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 ANKRD1 gene ANKRD1 Expert Review Red;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant False 1 0;50;50 7.99 False ENSG00000148677 ENSG00000148677 HGNC:15819 APOPT1 gene APOPT1 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061 False 1 50;0;50 7.99 False ENSG00000256053 ENSG00000256053 HGNC:20492 B3GAT3 gene B3GAT3 Expert Review Red;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600;B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 1 0;0;100 7.99 False ENSG00000149541 ENSG00000149541 HGNC:923 BCS1L gene BCS1L Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000 False 1 67;0;33 7.99 False ENSG00000074582 ENSG00000074582 HGNC:1020 BTK gene BTK Expert Review Red;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology False 1 0;0;100 7.99 False ENSG00000010671 ENSG00000010671 HGNC:1133 COA7 gene COA7 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, 618387 27683825;29718187 False 1 50;0;50 7.99 False ENSG00000162377 ENSG00000162377 HGNC:25716 COX6A1 gene COX6A1 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 1 50;0;50 7.99 False ENSG00000111775 ENSG00000111775 HGNC:2277 CPS1 gene CPS1 Expert Review Red;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) 24816252;27604308 False 1 0;0;100 7.99 False ENSG00000021826 ENSG00000021826 HGNC:2323 CTF1 gene CTF1 Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 7.99 False ENSG00000150281 ENSG00000150281 HGNC:2499 CYC1 gene CYC1 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 6, 615453 False 1 50;0;50 7.99 False ENSG00000179091 ENSG00000179091 HGNC:2579 DHCR7 gene DHCR7 Expert Review Red;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cataracts;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;IUGR and IGF abnormalities;Intellectual disability 27604308 False 1 0;0;100 7.99 False ENSG00000172893 ENSG00000172893 HGNC:2860 DTNA gene DTNA Expert Review Red;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 1, with or without congenital heart defects, False 1 0;0;100 7.99 False ENSG00000134769 ENSG00000134769 HGNC:3057 ETFA gene ETFA Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Glutaric acidemia IIA;Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation);HCM 27604308 False 1 50;0;50 7.99 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB;Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation);HCM 27604308 False 1 50;0;50 7.99 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Disorders of ubiquinone metabolism and biosynthesis;GLUTARIC ACIDURIA TYPE 2C;Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation);Glutaric acidemia IIC;Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II);Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia;HCM 24816252;27604308 False 1 50;0;50 7.99 False ENSG00000171503 ENSG00000171503 HGNC:3483 EYA4 gene EYA4 Expert Review Red;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1J, OMIM:605362 False 1 0;67;33 7.99 False ENSG00000112319 ENSG00000112319 HGNC:3522 FGFR3 gene FGFR3 Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 39472908 False 1 0;0;100 7.99 False ENSG00000068078 ENSG00000068078 HGNC:3690 GALNS gene GALNS Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis Type IVA;MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis, Type IV;MPS IVA, Morquio A disease (MPS IV, Morquio disease) 27604308 False 1 50;0;50 7.99 False ENSG00000141012 ENSG00000141012 HGNC:4122 GBE1 gene GBE1 Expert Review Red;MetBioNet;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 27604308 False 1 33;33;33 7.99 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLRA1 gene GLRA1 Expert Review Red;London South GLH;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 1 0;0;100 7.99 False ENSG00000145888 ENSG00000145888 HGNC:4326 GNS gene GNS Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 27604308 False 1 50;0;50 7.99 False ENSG00000135677 ENSG00000135677 HGNC:4422 ILK gene ILK Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology Unknown False 1 0;0;100 7.99 False ENSG00000166333 ENSG00000166333 HGNC:6040 KIF20A gene KIF20A Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial restrictive, 6, OMIM:619433 29357359 False 1 0;0;100 7.99 False ENSG00000112984 ENSG00000112984 HGNC:9787 LAMA4 gene LAMA4 Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 7.99 False ENSG00000112769 ENSG00000112769 HGNC:6484 LYRM7 gene LYRM7 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8, 615838 29353736 False 1 75;0;25 7.99 False ENSG00000186687 ENSG00000186687 HGNC:28072 MCM10 gene MCM10 Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Restrictive cardiomyopathy, MONDO:0005201 33712616 False 1 0;0;100 7.99 False ENSG00000065328 ENSG00000065328 HGNC:18043 NDUFA4 gene NDUFA4 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225;38674434;39472908 False 1 40;40;20 7.99 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 1 33;33;33 7.99 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA9 gene NDUFA9 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 22114105;28671271 False 1 50;25;25 7.99 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF6 gene NDUFAF6 Expert Review Red;MetBioNet;NHS GMS;Victorian Clinical Genetics Services Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 612392 False 1 50;0;50 7.99 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 1 50;0;50 7.99 False ENSG00000224877 ENSG00000224877 HGNC:33551 NEB gene NEB Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive, OMIM:256030 23650303;26321576;28131200;29070751;29070751;39472908 False 1 0;0;100 7.99 False ENSG00000183091 ENSG00000183091 HGNC:7720 NEBL gene NEBL Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 7.99 False ENSG00000078114 ENSG00000078114 HGNC:16932 NPHP3 gene NPHP3 Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, OMIM:208540;Nephronophthisis 3, OMIM:604387;Meckel syndrome 7, OMIM:267010 34212438;39472908 False 1 0;0;100 7.99 False ENSG00000113971 ENSG00000113971 HGNC:7907 SCN8A gene SCN8A Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558;Seizures, benign familial infantile, 5, OMIM:617080;?Myoclonus, familial, 2, OMIM:618364 3947290 False 1 0;0;100 7.99 False ENSG00000196876 ENSG00000196876 HGNC:10596 SELENON gene SELENON Expert Review Red;Literature Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 3 with rigid spine, OMIM:602771;rigid spine muscular dystrophy 1, MONDO:0011271 35868898;39472908 False 1 0;0;100 7.99 False ENSG00000162430 ENSG00000162430 HGNC:15999 SPRED1 gene SPRED1 Expert List;Expert Review Red;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome 611431 19366998;19443465;21649642;21548021;17704776 False 1 33;0;67 7.99 False ENSG00000166068 ENSG00000166068 HGNC:20249 TACO1 gene TACO1 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 1 50;0;50 7.99 False ENSG00000136463 ENSG00000136463 HGNC:24316 TCAP gene TCAP Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophies;Cardiomyopathy, dilated, 1N 21530252;23479141 False 1 0;0;100 7.99 False ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 Expert Review Red;London South GLH;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1 False 1 0;0;100 7.99 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMPO gene TMPO Expert Review Red;NHS GMS;South West GLH Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant False 1 0;0;100 7.99 False ENSG00000120802 ENSG00000120802 HGNC:11875 TTC19 gene TTC19 Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 False 1 50;0;50 7.99 False ENSG00000011295 ENSG00000011295 HGNC:26006 UQCRB gene UQCRB Expert Review Red;MetBioNet;NHS GMS Paediatric or syndromic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158 28604960;25446085;12709789 False 1 67;0;33 7.99 False ENSG00000156467 ENSG00000156467 HGNC:12582 ISCA-37431-Loss region Expert Review Red;ClinGen Paediatric or syndromic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dysmorphic features, cardiac anomalies and mental retardation;613675;variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors;NF1 MICRODELETION SYNDROME;NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME;Chromosome 17q11.2 deletion syndrome, 1.4Mb False 1 0;100;0 7.99 False 17 30780079 31937008 3 60 cnv_loss 17q11.2 recurrent region (includes NF1) Loss