50;0 0.231 False ENSG00000077522 ENSG00000077522 HGNC:164 AGK gene AGK Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sengers syndrome, 212350 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease Type III;Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases;HCM;Glycogen storage disease type IIIa (debrancher enzyme deficiency);myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;syndromic HCM;Glycogen storage disease type III, Cori (Glycogen storage disorders);Hypertrophic-hypocontractile cardiomyopathy;Glycogen storage disease IIIa, 232400;Glycogen Storage Disease;Glycogen storage disease IIIb, 232400 Cardiomyopathy;HP:0001638 27604308;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 False 3 0;0;0 0.231 False ENSG00000162688 ENSG00000162688 HGNC:321 ALMS1 gene ALMS1 Expert Review;Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, MONDO:0004994 Cardiomyopathy;HP:0001638 15689433 False 3 100;0;0 0.231 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPK3 gene ALPK3 Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, 618052 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000136383 ENSG00000136383 HGNC:17574 ARSB gene ARSB Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease);Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;Mucopolysaccharidosis Type VI;Mucopolysaccharidosis, Type VI;MUCOPOLYSACCHARIDOSIS TYPE 6 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000113273 ENSG00000113273 HGNC:714 ATAD3A gene ATAD3A Expert Review;Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810;perinatal cardiomyopathy;cataracts;corneal clouding Cardiomyopathy;HP:0001638 32004445;27640307 False 3 100;0;0 0.231 True ENSG00000197785 ENSG00000197785 HGNC:25567 ATP5D gene ATP5D Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 Cardiomyopathy;HP:0001638 29478781 False 3 0;0;0 0.231 False ENSG00000099624 ENSG00000099624 HGNC:837 BAG3 gene BAG3 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000151929 ENSG00000151929 HGNC:939 BRAF gene BRAF Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 7 613706;Cardiofaciocutaneous syndrome 115150;syndromic HCM Cardiomyopathy;HP:0001638 19206169;21396583 False 3 0;0;0 0.231 True 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 C1QBP gene C1QBP Expert list;Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713 Cardiomyopathy;HP:0001638 28942965 False 3 100;0;0 0.231 False ENSG00000108561 ENSG00000108561 HGNC:1243 CACNA1C gene CACNA1C Expert list;Expert Review Amber;Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy;HP:0001638 False 3 0;100;0 0.231 False ENSG00000151067 ENSG00000151067 HGNC:1390 CAMK2D gene CAMK2D Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Cardiomyopathy;HP:0001638 38272033 False 3 100;0;0 0.231 True ENSG00000145349 ENSG00000145349 HGNC:1462 CAP2 gene CAP2 Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2I (MIM#620462) Cardiomyopathy;HP:0001638 PMID: 30518548;33083013;34862840 False 3 100;0;0 0.231 True ENSG00000112186 ENSG00000112186 HGNC:20039 CASZ1 gene CASZ1 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021, CASZ1-related;left ventricular non compaction Cardiomyopathy;HP:0001638 PMID: 28099117;36293425;31268246 False 3 100;0;0 0.231 True ENSG00000130940 ENSG00000130940 HGNC:26002 CBL gene CBL Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Cardiomyopathy;HP:0001638 19571318;20543203;20619386 False 3 0;0;0 0.231 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 COA6 gene COA6 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 616501 Cardiomyopathy;HP:0001638 25339201;22277967;25959673;24549041 False 3 0;0;0 0.231 False ENSG00000168275 ENSG00000168275 HGNC:18025 COQ4 gene COQ4 Expert Review;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Cardiomyopathy;HP:0001638 25658047;26185144;33704555 False 3 100;0;0 0.231 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ9 gene COQ9 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, MIM# 614654;dev delay;hypothermia;seizures, cardiomyopathy;left ventricular noncompaction;truncal hypotonia;peripheral hypotonia;brain MRI abnormalities;microcephaly Cardiomyopathy;HP:0001638 31821167;19375058;29560582 False 3 100;0;0 0.231 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to cytochrome c oxidase deficiency, 256000;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000203667 ENSG00000203667 HGNC:26970 CPT2 gene CPT2 Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia;Carnitine palmitoyltransferase II (CPT2) deficiency (neonatal & infantile forms);CPT II deficiency, lethal neonatal 608836;CPT deficiency, hepatic, type II 600649;HCM, mixed;DCM;Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) Cardiomyopathy;HP:0001638 24816252;27604308 False 3 0;0;0 0.231 False ENSG00000157184 ENSG00000157184 HGNC:2330 CSRP3 gene CSRP3 Expert Review Green;NHS GMS;South West GLH;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1M;Cardiomyopathy, familial hypertrophic, 12 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1I, Cardiomyopathy;HP:0001638 False 3 0;0;100 0.231 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders 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;Cardiomyopathy, dilated, 3B;Dilated Cardiomyopathy, X-Linked;Becker muscular dystrophy, 300376 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJC19 gene DNAJC19 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;dilated cardiomyopathy with ataxia syndrome;3-methylglutaconic aciduria, type V Cardiomyopathy;HP:0001638 16055927;22797137;27928778;27604308;27426421 False 3 0;0;0 0.231 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNM1L gene DNM1L Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 True ENSG00000087470 ENSG00000087470 HGNC:2973 DOLK gene DOLK Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 Cardiomyopathy;HP:0001638 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 0.231 True ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;NHS GMS;South West GLH;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 10;Cardiomyopathy, dilated, 1BB, Cardiomyopathy;HP:0001638 39253717;30454721;33917638;33831308 False 3 100;0;0 0.231 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8;Dilated cardiomyopathy with woolly hair and keratoderma Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000096696 ENSG00000096696 HGNC:3052 ELAC2 gene ELAC2 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM# 615440;cardiomyopathy;hypotonia;growth failure;dev delay;microcephaly;sensorineural deafness;brain MRI abnormalities Cardiomyopathy;HP:0001638 PMID: 23849775: PMID: 28441660 False 3 100;0;0 0.231 True ENSG00000006744 ENSG00000006744 HGNC:14198 EMD gene EMD Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders 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 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000102119 ENSG00000102119 HGNC:3331 EPG5 gene EPG5 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM Cardiomyopathy;HP:0001638 23838600;23674064;26395118;26917586;23222957;25331754;28624465 False 3 0;0;0 0.231 False ENSG00000152223 ENSG00000152223 HGNC:29331 FAH gene FAH Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal HCM;Tyrosinaemia type 1 (fumarylactoacetase deficiency);Liver failure, vomiting, renal tubulopathy;Tyrosinemia, type I Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000103876 ENSG00000103876 HGNC:3579 FARS2 gene FARS2 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency MIM#614946 Cardiomyopathy;HP:0001638 33168986;38362779;41588148;34690748 False 3 100;0;0 0.231 True ENSG00000145982 ENSG00000145982 HGNC:21062 FHL1 gene FHL1 Expert list;Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cardiomyopathy;HP:0001638 http://www.ncbi.nlm.nih.gov/pubmed/22523091 False 3 100;0;0 0.231 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert list;Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Cardiomyopathy;HP:0001638 32335906;31742804;30442288 False 3 100;0;0 0.231 True ENSG00000134775 ENSG00000134775 HGNC:26178 FKTN gene FKTN Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type;Dilated Cardiomyopathy, Recessive;Fukuyama Congenital Muscular Dystrophy;Fukuyama congenital muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Cardiomyopathy, dilated, 1X;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLII gene FLII Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2J, MIM# 620635 Cardiomyopathy;HP:0001638 32870709;11971982;32980309 False 3 100;0;0 0.231 True ENSG00000177731 ENSG00000177731 HGNC:3750 FLNC gene FLNC Expert Review;Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000128591 ENSG00000128591 HGNC:3756 FNIP1 gene FNIP1 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Cardiomyopathy;HP:0001638 32181500;32905580 False 3 100;0;0 0.231 True ENSG00000217128 ENSG00000217128 HGNC:29418 GAA gene GAA Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal HCM, mixed;Glycogen storage disease II, 232300;syndromic HCM;Hypotonia, muscle weakness, progressive respiratory failure;Glycogen storage disease type II (Pompe disease) Cardiomyopathy;HP:0001638 False 3 0;0;100 0.231 False ENSG00000171298 ENSG00000171298 HGNC:4065 GLB1 gene GLB1 Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IVB;MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);Mucopolysaccharidosis, Type IV;GM1-gangliosidosis, type III, 230650;GM1-gangliosidosis (Sphingolipidoses);GM1-gangliosidosis, type II, 230600;syndromic HCM;GM1-gangliosidosis, type I, 230500;Mucopolysaccharidosis type IVB (Morquio), 253010 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000170266 ENSG00000170266 HGNC:4298 GTPBP3 gene GTPBP3 Expert Review;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23 MIM#616198 Cardiomyopathy;HP:0001638 34276756;25434004 False 3 100;0;0 0.231 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUSB gene GUSB Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, 253220;Mucopolysaccharidosis, Type VII;syndromic HCM;MUCOPOLYSACCHARIDOSIS TYPE 7;Mucopolysaccharidosis Type VII;MPS VII, Sly disease (MPS IV, Morquio disease) Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000169919 ENSG00000169919 HGNC:4696 HADHA gene HADHA Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Mitochondrial Trifunctional Protein deficiency;Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;HCM;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;London South GLH;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015;Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Mitochondrial Trifunctional Protein deficiency;Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism;HCM;Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000138029 ENSG00000138029 HGNC:4803 HCN4 gene HCN4 Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000138622 ENSG00000138622 HGNC:16882 HRAS gene HRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome;syndromic HCM Cardiomyopathy;HP:0001638 16170316;16969868;16443854;21396583 False 3 0;0;0 0.231 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 HSD17B10 gene HSD17B10 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, MIM# 300438;intellectual disability;regression;seizures;cardiomyopathy (dilated or hypertrophic);choreoathetosis;optic atrophy;retinal degeneration Cardiomyopathy;HP:0001638 22127393;20077426 False 3 100;0;0 0.231 True ENSG00000072506 ENSG00000072506 HGNC:4800 IDH2 gene IDH2 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted D-2-hydroxyglutaric aciduria 2, 613657;Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2 Cardiomyopathy;HP:0001638 24049096;20847235 False 3 0;0;0 0.231 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDS gene IDS Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females MPS II, Hunter disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 2;Mucopolysaccharidosis Type II;Mucopolysaccharidosis II, 309900 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Scheie syndrome;Hurler-Scheie syndrome;Mucopolysaccharidosis type 1H;Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis Ih, 607014;Mucopolysaccharidosis type 1S;Hurler syndrome;MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Mucopolysaccharidosis, Type I;Mucopolysaccharidosis type 1H/S;Mucopolysaccharidosis Is, 607016 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000127415 ENSG00000127415 HGNC:5391 JUP gene JUP Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12, MIM# 611528;Naxos disease, MIM# 601214 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 True ENSG00000173801 ENSG00000173801 HGNC:6207 KRAS gene KRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 2, MIM# 615278;Noonan syndrome 3, MIM# 609942 Cardiomyopathy;HP:0001638 PMID: 21396583 False 3 0;0;0 0.231 True 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;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease;syndromic HCM Cardiomyopathy;HP:0001638 27604308 False 3 50;0;50 0.231 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493;Cardiomyopathy, dilated, 2L, MIM# 621237 Cardiomyopathy;HP:0001638 36253531 False 3 100;0;0 0.231 True ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1A;Emery-Dreifuss muscular dystrophy 2, AD, 181350;Congenital Muscular Dystrophy, LMNA-related (Dominant);Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy;HP:0001638 15148145;18551513;15622532 False 3 0;0;0 0.231 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD2 gene LMOD2 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638 31517052;34888509;5082396;35188328;26487682 False 3 100;0;0 0.231 True ENSG00000170807 ENSG00000170807 HGNC:6648 LRPPRC gene LRPPRC Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 Cardiomyopathy;HP:0001638 12529507;24399447;22045337;26510951 False 3 0;0;0 0.231 False ENSG00000138095 ENSG00000138095 HGNC:15714 LZTR1 gene LZTR1 Expert List;Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Schwannomatosis-2, susceptibility to 615670;Noonan syndrome 10 616564 Cardiomyopathy;HP:0001638 25795793;29469822 False 3 0;0;0 0.231 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Noonan syndrome;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;Cardiofaciocutaneous syndrome 3;syndromic HCM;CFC syndrome;LEOPARD syndrome Cardiomyopathy;HP:0001638 23321623 (publication referring to Noonan syndrome association).;PMID: 21396583 False 3 0;0;0 0.231 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 Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4 615280;Cardio-Facio-Cutaneous syndrome type 4;Cardiofaciocutaneous Syndrome;Cardio-Facio-Cutaneous syndrome;Cardiofaciocutaneous syndrome 4;syndromic HCM;CFC syndrome Cardiomyopathy;HP:0001638 23379592;21396583 False 3 0;0;0 0.231 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 MIPEP gene MIPEP Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, MIM# 617228;cardiomyopathy;left ventricular noncompaction;seizures;hypotonia;dev delay;cataracts Cardiomyopathy;HP:0001638 PMID: 27799064 False 3 100;0;0 0.231 True ENSG00000027001 ENSG00000027001 HGNC:7104 MLYCD gene MLYCD Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal malonic aciduria;3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism);Malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);Mild clinical features. Developmental delay, epilepsy;Malonyl-CoA decarboxylase deficiency;HCM;Hypertrophic-hypocontractile cardiomyopathy Cardiomyopathy;HP:0001638 27604308;12955715;7609455;9177981 False 3 0;0;0 0.231 False ENSG00000103150 ENSG00000103150 HGNC:7150 MRAS gene MRAS Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome, MIM#618499 Cardiomyopathy;HP:0001638 28289718;31173466;31108500;31173466 False 3 100;0;0 0.231 True ENSG00000158186 ENSG00000158186 HGNC:7227 MRPL44 gene MRPL44 Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 16, 615395 Cardiomyopathy;HP:0001638 23315540;25797485 False 3 100;0;0 0.231 True ENSG00000135900 ENSG00000135900 HGNC:16650 MRPS22 gene MRPS22 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5 , MIM#611719;hypertrophic or dilated cardiomyopathy;microcephaly;hypotonia;spastic tetraplegia;abnormal brain MRI Cardiomyopathy;HP:0001638 17873122;28752220;21189481 False 3 100;0;0 0.231 True ENSG00000175110 ENSG00000175110 HGNC:14508 MT-TG gene MT-TG Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TG-related Cardiomyopathy;HP:0001638 8079988;9199564;11971101;16120360;32337339;35432167;10090480 False 3 100;0;0 0.231 True ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TR gene MT-TR Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL mitochondrial disease (MONDO:0044970), MT-TR-related Cardiomyopathy;HP:0001638 15286228;17588757;19809478;22781096 False 3 100;0;0 0.231 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS2 gene MT-TS2 Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TS2-related Cardiomyopathy;HP:0001638 9792552;10090882;16950817;21257182;22369973;22378285 False 3 100;0;0 0.231 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TV-related Cardiomyopathy;HP:0001638 9450773;12056939;19252805;15320572;18314141;24691472;39468830 False 3 100;0;0 0.231 True ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert list;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TW-related Cardiomyopathy;HP:0001638 7695240;9266739;9673981;12776230;15054399;18337306;19809478;26524491;23841600;30937556 False 3 100;0;0 0.231 True ENSG00000210117 ENSG00000210117 HGNC:7501 MUT gene MUT Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Methylmalonic aciduria;Methylmalonic aciduria, mut(0) type 251000;DCM;Methylmalonyl-CoA mutase deficiency (Organic acidurias);Hypertrophic-hypocontractile cardiomyopathy;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC3 gene MYBPC3 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4,;Left ventricular noncompaction 10,;Cardiomyopathy, dilated, 1MM;Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Left ventricular noncompaction 5;Cardiomyopathy, familial hypertrophic, 1,;Hypertrophic cardiomyopathy;Cardiomyopathy, dilated, 1S Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424;Cardiomyopathy, hypertrophic, 10, MIM# 608758 Cardiomyopathy;HP:0001638 23365102;27378946;32453731;33731536 False 3 100;0;0 0.231 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8, Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000160808 ENSG00000160808 HGNC:7584 NDUFA1 gene NDUFA1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders 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 12, 301020 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA2 gene NDUFA2 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, 618235 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFAF1 gene NDUFAF1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF5 gene NDUFAF5 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 616238 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFB11 gene NDUFB11 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 3, 300952;?Mitochondrial complex I deficiency, nuclear type 30, 301021 Cardiomyopathy;HP:0001638 28050600;27488349;30423443;27488349 False 3 100;0;0 0.231 True ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, 618246 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFS1 gene NDUFS1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, 618226 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEXN gene NEXN Expert Review Green;London South GLH;NHS GMS;South West GLH;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261;Cardiomyopathy, familial hypertrophic, 20,;Cardiomyopathy, dilated, 1CC Cardiomyopathy;HP:0001638 False 3 0;0;100 0.231 True ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 Expert List;Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1 162200;Neurofibromatosis Noonan syndrome;Neurofibromatosis syndrome 1;Neurofibromatosis-Noonan syndrome 601321;Neurofibromatosis-Noonan Syndrome;Noonan syndrome Cardiomyopathy;HP:0001638 16380919;19845691;12707950 False 3 0;0;0 0.231 False ENSG00000196712 ENSG00000196712 HGNC:7765 NKX2-5 gene NKX2-5 Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000183072 ENSG00000183072 HGNC:2488 NONO gene NONO Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000147140 ENSG00000147140 HGNC:7871 NRAP gene NRAP Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy Cardiomyopathy;HP:0001638 33534821;30384889;28611399;32870709 False 3 100;0;0 0.231 True ENSG00000197893 ENSG00000197893 HGNC:7988 NRAS gene NRAS Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 6 613224;CFC Syndrome;Cardio-Facio-cutanenous syndrome;syndromic HCM;Noonan syndrome 6;Noonan syndrome Cardiomyopathy;HP:0001638 19775298;19966803 False 3 0;0;0 0.231 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 NUBPL gene NUBPL Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000151413 ENSG00000151413 HGNC:20278 PCCA gene PCCA Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections;Propionic acidemia;Propionicacidemia 606054;Propionic aciduria;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;DCM;Propionic aciduria (Organic acidurias);Hypertrophic-hypocontractile cardiomyopathy;Propionicacidemia Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionic acidemia;Propionicacidemia 606054;Propionic aciduria;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;DCM;Propionic aciduria (Organic acidurias);Hypertrophic-hypocontractile cardiomyopathy;Propionicacidemia Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000114054 ENSG00000114054 HGNC:8654 PGM1 gene PGM1 Expert Review;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type It, MIM# 614921;Dilated cardiomyopathy" Cardiomyopathy;HP:0001638 31563034;26303607;24878975;27206562;29858906;32681750 False 3 100;0;0 0.231 True ENSG00000079739 ENSG00000079739 HGNC:8905 PKP2 gene PKP2 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021, PKP2-related;Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 True ENSG00000057294 ENSG00000057294 HGNC:9024 PLD1 gene PLD1 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiac valvular defect, developmental, MIM# 212093;neonatal cardiomyopathy Cardiomyopathy;HP:0001638 27799408;33645542 False 3 100;0;0 0.231 True ENSG00000075651 ENSG00000075651 HGNC:9067 PLN gene PLN Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 18,;Cardiomyopathy, dilated, 1P Cardiomyopathy;HP:0001638 False 3 0;100;0 0.231 False ENSG00000198523 ENSG00000198523 HGNC:9080 PMM2 gene PMM2 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, MIM# 212065;hypotonia;intellectual disability;cerebellar signs;pericarditis;cardiomyopathy;cardiac malformation;chronic diarrhoea;protein-losing enteropathy;ascites;cover failure;nephrotic syndrome;hydros Cardiomyopathy;HP:0001638 28954837;33388235 False 3 50;0;50 0.231 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNPLA2 gene PNPLA2 Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal DCM;Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes;Neutral lipid storage disease with myopathy NLSDM Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000177666 ENSG00000177666 HGNC:30802 PPA2 gene PPA2 Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, alcohol-induced, 617223;Sudden cardiac failure, infantile, 617222 Cardiomyopathy;HP:0001638 27523598;34400813 False 3 100;0;0 0.231 True ENSG00000138777 ENSG00000138777 HGNC:28883 PPCS gene PPCS Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2C, 618189 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 True ENSG00000127125 ENSG00000127125 HGNC:25686 PPP1CB gene PPP1CB Expert List;Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders 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 Cardiomyopathy;HP:0001638 27264673;28211982;27681385 False 3 0;0;0 0.231 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R13L gene PPP1R13L Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Cardiomyopathy;HP:0001638 25691752;19016676;28069640;15661756;28864777;32666529 False 3 100;0;0 0.231 True ENSG00000104881 ENSG00000104881 HGNC:18838 PRDM16 gene PRDM16 Expert Review;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1LL MIM#615373;Left ventricular noncompaction 8 MIM#615373 Cardiomyopathy;HP:0001638 29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411 False 3 100;0;0 0.231 True ENSG00000142611 ENSG00000142611 HGNC:14000 PRKAG2 gene PRKAG2 Expert Review Green;London South GLHSouth West GLH;NHS GMS;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic 6, MIM# 600858;Glycogen storage disease of heart, lethal congenital, MIM# 261740 Cardiomyopathy;HP:0001638 37013823;15877279;17667862;32646569;30681346 False 3 50;0;50 0.231 True ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LEOPARD syndrome 1;Noonan syndrome 1 163950;LEOPARD syndrome 1 151100;syndromic HCM;Noonan syndrome 1;LEOPARD syndrome;Noonan syndrome Cardiomyopathy;HP:0001638 16263833;12634870;18678287;15384080;15240615;11704759;17603483;17497712;12529711 False 3 0;0;100 0.231 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 Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1NN, MIM# 615916;Noonan syndrome 5, MIM# 611553 Cardiomyopathy;HP:0001638 17603482;17603483;24777450 False 3 50;0;50 0.231 True 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 RBCK1 gene RBCK1 Expert Review Green;Other Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy;HP:0001638 7971833;23889995;23798481 False 3 100;0;0 0.231 True ENSG00000125826 ENSG00000125826 HGNC:15864 RBM20 gene RBM20 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000203867 ENSG00000203867 HGNC:27424 RIT1 gene RIT1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 8;Noonan syndrome type 8;Noonan syndrome 8 615355 Cardiomyopathy;HP:0001638 23791108;24939608;25124994 False 3 0;0;0 0.231 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 RNF220 gene RNF220 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688;Leukodystrophy;CNS hypomyelination;Ataxia;Intellectual disability;Sensorineural hearing impairment;Elevated hepatic transaminases;Hepatic fibrosis;Dilated cardiomyopathy;Spastic paraplegia;Dysarthria;Abnormality of the corpus callosum Cardiomyopathy;HP:0001638 33964137;10881263 False 3 100;0;0 0.231 True ENSG00000187147 ENSG00000187147 HGNC:25552 RPL3L gene RPL3L Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2D, MIM# 619371;Neonatal dilated cardiomyopathy Cardiomyopathy;HP:0001638 32514796;32870709 False 3 100;0;0 0.231 True ENSG00000140986 ENSG00000140986 HGNC:10351 RRAGC gene RRAGC Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long-Olsen syndrome, MIM# 620609 Cardiomyopathy;HP:0001638 PMID: 29367541;27234373;33057194;37057673 False 3 33;33;33 0.231 True Other ENSG00000116954 ENSG00000116954 HGNC:19902 RRAGD gene RRAGD Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited renal tubular disease, MONDO:0015962, RRAGD-related;dilated cardiomyopathy;hypomagnesaemia;renal salt-wasting;nephrocalcinosis Cardiomyopathy;HP:0001638 34607910 False 3 100;0;0 0.231 True ENSG00000025039 ENSG00000025039 HGNC:19903 RYR2 gene RYR2 Expert Review Green;Expert Review Red;Literature;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy;Arrhythmogenic right ventricular dysplasia 2, 600996 Cardiomyopathy;HP:0001638 http://www.ncbi.nlm.nih.gov/books/NBK1131/ False 3 0;100;0 0.231 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Brugada syndrome;Cardiomyopathy, dilated, 1E;Long QT syndrome Cardiomyopathy;HP:0001638 doi:10. 1007/ s12265-016-9673-5;24317018 False 3 0;0;0 0.231 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO2 gene SCO2 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Myopia 6, 608908;Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;syndromic HCM;Isolated complex IV deficiency;Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1GG;Leigh syndrome, 256000;Mitochondrial respiratory chain complex II deficiency, 252011;Mitochondrial Respiratory Chain Complex II Deficiency;Paragangliomas 5, 614165;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Cardiomyopathy, dilated, 1GG, 613642 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy;HP:0001638 19465911;26642834;22995659 False 3 0;0;0 0.231 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHD gene SDHD Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 Cardiomyopathy;HP:0001638 26008905;24367056 False 3 0;0;0 0.231 False ENSG00000204370 ENSG00000204370 HGNC:10683 SGCD gene SGCD Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1L, 606685 Cardiomyopathy;HP:0001638 10735275;18779423;23900355 False 3 0;0;0 0.231 False ENSG00000170624 ENSG00000170624 HGNC:10807 SHMT2 gene SHMT2 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121;Congenital microcephaly;Infantile axial hypotonia;Spastic paraparesis;Global developmental delay;Intellectual disability;Abnormality of the corpus callosum;Abnormal cortical gyration;Hypertrophic cardiomyopathy;Abnormality of the face;Proximal placement of thumb;2-3 toe syndactyly Cardiomyopathy;HP:0001638 33015733 False 3 100;0;0 0.231 True ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair;syndromic HCM Cardiomyopathy;HP:0001638 23918763;19684605;22528146 False 3 0;0;0 0.231 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 Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary MIM#212140 Cardiomyopathy;HP:0001638 24816252;27604308;22989098;18337137;27807682 False 3 100;0;0 0.231 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 Expert Review Green;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmia, liver disease, hyperammonaemia, hypoketotic hypoglycaemia;Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle);Carnitine acylcarnitines translocase deficiency CAT;HCM, DCM Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A4 gene SLC25A4 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Hypertrophic cardiomyopathy;Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Disorders of mitochondrial protein transport;Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Cardiomyopathy;HP:0001638 27604308 False 3 50;0;50 0.231 True ENSG00000151729 ENSG00000151729 HGNC:10990 SOS1 gene SOS1 Expert List;Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome;Noonan syndrome 4;Noonan syndrome 4 610733;syndromic HCM Cardiomyopathy;HP:0001638 19438935;17143285;17143282;17586837 False 3 0;0;0 0.231 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 Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 9 616559;Noonan syndrome 9 Cardiomyopathy;HP:0001638 26173643;25795793 False 3 0;0;0 0.231 False Other - please provide details in the comments ENSG00000100485 ENSG00000100485 HGNC:11188 SPEG gene SPEG Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy;centronuclear myopathy Cardiomyopathy;HP:0001638 32925938;33794647 False 3 100;0;0 0.231 True ENSG00000072195 ENSG00000072195 HGNC:16901 SURF1 gene SURF1 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000148290 ENSG00000148290 HGNC:11474 TAB2 gene TAB2 Expert Review Green;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like;Congenital heart defects, nonsyndromic, 2 (MIM#614980) Cardiomyopathy;HP:0001638 34456334 False 3 100;0;0 0.231 True ENSG00000055208 ENSG00000055208 HGNC:17075 TAZ gene TAZ Expert Review Green;London South GLH;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, 302060;Dilated Cardiomyopathy, X-Linked;Left Ventricular Noncompaction Cardiomyopathy;Neutropenia, muscle weakness, growth retardation;Non-compaction cardiomyopathy;HCM, mixed;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial lipid metabolism;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias);Barth syndrome Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBX20 gene TBX20 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021, TBX20-related Cardiomyopathy;HP:0001638 26118961;17668378;27510170;35282022;37657916 False 3 100;0;0 0.231 True ENSG00000164532 ENSG00000164532 HGNC:11598 TBX5 gene TBX5 Expert Review;Expert Review Green Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, MIM# 142900;Dilated cardiomyopathy Cardiomyopathy;HP:0001638 32449309;32236096;25963046;25725155 False 3 100;0;0 0.231 True ENSG00000089225 ENSG00000089225 HGNC:11604 TMEM126B gene TMEM126B Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 Cardiomyopathy;HP:0001638 27374773;27374774 False 3 0;0;0 0.231 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM43 gene TMEM43 Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5;Emery-Dreifuss muscular dystrophy 7, AD 614302 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM70 gene TMEM70 Expert Review Green;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000175606 ENSG00000175606 HGNC:26050 TNNC1 gene TNNC1 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 13,;Cardiomyopathy, dilated, 1Z Cardiomyopathy;HP:0001638 False 3 0;100;0 0.231 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2A,;Cardiomyopathy, familial hypertrophic, 7;Cardiomyopathy, dilated, 1FF;Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy 616117 Cardiomyopathy;HP:0001638 False 3 0;0;0 0.231 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial hypertrophic, 2;Hypertrophic cardiomyopathy;Left ventricular noncompaction 6, Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000118194 ENSG00000118194 HGNC:11949 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072;Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Cardiomyopathy;HP:0001638 24856141;27342937;32055997;25425325 False 3 100;0;0 0.231 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPM1 gene TPM1 Expert Review Green;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9,;Cardiomyopathy, dilated, 1Y;Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy;HP:0001638 False 3 100;0;0 0.231 False ENSG00000140416 ENSG00000140416 HGNC:12010 TSFM gene TSFM Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 3, 610505;Combined oxidative phosphorylation deficiency 3 610505 Cardiomyopathy;HP:0001638 27604308 False 3 0;0;0 0.231 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9,;Cardiomyopathy, dilated, 1G Cardiomyopathy;HP:0001638 http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 3 0;100;0 0.231 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Green;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM Cardiomyopathy;HP:0001638 31118583;31131842;31111153;30878017;30120737 False 3 0;100;0 0.231 False ENSG00000118271 ENSG00000118271 HGNC:12405 UQCRFS1 gene UQCRFS1 Expert Review Green;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775;cardiomyopathy;thrombocytopenia;hypotonia Cardiomyopathy;HP:0001638 PMID: 31883641 False 3 50;50;0 0.231 True ENSG00000169021 ENSG00000169021 HGNC:12587 VCL gene VCL Expert Review Green;Expert Review Red;NHS GMS;South West GLH;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 15,;Cardiomyopathy, dilated, 1W Cardiomyopathy;HP:0001638 False 3 0;0;100 0.231 False ENSG00000035403 ENSG00000035403 HGNC:12665