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 ANO5 gene ANO5 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3, OMIM:613319;Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307 False 1 0;0;100 0.239 False ENSG00000171714 ENSG00000171714 HGNC:27337 ATP2A1 gene ATP2A1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Brody myopathy, OMIM:601003 False 1 0;0;100 0.239 False ENSG00000196296 ENSG00000196296 HGNC:811 BAG3 gene BAG3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6, OMIM:612954 19085932 False 1 0;0;100 0.239 False ENSG00000151929 ENSG00000151929 HGNC:939 CASQ1 gene CASQ1 Expert Review Red;London South GLH;NHS GMS;UCL Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231 30258016;25116801;26136523 False 1 0;67;33 0.239 False ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type, OMIM:614321 False 1 0;0;100 0.239 False ENSG00000182533 ENSG00000182533 HGNC:1529 CHCHD10 gene CHCHD10 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000250479 ENSG00000250479 HGNC:15559 COL4A2 gene COL4A2 Expert Review;Expert Review Red;London South GLH;NHS GMS Congenital muscular dystrophy and congenital myopathy Neurology Unknown 22037604 False 1 0;33;67 0.239 False ENSG00000134871 ENSG00000134871 HGNC:2203 COL9A3 gene COL9A3 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000092758 ENSG00000092758 HGNC:2219 CPT2 gene CPT2 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 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 muscular dystrophy and 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 0.239 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMPK gene DMPK Expert Review Red;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology Other Myotonic dystrophy 1, OMIM:160900 False 1 33;0;67 0.239 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 muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 1, OMIM:603511 False 1 0;0;100 0.239 False ENSG00000105993 ENSG00000105993 HGNC:14888 DUX4 gene DUX4 UKGTN Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral Muscular Dystrophy 1A 28040729;27922500;27816329;27841748;27672539 False 1 0;0;100 0.239 False ENSG00000258389 ENSG00000260596 HGNC:50800 FAM111B gene FAM111B Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000189057 ENSG00000189057 HGNC:24200 GNE gene GNE Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, OMIM:605820 False 1 0;0;100 0.239 False ENSG00000159921 ENSG00000159921 HGNC:23657 HNRNPA1 gene HNRNPA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000135486 ENSG00000135486 HGNC:5031 HRAS gene HRAS Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000174775 ENSG00000174775 HGNC:5173 HTRA2 gene HTRA2 Expert Review Red;Literature;NHS GMS Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII, OMIM:617248 27208207;27696117 False 1 100;0;0 0.239 False ENSG00000115317 ENSG00000115317 HGNC:14348 ISCU gene ISCU Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, OMIM:255125 18296749 False 1 0;0;100 0.239 False ENSG00000136003 ENSG00000136003 HGNC:29882 KLHL9 gene KLHL9 London South GLH;NHS GMS Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early onset distal myopathy;Nemaline myopathy 23746549;20554658 False 1 50;25;25 0.239 False ENSG00000198642 ENSG00000198642 HGNC:18732 LDB3 gene LDB3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 4, OMIM:609452 15668942 False 1 0;0;100 0.239 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI4 gene LGI4 Expert Review Red;Literature;NHS GMS;Other Congenital muscular dystrophy and 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 0.239 False ENSG00000153902 ENSG00000153902 HGNC:18712 MATR3 gene MATR3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 24686783 False 1 0;0;100 0.239 False ENSG00000015479 ENSG00000015479 HGNC:6912 MT-TL1 gene MT-TL1 Expert Review Red;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology MITOCHONDRIAL MELAS syndrome, MONDO:0010789 False 1 0;0;100 0.239 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYF6 gene MYF6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy, Dominant 11053684 False 1 0;50;50 0.239 False ENSG00000111046 ENSG00000111046 HGNC:7566 MYH14 gene MYH14 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000105357 ENSG00000105357 HGNC:23212 MYH8 gene MYH8 Expert;Expert Review Red;London South GLH;NHS GMS;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Trismus-pseudocamptodactyly syndrome, OMIM:158300 17041932;22918376;17434305 False 1 29;14;57 0.239 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYOT gene MYOT Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000120729 ENSG00000120729 HGNC:12399 PABPN1 gene PABPN1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy, OMIM:164300 False 1 0;0;100 0.239 False ENSG00000100836 ENSG00000100836 HGNC:8565 PNPLA2 gene PNPLA2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy, OMIM:610717 21544567 False 1 0;0;100 0.239 False ENSG00000177666 ENSG00000177666 HGNC:30802 PUS1 gene PUS1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 1, OMIM:600462 26556812;21686963;25227147 False 1 0;50;50 0.239 False ENSG00000177192 ENSG00000177192 HGNC:15508 RBCK1 gene RBCK1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23798481 False 1 0;50;50 0.239 False ENSG00000125826 ENSG00000125826 HGNC:15864 SMCHD1 gene SMCHD1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology Other Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901 False 1 0;0;100 0.239 False ENSG00000101596 ENSG00000101596 HGNC:29090 SRPK3 gene SRPK3 London South GLH;NHS GMS Congenital muscular dystrophy and congenital myopathy Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Nemaline myopathy, MONDO:0018958 26799446 False 1 33;33;33 0.239 False ENSG00000184343 ENSG00000184343 HGNC:11402 STIM2 gene STIM2 Expert Review Red;UKGTN Congenital muscular dystrophy and congenital myopathy Neurology Unknown False 1 0;50;50 0.239 False ENSG00000109689 ENSG00000109689 HGNC:19205 SYNE2 gene SYNE2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 False 1 0;0;100 0.239 False ENSG00000054654 ENSG00000054654 HGNC:17084 TIA1 gene TIA1 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Welander distal myopathy, OMIM:604454 23401021 False 1 0;0;100 0.239 False ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Red;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302 False 1 0;0;100 0.239 False ENSG00000170876 ENSG00000170876 HGNC:28472 VCP gene VCP Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and 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 0.239 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS33B gene VPS33B Expert Review;Expert Review Red;London South GLH;NHS GMS Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 15052268;16896922 False 1 67;33;0 0.239 False ENSG00000184056 ENSG00000184056 HGNC:12712 YARS2 gene YARS2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Congenital muscular dystrophy and congenital myopathy Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2, OMIM:613561 24344687 False 1 0;50;50 0.239 False ENSG00000139131 ENSG00000139131 HGNC:24249