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 ANK2 gene ANK2 Expert Review Red;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac arrhythmia, ankyrin-B-related MIM#600919;Long QT syndrome 4 MIM#600919 Cardiomyopathy;HP:0001638 39866811;37123301;31264976;28196901 False 1 0;0;100 1.359 True ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 Expert Review Red;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy MONDO:0005021;hypertrophic cardiomyopathy MONDO:0005045 Cardiomyopathy;HP:0001638 30681346 False 1 0;0;100 1.359 True ENSG00000148677 ENSG00000148677 HGNC:15819 ATP5F1D gene ATP5F1D Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 Cardiomyopathy;HP:0001638 29478781 False 1 0;0;100 1.359 True ENSG00000099624 ENSG00000099624 HGNC:837 ATPAF2 gene ATPAF2 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Cardiomyopathy;HP:0001638 14757859 False 1 0;0;100 1.359 True ENSG00000171953 ENSG00000171953 HGNC:18802 B3GAT3 gene B3GAT3 Expert Review Red;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Cardiomyopathy;HP:0001638 27604308 False 1 0;0;100 1.359 True ENSG00000149541 ENSG00000149541 HGNC:923 BCS1L gene BCS1L Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial complex III deficiency nuclear type 1, MONDO:0007415 Cardiomyopathy;HP:0001638 37001142 False 1 0;0;100 1.359 True ENSG00000074582 ENSG00000074582 HGNC:1020 COA5 gene COA5 Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 Cardiomyopathy;HP:0001638 27604308;36641477 False 1 0;0;100 1.359 True ENSG00000183513 ENSG00000183513 HGNC:33848 COA8 gene COA8 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000256053 ENSG00000256053 HGNC:20492 COX20 gene COX20 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX7B gene COX7B Expert Review Red;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 2, 300887 Cardiomyopathy;HP:0001638 23122588 False 1 0;0;100 1.359 True ENSG00000131174 ENSG00000131174 HGNC:2291 COXFA4 gene COXFA4 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Cardiomyopathy;HP:0001638 23746447;29636225;30361421;28988874 False 1 0;0;100 1.359 True ENSG00000189043 ENSG00000189043 HGNC:7687 CRYAB gene CRYAB Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1II, MIM# 615184 Cardiomyopathy;HP:0001638 16483541;16793013 False 1 0;0;100 1.359 True ENSG00000109846 ENSG00000109846 HGNC:2389 CTF1 gene CTF1 Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dilated cardiomyopathy MONDO:0005021, CTF1-related Cardiomyopathy;HP:0001638 11058912;24503780;26084686;7862649;8833032;12234945;24366078;21771897;22733458 False 1 0;0;100 1.359 True ENSG00000150281 ENSG00000150281 HGNC:2499 CYC1 gene CYC1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000179091 ENSG00000179091 HGNC:2579 DTNA gene DTNA Expert Review Red;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169" Cardiomyopathy;HP:0001638 38551768;29118297 False 1 0;0;100 1.359 True ENSG00000134769 ENSG00000134769 HGNC:3057 ETFA gene ETFA Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Glutaric acidemia IIA;Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);HCM;Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Cardiomyopathy;HP:0001638 27604308 False 1 0;0;0 1.359 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);HCM;Glutaric acidemia IIB;Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) Cardiomyopathy;HP:0001638 27604308 False 1 0;0;100 1.359 False ENSG00000105379 ENSG00000105379 HGNC:3482 FASTKD2 gene FASTKD2 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632 Cardiomyopathy;HP:0001638 28499982;31944455 False 1 0;0;100 1.359 True ENSG00000118246 ENSG00000118246 HGNC:29160 FKRP gene FKRP Expert Review Red;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive limb-girdle muscular dystrophy type 2I, MONDO:0011787 Cardiomyopathy;HP:0001638 31671740 False 1 0;0;100 1.359 True ENSG00000181027 ENSG00000181027 HGNC:17997 GALNS gene GALNS Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IVA;MPS IVA, Morquio A disease (MPS IV, Morquio disease);MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis IVA, 253000 Cardiomyopathy;HP:0001638 27604308 False 1 0;0;0 1.359 False ENSG00000141012 ENSG00000141012 HGNC:4122 GATA6 gene GATA6 Expert Review Red;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dilated cardiomyopathy, MONDO:0005021, GATA6-related Cardiomyopathy;HP:0001638 35962153 False 1 0;50;50 1.359 True ENSG00000141448 ENSG00000141448 HGNC:4174 GET3 gene GET3 Expert Review Red;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0001644, ASNA1-related Cardiomyopathy;HP:0001638 31461301;16797549 False 1 0;0;100 1.359 True ENSG00000198356 ENSG00000198356 HGNC:752 GLRA1 gene GLRA1 Expert Review Red;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000145888 ENSG00000145888 HGNC:4326 GNS gene GNS Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, 252940;Mucopolysaccharidosis Type III;Mucopolysaccharidosis Type IIID;Mucopolysaccharidosis, Type III;MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Cardiomyopathy;HP:0001638 27604308 False 1 0;0;0 1.359 False ENSG00000135677 ENSG00000135677 HGNC:4422 GSN gene GSN Expert list;Expert Review Red Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Amyloidosis, Finnish type, MIM# 105120" Cardiomyopathy;HP:0001638 26339870 False 1 0;0;100 1.359 True ENSG00000148180 ENSG00000148180 HGNC:4620 ILK gene ILK Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders Unknown Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000166333 ENSG00000166333 HGNC:6040 KIF20A gene KIF20A Expert Review Red;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, familial restrictive, 6, MIM# 619433" Cardiomyopathy;HP:0001638 29357359 False 1 0;0;100 1.359 True ENSG00000112984 ENSG00000112984 HGNC:9787 LAMA4 gene LAMA4 Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy 1JJ, MONDO:0014095 Cardiomyopathy;HP:0001638 39686469;39272661;36270459;35893073;35526016;31024045 False 1 0;0;100 1.359 True ENSG00000112769 ENSG00000112769 HGNC:6484 LYRM7 gene LYRM7 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, 615838 Cardiomyopathy;HP:0001638 29353736 False 1 0;0;0 1.359 False ENSG00000186687 ENSG00000186687 HGNC:28072 MIB1 gene MIB1 Expert Review Red;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 7, MIM# 615092;cardiomyopathy Cardiomyopathy;HP:0001638 30322850;23314057;40334239;36325906;34564127 False 1 0;50;50 1.359 True ENSG00000101752 ENSG00000101752 HGNC:21086 MRPS14 gene MRPS14 Expert Review Red;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 38, MIM# 618378;hypertrophic cardiomyopathy;growth retardation;hypotonia;intellectual disability Cardiomyopathy;HP:0001638 PMID: 30358850 False 1 0;0;100 1.359 True ENSG00000120333 ENSG00000120333 HGNC:14049 MYH6 gene MYH6 Expert Review Red;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy 1EE MONDO:0013198;hypertrophic cardiomyopathy MONDO:0005045 Cardiomyopathy;HP:0001638 30681346 False 1 0;0;100 1.359 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYO19 gene MYO19 Expert Review Red;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related Cardiomyopathy;HP:0001638 40634996 False 1 0;0;100 1.359 True - ENSG00000278259 HGNC:26234 NDUFA1 gene NDUFA1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA6 gene NDUFA6 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, 618253 Cardiomyopathy;HP:0001638 30245030 False 1 0;0;0 1.359 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA9 gene NDUFA9 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 Cardiomyopathy;HP:0001638 28671271;22114105 False 1 0;0;0 1.359 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF2 gene NDUFAF2 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF5 gene NDUFAF5 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Red;MetBioNet;NHS GMS;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 612392 Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype Cardiomyopathy;HP:0001638 27499296 False 1 0;0;0 1.359 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB3 gene NDUFB3 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFS1 gene NDUFS1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS3 gene NDUFS3 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS6 gene NDUFS6 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000115286 ENSG00000115286 HGNC:7714 NEBL gene NEBL Expert Review Amber;Expert Review Red;Literature;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy;HP:0001638 False 1 100;0;0 1.359 False ENSG00000078114 ENSG00000078114 HGNC:16932 NF1 gene NF1 Expert List;Expert Review Red;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neurofibromatosis type 1, MONDO:0018975 Cardiomyopathy;HP:0001638 16380919;19845691;12707950;30949358;30919579 False 1 0;0;100 1.359 True ENSG00000196712 ENSG00000196712 HGNC:7765 NUBPL gene NUBPL Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000151413 ENSG00000151413 HGNC:20278 PDLIM3 gene PDLIM3 Expert Review Red;Literature;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638 25163546;30681346;26455666;20801532 False 1 0;0;100 1.359 True ENSG00000154553 ENSG00000154553 HGNC:20767 PET100 gene PET100 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000229833 ENSG00000229833 HGNC:40038 PNPLA2 gene PNPLA2 Expert Review Red;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal neutral lipid storage myopathy, MONDO:0012545 Cardiomyopathy;HP:0001638 39119584;31655616 False 1 0;0;100 1.359 True ENSG00000177666 ENSG00000177666 HGNC:30802 RYR2 gene RYR2 Expert Review Red;Literature;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dilated cardiomyopathy MONDO:0005021;hypertrophic cardiomyopathy MONDO:0005045;arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 Cardiomyopathy;HP:0001638 30681346;26573135;22515980;26656175;30835254 False 1 0;50;50 1.359 True ENSG00000198626 ENSG00000198626 HGNC:10484 SDHAF1 gene SDHAF1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Cardiomyopathy;HP:0001638 19465911;26642834;22995659 False 1 0;0;100 1.359 True ENSG00000205138 ENSG00000205138 HGNC:33867 SPRED1 gene SPRED1 Expert List;Expert Review Red;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome 611431 Cardiomyopathy;HP:0001638 19366998;19443465;21649642;21548021;17704776 False 1 0;0;0 1.359 False ENSG00000166068 ENSG00000166068 HGNC:20249 SURF1 gene SURF1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 True ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000136463 ENSG00000136463 HGNC:24316 TCAP gene TCAP Expert Review Red;NHS GMS;South West GLH;Victorian Clinical Genetics Services Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophies;Cardiomyopathy, dilated, 1N Cardiomyopathy;HP:0001638 21530252;23479141 False 1 0;0;100 1.359 False ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 Expert Review Red;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMPO gene TMPO Expert Review Red;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant Cardiomyopathy;HP:0001638 False 1 0;0;100 1.359 False ENSG00000120802 ENSG00000120802 HGNC:11875 TTC19 gene TTC19 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 Cardiomyopathy;HP:0001638 False 1 0;0;0 1.359 False ENSG00000011295 ENSG00000011295 HGNC:26006 UQCC2 gene UQCC2 Expert Review Red;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824 Cardiomyopathy;HP:0001638 28804536;24385928 False 1 0;0;100 1.359 True ENSG00000137288 ENSG00000137288 HGNC:21237