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 CACNA1H gene CACNA1H Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal 25773295;31070086;41272325 False 2 50;50;0 7.61 False ENSG00000196557 ENSG00000196557 HGNC:1395 CCDC78 gene CCDC78 Expert;Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown centronuclear myopathy-4, OMIM:614807;Centronuclear myopathy 4, MONDO:0013890 22818856;25635128;39273074 False 2 29;43;29 7.61 False ENSG00000162004 ENSG00000162004 HGNC:14153 CNTN1 gene CNTN1 Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 12, OMIM:612540 19026398;32779773 False 2 33;50;17 7.61 False ENSG00000018236 ENSG00000018236 HGNC:2171 DHX16 gene DHX16 Expert Review Amber;Literature Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733 31256877 False 2 0;100;0 7.61 False ENSG00000204560 ENSG00000204560 HGNC:2739 DST gene DST Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 29 with contractures, OMIM:621510;congenital myopathy 29 with contractures, MONDO:0981030 40497796;35942699 False 2 100;0;0 7.61 False ENSG00000151914 ENSG00000151914 HGNC:1090 FLNC gene FLNC Expert Review;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524 29858533 False 2 0;0;100 7.61 False ENSG00000128591 ENSG00000128591 HGNC:3756 HMGCS1 gene HMGCS1 Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 28 with rigid spine, OMIM:621433;congenital myopathy 28 with rigid spine, MONDO:0980756 39531736 False 2 100;0;0 7.61 False ENSG00000112972 ENSG00000112972 HGNC:5007 HRAS gene HRAS Expert Review Amber;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy with excess of muscle spindles, OMIM:218040;Costello syndrome, OMIM:218040;Costello syndrome, MONDO:0009026 17412879;25070542;26001911 False 2 67;33;0 7.61 False ENSG00000174775 ENSG00000174775 HGNC:5173 JPH1 gene JPH1 Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 25, OMIM:620964;congenital myopathy 25, MONDO:0975808 39209426 False 2 100;0;0 7.61 False ENSG00000104369 ENSG00000104369 HGNC:14201 LAMP2 gene LAMP2 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, OMIM:300257 12084876;21415759 False 2 33;67;0 7.61 True ENSG00000005893 ENSG00000005893 HGNC:6501 MTMR14 gene MTMR14 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 19465920 False 2 67;33;0 7.61 True ENSG00000163719 ENSG00000163719 HGNC:26190 MT-TA gene MT-TA Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 11715067;14569122;17825557 False 2 0;100;0 7.61 False Other ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TG gene MT-TG Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL mitochondrial encephalomyopathy, MONDO:0004675 11971101;16120360 False 2 50;50;0 7.61 False Other ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TP gene MT-TP Expert Review Amber;Literature Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 7689388;32305257 False 2 0;100;0 7.61 False Other ENSG00000210196 ENSG00000210196 HGNC:7494 MYBPC3 gene MYBPC3 Expert Review;Expert Review Amber;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197 19858127 False 2 67;33;0 7.61 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYF5 gene MYF5 Expert list;Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155 29887215 False 2 0;67;33 7.61 False Other ENSG00000111049 ENSG00000111049 HGNC:7565 NEFL gene NEFL Expert Review Amber;UCL Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline Myopathy 25264603 False 2 0;0;0 7.61 True ENSG00000104725 ENSG00000277586 HGNC:7739 PACSIN3 gene PACSIN3 Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 27, OMIM:621343;congenital myopathy 27, MONDO:0979897 29202928;38637313 False 2 100;0;0 7.61 False ENSG00000165912 ENSG00000165912 HGNC:8572 PPA2 gene PPA2 Expert Review;Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222 False 2 0;100;0 7.61 False ENSG00000138777 ENSG00000138777 HGNC:28883 SLC25A42 gene SLC25A42 Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 26541337;29923093;29327420 False 2 0;33;67 7.61 False ENSG00000181035 ENSG00000181035 HGNC:28380 SPTAN1 gene SPTAN1 Expert Review Amber;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy, MONDO:0018949 40023774;40999194 False 2 100;0;0 7.61 False ENSG00000197694 ENSG00000197694 HGNC:11273 SVIL gene SVIL Expert Review Amber;Literature Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620 32779703 False 2 0;100;0 7.61 False ENSG00000197321 ENSG00000197321 HGNC:11480 TK2 gene TK2 Expert Review Amber;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301 18819985;38544965;40098049 False 2 100;0;0 7.61 False ENSG00000166548 ENSG00000166548 HGNC:11831 TUBA4A gene TUBA4A Expert Review Amber;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy 26, OMIM:621225;congenital myopathy 26, MONDO:0979229 38413182;41678358 False 2 100;0;0 7.61 False ENSG00000127824 ENSG00000127824 HGNC:12407 VWA1 gene VWA1 Expert Review Amber;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 33459760;39502942 False 2 0;100;0 7.61 False ENSG00000179403 ENSG00000179403 HGNC:30910