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 AGL gene AGL Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic-hypocontractile cardiomyopathy;Glycogen storage disease type IIIa (debrancher enzyme deficiency);syndromic HCM;Glycogen storage disease IIIb, 232400;myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases;Glycogen Storage Disease;Glycogen Storage Disease Type III;Glycogen storage disease IIIa, 232400;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen storage disease type III, Cori (Glycogen storage disorders);HCM National Metabolic Biochemistry Network Best Practice Guidelines Investigation of An Inherited Metabolic Cause of Cardiomyopathy, Authors: Ann Bowron, Simon Olpin (13 Jul 2012) http://www.metbio.net/metbioGuidelines.asp;27604308 False 2 100;0;0 7.99 False ENSG00000162688 ENSG00000162688 HGNC:321 ANK2 gene ANK2 Expert Review Amber;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 7.99 False ENSG00000145362 ENSG00000145362 HGNC:493 ARSB gene ARSB Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;MUCOPOLYSACCHARIDOSIS TYPE 6;Mucopolysaccharidosis, Type VI;MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type VI 27604308 False 2 100;0;0 7.99 False ENSG00000113273 ENSG00000113273 HGNC:714 ASNA1 gene ASNA1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, dilated, 2H, OMIM:620203 31461301 False 2 0;100;0 7.99 False ENSG00000198356 ENSG00000198356 HGNC:752 ATP5D gene ATP5D Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 2 100;0;0 7.99 False ENSG00000099624 ENSG00000099624 HGNC:837 ATPAF2 gene ATPAF2 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 False 2 67;33;0 7.99 False ENSG00000171953 ENSG00000171953 HGNC:18802 BRAF gene BRAF Expert List;Expert Review Amber;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 7 613706;Cardio-facio-cutaneous syndrome;Cardiofaciocutaneous syndrome 115150;Noonan Syndrome;syndromic HCM;Cardiofaciocutaneous Syndrome;LEOPARD Syndrome;LEOPARD syndrome 3;LEOPARD syndrome 3 613707 21396583;19206169 False 2 80;20;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL Expert List;Expert Review Amber;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology 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 20543203;19571318;20619386 False 2 67;33;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000110395 ENSG00000110395 HGNC:1541 COX14 gene COX14 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, OMIM:220110 22243966 False 2 75;25;0 7.99 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX20 gene COX20 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 2 100;0;0 7.99 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX6B1 gene COX6B1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 2 67;33;0 7.99 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Linear skin defects with multiple congenital anomalies 2, 300887 False 2 50;50;0 7.99 False ENSG00000131174 ENSG00000131174 HGNC:2291 CRLS1 gene CRLS1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 2 0;100;0 7.99 False ENSG00000088766 ENSG00000088766 HGNC:16148 CRYAB gene CRYAB Expert Review Amber;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1II, OMIM:615184;Myopathy, myofibrillar, 2, OMIM:608810 False 2 0;100;0 7.99 False ENSG00000109846 ENSG00000109846 HGNC:2389 FAH gene FAH Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Liver failure, vomiting, renal tubulopathy;Tyrosinemia, type I;Tyrosinaemia type 1 (fumarylactoacetase deficiency);HCM 27604308 False 2 100;0;0 7.99 False ENSG00000103876 ENSG00000103876 HGNC:3579 FASTKD2 gene FASTKD2 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 28499982 False 2 67;33;0 7.99 False ENSG00000118246 ENSG00000118246 HGNC:29160 FNIP1 gene FNIP1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy;Primary Immunodeficiency;Agammaglobulinemia;Neutropenia 32181500;32905580 False 2 100;0;0 7.99 False ENSG00000217128 ENSG00000217128 HGNC:29418 FOXRED1 gene FOXRED1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 False 2 50;50;0 7.99 False ENSG00000110074 ENSG00000110074 HGNC:26927 GATA6 gene GATA6 Expert Review Amber;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 7.99 False ENSG00000141448 ENSG00000141448 HGNC:4174 GLB1 gene GLB1 Expert Review Amber;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, 230500;Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis (Sphingolipidoses);syndromic HCM;Mucopolysaccharidosis Type IVB;GM1-gangliosidosis, type II, 230600;MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis, Type IV 27604308 False 2 67;33;0 7.99 False ENSG00000170266 ENSG00000170266 HGNC:4298 GSN gene GSN Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120;cranial neuropathy;peripheral neuropathy;cutis laxa;cardiomyopathy, MONDO:0004994;arrhythmia 33499149;26339870 False 2 100;0;0 7.99 False ENSG00000148180 ENSG00000148180 HGNC:4620 HCN4 gene HCN4 Expert Review Amber;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 100;0;0 7.99 False ENSG00000138622 ENSG00000138622 HGNC:16882 HFE gene HFE Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200;Iron overload, liver disease, diabetes, hypogonadism;Hypertrophic-hypocontractile cardiomyopathy 27604308 False 2 50;50;0 7.99 False ENSG00000010704 ENSG00000010704 HGNC:4886 HGSNAT gene HGSNAT Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IIIC;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses);Retinitis Pigmentosa 73;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type III;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 27604308;21048366 False 2 33;33;33 7.99 False ENSG00000165102 ENSG00000165102 HGNC:26527 IDS gene IDS Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females MPS II, Hunter disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 2;Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II 27604308 False 2 100;0;0 7.99 False ENSG00000010404 ENSG00000010404 HGNC:5389 JAK1 gene JAK1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammation, immune dysregulation, and eosinophilia, OMIM:618999;autoinflammation, immune dysregulation, and eosinophilia, MONDO:0033558;dilated cardiomyopathy, MONDO:0005021 39472908;40744288 False 2 0;100;0 7.99 False ENSG00000162434 ENSG00000162434 HGNC:6190 KBTBD13 gene KBTBD13 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy 6, autosomal dominant, OMIM:609273;intrinsic cardiomyopathy, MONDO:0000591 36335629 False 2 50;50;0 7.99 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000234438 ENSG00000234438 HGNC:37227 LRPPRC gene LRPPRC Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111 12529507;26510951;22045337;24399447 False 2 75;25;0 7.99 False ENSG00000138095 ENSG00000138095 HGNC:15714 MIB1 gene MIB1 Expert Review Amber;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 7, OMIM:615092 23314057 False 2 67;33;0 7.99 False ENSG00000101752 ENSG00000101752 HGNC:21086 MMACHC gene MMACHC Expert Review Amber;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400;DCM;Methylmalonic aciduria;Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap;Hypertrophic-hypocontractile cardiomyopathy 27604308 False 2 33;67;0 7.99 False ENSG00000132763 ENSG00000132763 HGNC:24525 MT-ND5 gene MT-ND5 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology MITOCHONDRIAL hypertrophic cardiomyopathy, MONDO:0005045 14520659;22759514;23847141;30587702 False 2 67;0;33 7.99 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-TL1 gene MT-TL1 Expert Review;Expert Review Amber;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;hypertrophic cardiomyopathy, MONDO:0005045 7473662;8477849;12874464;14673589;25639022;30888501;30133155 False 2 67;0;33 7.99 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TV gene MT-TV Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology MITOCHONDRIAL MELAS syndrome, MONDO:0010789;hypertrophic cardiomyopathy, MONDO:000504 15320572;21986556;34298071 False 2 100;0;0 7.99 False Other ENSG00000210077 ENSG00000210077 HGNC:7500 NAA10 gene NAA10 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Ogden syndrome, OMIM:300855 29748569 False 2 0;100;0 7.99 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 Expert Review Amber;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787;hypertrophic cardiomyopathy, MONDO:0005045 33103328;39472908 False 2 0;100;0 7.99 False ENSG00000164134 ENSG00000164134 HGNC:30782 NAGLU gene NAGLU Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;Mucopolysaccharidosis Type IIIB;MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type III;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses) 27604308 False 2 50;50;0 7.99 False ENSG00000108784 ENSG00000108784 HGNC:7632 NDUFA1 gene NDUFA1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, nuclear type 12, 301020 False 2 100;0;0 7.99 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 False 2 100;0;0 7.99 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFAF2 gene NDUFAF2 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 False 2 100;0;0 7.99 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 False 2 100;0;0 7.99 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 False 2 100;0;0 7.99 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 616238 False 2 100;0;0 7.99 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFB3 gene NDUFB3 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 False 2 100;0;0 7.99 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 29429571;27290639 False 2 33;67;0 7.99 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFS1 gene NDUFS1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 2 100;0;0 7.99 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS3 gene NDUFS3 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 False 2 100;0;0 7.99 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 False 2 100;0;0 7.99 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 False 2 100;0;0 7.99 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 2 100;0;0 7.99 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFV1 gene NDUFV1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 False 2 100;0;0 7.99 False ENSG00000167792 ENSG00000167792 HGNC:7716 NUBPL gene NUBPL Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 False 2 100;0;0 7.99 False ENSG00000151413 ENSG00000151413 HGNC:20278 PDLIM3 gene PDLIM3 Expert Review Amber;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25163546;17254821;31424159;30681346;26455666;20801532 False 2 33;33;33 7.99 False ENSG00000154553 ENSG00000154553 HGNC:20767 PET100 gene PET100 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 2 67;33;0 7.99 False ENSG00000229833 ENSG00000229833 HGNC:40038 PLD1 gene PLD1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiac valvular dysplasia 1, OMIM:212093;cardiac valvular defect, developmental, MONDO:0008913;neonatal cardiomyopathy 27799408;33645542;39472908;39681445 False 2 25;50;25 7.99 False ENSG00000075651 ENSG00000075651 HGNC:9067 PNPLA2 gene PNPLA2 Expert Review Amber;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal DCM;Neutral lipid storage disease with myopathy NLSDM;Lipid myopathy, muscle weakness Jordans anomaly - neutral lipidcontaining vacuoles in leukocytes False 2 67;33;0 7.99 False ENSG00000177666 ENSG00000177666 HGNC:30802 RASA2 gene RASA2 Expert Review Amber;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome? PMID: 25049390 False 2 0;100;0 7.99 False ENSG00000155903 ENSG00000155903 HGNC:9872 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 32870709 False 2 0;100;0 7.99 False ENSG00000007384 ENSG00000007384 HGNC:20561 RNF220 gene RNF220 Expert Review Amber;Literature;Other Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy,MONDO:0005021 33964137;10881263 False 2 100;0;0 7.99 False ENSG00000187147 ENSG00000187147 HGNC:25552 SDHA gene SDHA Expert Review Amber;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paragangliomas 5, 614165;Cardiomyopathy, dilated, 1GG, 613642;Mitochondrial Respiratory Chain Complex II Deficiency;Leigh syndrome, 256000;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial respiratory chain complex II deficiency, 252011;Isolated complex II deficiency;Cardiomyopathy, dilated, 1GG 27604308 False 2 100;0;0 7.99 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 22995659;26642834;19465911 False 2 75;0;25 7.99 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHD gene SDHD Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 26008905;24367056 False 2 100;0;0 7.99 False ENSG00000204370 ENSG00000204370 HGNC:10683 SGCD gene SGCD Expert Review Amber;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1L, 606685 18779423;23900355;10735275 False 2 33;67;0 7.99 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGSH gene SGSH Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, Type III;MUCOPOLYSACCHARIDOSIS TYPE 3A;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);Mucopolysaccharidosis Type III;Mucopolysaccharidosis Type IIIA 27604308 False 2 50;50;0 7.99 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 33015733 False 2 100;0;0 7.99 False ENSG00000182199 ENSG00000182199 HGNC:10852 SLC30A5 gene SLC30A5 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Perinatal lethal cardiomyopathy;cardiomyopathy, MONDO:0004994 33547425;12095919 False 2 0;100;0 7.99 False ENSG00000145740 ENSG00000145740 HGNC:19089 SURF1 gene SURF1 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K, 616684;Leigh syndrome, due to COX IV deficiency, 256000 False 2 100;0;0 7.99 False ENSG00000148290 ENSG00000148290 HGNC:11474 TKFC gene TKFC Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, OMIM:618805;triokinase and FMN cyclase deficiency syndrome, MONDO:0032927;cardiomyopathy, MONDO:0004994 32004446;39251934;39472908 False 2 0;100;0 7.99 False ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM126B gene TMEM126B Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 27374773;27374774 False 2 60;40;0 7.99 False ENSG00000171204 ENSG00000171204 HGNC:30883 TOR1AIP1 gene TOR1AIP1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology 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 24856141;27342937;32055997;25425325 False 2 100;0;0 7.99 False ENSG00000143337 ENSG00000143337 HGNC:29456 TREX1 gene TREX1 Expert Review Amber;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750;Aicardi-Goutieres syndrome 1, MONDO:0009165;cardiomyopathy, MONDO:0004994 15254239;36581356;39472908 False 2 0;100;0 7.99 False ENSG00000213689 ENSG00000213689 HGNC:12269 UQCC2 gene UQCC2 Expert Review Amber;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 2 50;50;0 7.99 False ENSG00000137288 ENSG00000137288 HGNC:21237