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 CDH2 gene CDH2 Expert list;Expert Review Amber Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Cardiomyopathy;HP:0001638 28280076 False 2 0;100;0 0.231 True ENSG00000170558 ENSG00000170558 HGNC:1759 COX14 gene COX14 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Cardiomyopathy;HP:0001638 22243966 False 2 0;100;0 0.231 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX6B1 gene COX6B1 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Cardiomyopathy;HP:0001638 18499082;24781756 False 2 0;100;0 0.231 True ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Amber;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 False 2 0;0;0 0.231 False ENSG00000131174 ENSG00000131174 HGNC:2291 CRLS1 gene CRLS1 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, MIM# 620167 Cardiomyopathy;HP:0001638 35147173 False 2 0;100;0 0.231 True ENSG00000088766 ENSG00000088766 HGNC:16148 CRYAB gene CRYAB Expert Review Amber;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1II,;Myopathy, myofibrillar, fatal infantile hypertrophy, alpha B crystallin related, 613869 Cardiomyopathy;HP:0001638 False 2 0;0;0 0.231 False ENSG00000109846 ENSG00000109846 HGNC:2389 EYA4 gene EYA4 Expert Review Amber;London South GLH;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1J, MIM# 605362 Cardiomyopathy;HP:0001638 10769282;30155266 False 2 0;100;0 0.231 True ENSG00000112319 ENSG00000112319 HGNC:3522 FASTKD2 gene FASTKD2 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, 220110 Cardiomyopathy;HP:0001638 28499982 False 2 0;0;0 0.231 False ENSG00000118246 ENSG00000118246 HGNC:29160 FHL2 gene FHL2 Expert Review;Expert Review Amber Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, MONDO:0004994, FHL2-related Cardiomyopathy;HP:0001638 36854411;25358972 False 2 0;100;0 0.231 True ENSG00000115641 ENSG00000115641 HGNC:3703 FKRP gene FKRP Expert Review Amber;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy;HP:0001638 False 2 0;0;0 0.231 False ENSG00000181027 ENSG00000181027 HGNC:17997 FOXRED1 gene FOXRED1 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 Cardiomyopathy;HP:0001638 False 2 0;0;0 0.231 False ENSG00000110074 ENSG00000110074 HGNC:26927 GATA6 gene GATA6 Expert Review Amber;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy;HP:0001638 False 2 0;0;0 0.231 False ENSG00000141448 ENSG00000141448 HGNC:4174 GLA gene GLA Expert Review Amber;Expert Review Green;London South GLH;MetBioNet;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) Fabry disease, cardiac variant, 301500;Fabry disease (Sphingolipidoses);Fabry disease, 301500;Fabry Disease;HCM;syndromic HCM;Limb pain, angiokeratom;Fabry disease;HCM is a late complication in adults, also found in female carriers Cardiomyopathy;HP:0001638 27604308 False 2 50;0;50 0.231 False ENSG00000102393 ENSG00000102393 HGNC:4296 HFE gene HFE Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, 235200;Hemochromatosis;Hereditary haemochromatosis Type 1 (Disorder of iron metabolism);DCM;Haemochromatosis;Iron overload, liver disease, diabetes, hypogonadism;HCM;Hypertrophic-hypocontractile cardiomyopathy Cardiomyopathy;HP:0001638 27604308 False 2 0;0;0 0.231 False ENSG00000010704 ENSG00000010704 HGNC:4886 HGSNAT gene HGSNAT Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses);Mucopolysaccharidosis Type III;Mucopolysaccharidosis Type IIIC;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Retinitis Pigmentosa 73 Cardiomyopathy;HP:0001638 27604308;21048366 False 2 0;0;0 0.231 False ENSG00000165102 ENSG00000165102 HGNC:26527 JPH2 gene JPH2 Expert Review Amber;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, MIM#613873;Cardiomyopathy, dilated, 2E, MIM# 619492 Cardiomyopathy;HP:0001638 30681346;17509612;23973696;26869393;28393127;30235249;29540472;31227780;29165669;27471098;30384889;31227780;10949023;23715556 False 2 0;100;0 0.231 True ENSG00000149596 ENSG00000149596 HGNC:14202 MCM10 gene MCM10 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313;Restrictive cardiomyopathy Cardiomyopathy;HP:0001638 32865517;33712616 False 2 0;100;0 0.231 True ENSG00000065328 ENSG00000065328 HGNC:18043 MMACHC gene MMACHC Expert Review Amber;MetBioNet;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Methylmalonic aciduria;DCM;Methylmalonic aciduria and homocystinuria, cblC type, 277400;Hypertrophic-hypocontractile cardiomyopathy Cardiomyopathy;HP:0001638 27604308 False 2 0;0;0 0.231 False ENSG00000132763 ENSG00000132763 HGNC:24525 MRPS36 gene MRPS36 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Cardiomyopathy;HP:0001638 PMID: 41018056;38685873 False 2 0;100;0 0.231 True ENSG00000134056 ENSG00000134056 HGNC:16631 MT-TI gene MT-TI Expert Review Amber;Expert Review Green;Literature;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MITOCHONDRIAL Cardiomyopathy;HP:0001638 False 2 0;100;0 0.231 False ENSG00000210100 ENSG00000210100 HGNC:7488 MYLK3 gene MYLK3 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy Cardiomyopathy;HP:0001638 29235529;31244672;32213617;32870709 False 2 0;100;0 0.231 True ENSG00000140795 ENSG00000140795 HGNC:29826 MYPN gene MYPN Expert Review Amber;Literature;NHS GMS;South West GLH Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 24, MIM# 617336;Cardiomyopathy, dilated, 1KK, MIM# 615248;Cardiomyopathy, hypertrophic, 22, MIM# 615248 Cardiomyopathy;HP:0001638 False 2 0;50;50 0.231 True ENSG00000138347 ENSG00000138347 HGNC:23246 NAA15 gene NAA15 Expert Review Amber;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Mental retardation, autosomal dominant 50, MIM# 617787;cardiomyopathy" Cardiomyopathy;HP:0001638 33103328 False 2 0;50;50 0.231 True ENSG00000164134 ENSG00000164134 HGNC:30782 NAGLU gene NAGLU Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses);Mucopolysaccharidosis, Type III;MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;Mucopolysaccharidosis Type IIIB Cardiomyopathy;HP:0001638 27604308 False 2 0;0;0 0.231 False ENSG00000108784 ENSG00000108784 HGNC:7632 NDUFA11 gene NDUFA11 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 Cardiomyopathy;HP:0001638 18306244;31074871 False 2 0;100;0 0.231 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFAF4 gene NDUFAF4 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 Cardiomyopathy;HP:0001638 32949790;28853723;18179882 False 2 0;100;0 0.231 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFB7 gene NDUFB7 Expert Review;Expert Review Amber Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Cardiomyopathy;HP:0001638 33502047;27626371 False 2 0;100;0 0.231 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 Cardiomyopathy;HP:0001638 29429571;27290639 False 2 0;0;0 0.231 False ENSG00000166136 ENSG00000166136 HGNC:7703 PET100 gene PET100 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 Cardiomyopathy;HP:0001638 False 2 0;0;0 0.231 False ENSG00000229833 ENSG00000229833 HGNC:40038 RASA2 gene RASA2 Expert Review Amber;London South GLH;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome MONDO:0018997, RASA2-related Cardiomyopathy;HP:0001638 PMID: 25049390 False 2 0;100;0 0.231 True ENSG00000155903 ENSG00000155903 HGNC:9872 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy Cardiomyopathy;HP:0001638 32870709 False 2 0;100;0 0.231 True ENSG00000007384 ENSG00000007384 HGNC:20561 SCO1 gene SCO1 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Cardiomyopathy;HP:0001638 11013136;19295170;31352446;23878101 False 2 0;100;0 0.231 True ENSG00000133028 ENSG00000133028 HGNC:10603 SGSH gene SGSH Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IIIA;Mucopolysaccharidosis Type III;MUCOPOLYSACCHARIDOSIS TYPE 3A;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);Mucopolysaccharidosis, Type III Cardiomyopathy;HP:0001638 27604308 False 2 0;0;0 0.231 False ENSG00000181523 ENSG00000181523 HGNC:10818 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy MONDO:0004994, SLC30A5-related;Perinatal lethal cardiomyopathy Cardiomyopathy;HP:0001638 33547425;12095919 False 2 0;100;0 0.231 True ENSG00000145740 ENSG00000145740 HGNC:19089 SPRED2 gene SPRED2 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Noonan syndrome 14, MIM# 619745" Cardiomyopathy;HP:0001638 34626534 False 2 0;100;0 0.231 True ENSG00000198369 ENSG00000198369 HGNC:17722 STX4 gene STX4 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 123, MIM# 620745 Cardiomyopathy;HP:0001638 36355422;35599850 False 2 0;100;0 0.231 True ENSG00000103496 ENSG00000103496 HGNC:11439 UQCC2 gene UQCC2 Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, 615824 Cardiomyopathy;HP:0001638 28804536;24385928 False 2 0;0;0 0.231 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Amber;MetBioNet;NHS GMS Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, 615158 Cardiomyopathy;HP:0001638 12709789;25446085;28604960 False 2 0;100;0 0.231 True ENSG00000156467 ENSG00000156467 HGNC:12582 WDR59 gene WDR59 Expert Review Amber;Literature Cardiomyopathy_Paediatric Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Syndromic disease, MONDO:0002254 Cardiomyopathy;HP:0001638 41715954 False 2 0;100;0 0.231 True ENSG00000103091 ENSG00000103091 HGNC:25706