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 ATP2A1 gene ATP2A1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, OMIM:601003 False 1 0;0;100 6.45 False ENSG00000196296 ENSG00000196296 HGNC:811 BAG3 gene BAG3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6, OMIM:612954 19085932 False 1 0;0;100 6.45 True ENSG00000151929 ENSG00000151929 HGNC:939 CASQ1 gene CASQ1 Expert Review Red;London South GLH;NHS GMS;UCL Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231;myopathy due to calsequestrin and SERCA1 protein overload, MONDO:0014546 30258016;25116801;26136523 False 1 20;40;40 6.45 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321 False 1 0;0;100 6.45 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, OMIM:615911;Spinal muscular atrophy, Jokela type, OMIM:615048 25193783 False 1 0;0;100 6.45 False ENSG00000250479 ENSG00000250479 HGNC:15559 COL9A3 gene COL9A3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969 10655510;10678658 False 1 0;0;100 6.45 False ENSG00000092758 ENSG00000092758 HGNC:2219 CPT2 gene CPT2 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836 16602102 False 1 0;0;100 6.45 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 2, OMIM:608810;Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 21337604 False 1 0;0;100 6.45 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, myofibrillar, 1, OMIM:601419;Scapuloperoneal syndrome, neurogenic, Kaeser type, OMIM:181400 False 1 0;0;100 6.45 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMPK gene DMPK Expert Review Red;UKGTN Congenital myopathy Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 33;0;67 6.45 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJB6 gene DNAJB6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 False 1 0;0;100 6.45 False ENSG00000105993 ENSG00000105993 HGNC:14888 DYSF gene DYSF Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1 254130;Muscular dystrophy, limb-girdle, type 2B 253601;Myopathy, distal, with anterior tibial onset 606768 False 1 0;0;100 6.45 False ENSG00000135636 ENSG00000135636 HGNC:3097 FAM111B gene FAM111B Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, OMIM:615704 24268661 False 1 0;0;100 6.45 False ENSG00000189057 ENSG00000189057 HGNC:24200 FHL1 gene FHL1 Expert Review;Expert Review Red;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) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717;Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 False 1 0;100;0 6.45 False ENSG00000022267 ENSG00000022267 HGNC:3702 GNE gene GNE Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, OMIM:605820 False 1 0;0;100 6.45 False ENSG00000159921 ENSG00000159921 HGNC:23657 HNRNPA1 gene HNRNPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, OMIM:615424 False 1 0;0;100 6.45 False ENSG00000135486 ENSG00000135486 HGNC:5031 HRAS gene HRAS Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Costello syndrome, OMIM:218040;Congenital myopathy with excess of muscle spindles, OMIM:218040 17412879 False 1 0;50;50 6.45 False ENSG00000174775 ENSG00000174775 HGNC:5173 HTRA2 gene HTRA2 Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, OMIM:617248 27208207;27696117 False 1 100;0;0 6.45 False ENSG00000115317 ENSG00000115317 HGNC:14348 ISCU gene ISCU Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 18296749 False 1 0;0;100 6.45 False ENSG00000136003 ENSG00000136003 HGNC:29882 KLHL9 gene KLHL9 London South GLH;NHS GMS Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early onset distal myopathy;Nemaline myopathy 23746549;20554658 False 1 50;25;25 6.45 False ENSG00000198642 ENSG00000198642 HGNC:18732 LDB3 gene LDB3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, OMIM:609452 15668942 False 1 0;0;100 6.45 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI4 gene LGI4 Expert Review Red;Literature;NHS GMS;Other Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect, OMIM:617468 28318499;15857855;16341215 False 1 0;100;0 6.45 False ENSG00000153902 ENSG00000153902 HGNC:18712 MATR3 gene MATR3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 24686783 False 1 0;0;100 6.45 False ENSG00000015479 ENSG00000015479 HGNC:6912 MB gene MB Expert Review Red;Other Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, sarcoplasmic body, OMIM:620286 30918256;35527200;34679218 False 1 33;0;67 6.45 False ENSG00000198125 ENSG00000198125 HGNC:6915 MT-TE gene MT-TE Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637;congenital myopathy, MONDO:0019952 7726155;10392369;15607216;21194154;21931168;33128823 False 1 50;0;50 6.45 False Other ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TK gene MT-TK Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL MERRF syndrome, MONDO:0010790;inborn mitochondrial myopathy, MONDO:0009637 1463006;8228033 False 1 50;0;50 6.45 False Other ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Red;NHS GMS;UKGTN Congenital myopathy Neurology MITOCHONDRIAL MELAS syndrome caused by mutation in MTTL1, MONDO:0800032;inborn mitochondrial myopathy, MONDO:0009637 8122892;8559168;18391161;33484420 False 1 25;0;75 6.45 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TN gene MT-TN Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 8254046;16908752;23696415;31026515 False 1 50;0;50 6.45 False Other ENSG00000210135 ENSG00000210135 HGNC:7493 MT-TW gene MT-TW Expert Review Red;Literature;NHS GMS Congenital myopathy Neurology MITOCHONDRIAL inborn mitochondrial myopathy, MONDO:0009637 9673981;20360171;23841600 False 1 50;0;50 6.45 False Other ENSG00000210117 ENSG00000210117 HGNC:7501 MYF6 gene MYF6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy, Dominant 11053684 False 1 0;50;50 6.45 False ENSG00000111046 ENSG00000111046 HGNC:7566 MYH14 gene MYH14 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 21480433;27875632 False 1 0;50;50 6.45 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH8 gene MYH8 Expert;Expert Review Red;London South GLH;NHS GMS;UKGTN Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trismus-pseudocamptodactyly syndrome, OMIM:158300 17041932;22918376;17434305 False 1 29;14;57 6.45 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYOT gene MYOT Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 3, OMIM:609200;Myopathy, spheroid body, OMIM:182920 15111675 False 1 0;0;100 6.45 False ENSG00000120729 ENSG00000120729 HGNC:12399 PNPLA2 gene PNPLA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 21544567 False 1 33;0;67 6.45 False ENSG00000177666 ENSG00000177666 HGNC:30802 PUS1 gene PUS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 26556812;21686963;25227147 False 1 0;50;50 6.45 False ENSG00000177192 ENSG00000177192 HGNC:15508 RBCK1 gene RBCK1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23798481 False 1 0;50;50 6.45 False ENSG00000125826 ENSG00000125826 HGNC:15864 STIM2 gene STIM2 Expert Review Red;UKGTN Congenital myopathy Neurology Unknown False 1 0;50;50 6.45 False ENSG00000109689 ENSG00000109689 HGNC:19205 TIA1 gene TIA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Welander distal myopathy, OMIM:604454 23401021 False 1 0;0;100 6.45 False ENSG00000116001 ENSG00000116001 HGNC:11802 VCP gene VCP Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, OMIM:167320 False 1 0;0;100 6.45 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS33B gene VPS33B Expert Review;Expert Review Red;London South GLH;NHS GMS Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 15052268;16896922 False 1 67;33;0 6.45 True ENSG00000184056 ENSG00000184056 HGNC:12712 YARS2 gene YARS2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 24344687 False 1 0;50;50 6.45 False ENSG00000139131 ENSG00000139131 HGNC:24249