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 ACTA1 gene ACTA1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 19562689;15236405 False 3 100;0;0 1.85 True ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 Expert list;Expert Review Amber;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Myopathy 8 (MIM#618654;MONDO: 0032852) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30701273 False 3 50;50;0 1.85 True ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert list;Expert Review Green;Other;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy MONDO:0018958 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 32646962 False 3 100;0;0 1.85 True ENSG00000185100 ENSG00000185100 HGNC:20093 ASCC1 gene ASCC1 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy - MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 (PMID: 30327447;35838082;26924529) False 3 100;0;0 1.85 True ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 Expert Review Green;Literature;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 35047834;21937992 False 3 100;0;0 1.85 True ENSG00000112249 ENSG00000112249 HGNC:18697 ATP6V1A gene ATP6V1A Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IID MIM#617403 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 28065471;33320377 False 3 100;0;0 1.85 True ENSG00000114573 ENSG00000114573 HGNC:851 B3GALNT2 gene B3GALNT2 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 1.85 True ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23359570;23877401 False 3 100;0;0 1.85 True ENSG00000174684 ENSG00000174684 HGNC:15685 BIN1 gene BIN1 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Centronuclear myopathy 2 (MONDO: 0009709;MIM#255200) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17676042;29950440;20476667;20142620;21129173;23754947;25260562;27854204 False 3 100;0;0 1.85 True ENSG00000136717 ENSG00000136717 HGNC:1052 CACNA1S gene CACNA1S Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 28012042;31227654;33060286 False 3 100;0;0 1.85 True ENSG00000081248 ENSG00000081248 HGNC:1397 CAV3 gene CAV3 Expert list;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caveolinopathy MONDO:0016146 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;30174172 False 3 100;0;0 1.85 True Other ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN1 gene CAVIN1 Expert list;Expert Review;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 (MIM#613327) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 19726876;12116229 False 3 100;0;0 1.85 True ENSG00000177469 ENSG00000177469 HGNC:9688 CFL2 gene CFL2 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7 (MONDO:0012538;MIM#610687) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17160903;22560515;32160286 False 3 100;0;0 1.85 True ENSG00000165410 ENSG00000165410 HGNC:1875 CHKB gene CHKB Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM# 602541 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 21665002;23692895;24997086 False 3 100;0;0 1.85 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHST14 gene CHST14 Expert list;Expert Review;Expert Review Amber;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 26373698;20842734;36833362 False 3 50;50;0 1.85 True ENSG00000169105 ENSG00000169105 HGNC:24464 CIAO1 gene CIAO1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38411040;38196629 False 3 100;0;0 1.85 True ENSG00000144021 ENSG00000144021 HGNC:14280 COL12A1 gene COL12A1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2 , MIM# 616470 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 24334604;28973083 False 3 50;50;0 1.85 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL6A1 gene COL6A1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Bethlem myopathy MIM#158810;Ullrich congenital muscular dystrophy MIM#254090 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 1.85 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000163359 ENSG00000163359 HGNC:2213 CSMD1 gene CSMD1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID 38816421 False 3 0;0;0 1.85 True ENSG00000183117 ENSG00000183117 HGNC:14026 DAG1 gene DAG1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818;Walker-Warburg syndrome and tectocerebellar dysgraphia Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 21388311;25934851;24052401;25503980;29337005 False 3 100;0;0 1.85 True ENSG00000173402 ENSG00000173402 HGNC:2666 DHX16 gene DHX16 Expert Review Green;Literature;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuromuscular disease and ocular or auditory anomalies with or without seizures (MIM#618733;MONDO:0032890) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 36211162;37664979;37574199;36211162 False 3 33;33;33 1.85 True ENSG00000204560 ENSG00000204560 HGNC:2739 DMD gene DMD Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy (MIM#310200);Becker muscular dystrophy (MIM#300376) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJB4 gene DNAJB4 Expert Review Green;Literature;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 21 with early respiratory failure (MIM#620326;MONDO:005336) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 36264506 False 3 100;0;0 1.85 True ENSG00000162616 ENSG00000162616 HGNC:14886 DNAJB6 gene DNAJB6 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy 1 (MIM#160150;MONDO:0008048) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17932957;19122038 False 3 100;0;0 1.85 True ENSG00000079805 ENSG00000079805 HGNC:2974 DOLK gene DOLK Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 1.85 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal tubular aggregate myopathy MONDO:0008051 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;38443029;38124360;29356258;24759841 False 3 100;0;0 1.85 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 50;50;0 1.85 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 31266720;28803818;19576565;31266720;31469168 False 3 100;0;0 1.85 True ENSG00000179085 ENSG00000179085 HGNC:3007 DTNA gene DTNA Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, MONDO:0020121, DTNA-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 36799992 False 3 100;0;0 1.85 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134769 ENSG00000134769 HGNC:3057 DYNC1H1 gene DYNC1H1 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600;MONDO:0008026) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 2245967;25609763 False 3 100;0;0 1.85 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYSF gene DYSF Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000135636 ENSG00000135636 HGNC:3097 EMD gene EMD Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Emery-Dreifuss muscular dystrophy 1, X-linked 310300" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 21697856;31802929 False 3 100;0;0 1.85 True ENSG00000102119 ENSG00000102119 HGNC:3331 EPG5 gene EPG5 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici Syndrome (MONDO: 0009452;MIM#242840) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23222957 False 3 100;0;0 1.85 True ENSG00000152223 ENSG00000152223 HGNC:29331 FAM111B gene FAM111B Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 27748098 False 3 100;0;0 1.85 True Other ENSG00000189057 ENSG00000189057 HGNC:24200 FHL1 gene FHL1 Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders 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, MIM# 300717 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 19716112;20186852;20301609;18179901;25274776;34366191;18274675;19181672 False 3 67;33;0 1.85 True ENSG00000022267 ENSG00000022267 HGNC:3702 FILIP1 gene FILIP1 Expert Review;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 36943452;37163662 False 3 50;50;0 1.85 True ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP14 gene FKBP14 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 31132235 False 3 100;0;0 1.85 True ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in FKRP MONDO:0700066 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 1.85 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 9690476;19017726;20301385;28680109 False 3 100;0;0 1.85 True ENSG00000106692 ENSG00000106692 HGNC:3622 FXR1 gene FXR1 Expert Review Green;NHS GMS;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823;MONDO:0032937) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30770808;35393337 False 3 100;0;0 1.85 True ENSG00000114416 ENSG00000114416 HGNC:4023 GGPS1 gene GGPS1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518;Muscular dystrophy;Deafness;Ovarian insufficiency Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 32403198 False 3 100;0;0 1.85 True ENSG00000152904 ENSG00000152904 HGNC:4249 GMPPB gene GMPPB Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000173540 ENSG00000173540 HGNC:22932 GOLGA2 gene GOLGA2 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 30237576;26742501;34424553 False 3 50;50;0 1.85 True ENSG00000167110 ENSG00000167110 HGNC:4425 GOSR2 gene GOSR2 Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 30363482;29855340 False 3 67;0;33 1.85 True ENSG00000108433 ENSG00000108433 HGNC:4431 HACD1 gene HACD1 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 11 (MIM#619967;MONDO:0019952) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 32426512;27939133;33354762;23933735 False 3 50;50;0 1.85 True ENSG00000165996 ENSG00000165996 HGNC:9639 HMGCS1 gene HMGCS1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rigid spine syndrome, MONDO:0019951, HMGCS1-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 39531736 False 3 100;0;0 1.85 True ENSG00000112972 ENSG00000112972 HGNC:5007 INPP4A gene INPP4A Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 39315527 False 3 100;0;0 1.85 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5K gene INPP5K Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000132376 ENSG00000132376 HGNC:33882 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 22522421;23217329;23390185;30060766;28688748;26404900 False 3 100;0;0 1.85 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA7 gene ITGA7 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 34552617;9590299 False 3 100;0;0 1.85 True ENSG00000135424 ENSG00000135424 HGNC:6143 JAG2 gene JAG2 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566;muscular dystrophy Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33861953 False 3 100;0;0 1.85 True ENSG00000184916 ENSG00000184916 HGNC:6189 JPH1 gene JPH1 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 25, MIM# 620964 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 39209426 False 3 100;0;0 1.85 True ENSG00000104369 ENSG00000104369 HGNC:14201 KBTBD13 gene KBTBD13 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy 6, autosomal dominant (MIM# 609273;MONDO:0012237) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 21104864;11731279;21109227 False 3 100;0;0 1.85 True ENSG00000234438 ENSG00000234438 HGNC:37227 KLHL40 gene KLHL40 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23746549 False 3 100;0;0 1.85 True ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy 9 (MIM#615731;MONDO:0014326) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 24268659 False 3 100;0;0 1.85 True ENSG00000239474 ENSG00000239474 HGNC:16905 LAMA2 gene LAMA2 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855;Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30055037 False 3 100;0;0 1.85 True ENSG00000196569 ENSG00000196569 HGNC:6482 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000133424 ENSG00000133424 HGNC:6511 LMNA gene LMNA Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10 (MIM# 616165;MONDO:0014513) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 25250574;28815944;30291184 False 3 100;0;0 1.85 True ENSG00000163380 ENSG00000163380 HGNC:6649 MAP3K20 gene MAP3K20 Expert Review Green;Other;Royal Melbourne Hospital Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760;MONDO:0054695) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 27816943 False 3 100;0;0 1.85 True ENSG00000091436 ENSG00000091436 HGNC:17797 MEGF10 gene MEGF10 Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MEGF10-Related Myopathy MONDO:0013731 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 22101682;22371254;23453856;27460346 False 3 100;0;0 1.85 True ENSG00000145794 ENSG00000145794 HGNC:29634 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, MIM# 615673 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 24336167;29721912;32395406 False 3 100;0;0 1.85 True ENSG00000107745 ENSG00000107745 HGNC:1530 MPDU1 gene MPDU1 Expert Review;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 11733564;11733556;31741824;29721919 False 3 100;0;0 1.85 True ENSG00000129255 ENSG00000129255 HGNC:7207 MSTO1 gene MSTO1 Expert list;Expert Review;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia (MIM#617675) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 28554942;28544275;31604776 False 3 100;0;0 1.85 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTM1 gene MTM1 Expert list;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked myotubular myopathy MONDO:0010683 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30232666;38982518;10790201 False 3 100;0;0 1.85 True ENSG00000171100 ENSG00000171100 HGNC:7448 MYBPC1 gene MYBPC1 Expert Review Green;NHS GMS;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 16 (MIM#618524) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 31264822;31025394 False 3 100;0;0 1.85 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYH2 gene MYH2 Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Myopathy, proximal, and ophthalmoplegia MONDO:0011577 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20418530;15548556;24193343;11114175;23489661;32578970;29934118;28729039;27490141;27177998 False 3 100;0;0 1.85 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYH7 gene MYH7 Expert list;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MYH7-related skeletal myopathy MONDO:0008050 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;15322983 False 3 100;0;0 1.85 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYMK gene MYMK Expert Review;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome MONDO:0009700 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 32333597;30065953 False 3 100;0;0 1.85 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYMX gene MYMX Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome MONDO:0009700 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 35642635 False 3 50;50;0 1.85 True ENSG00000262179 ENSG00000262179 HGNC:52391 MYO18B gene MYO18B Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 25748484;27858739;32637634;32184166;27879346 False 3 100;0;0 1.85 True ENSG00000133454 ENSG00000133454 HGNC:18150 MYOD1 gene MYOD1 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 17 (MIM#618975) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 26733463;31260566;30403323 False 3 100;0;0 1.85 True ENSG00000129152 ENSG00000129152 HGNC:7611 MYPN gene MYPN Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy (MIM#617336;MONDO:0018958) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 28017374 False 3 100;0;0 1.85 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEB gene NEB Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy 2 (MIM#256030;MONDO: 0009725) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 25205138 False 3 100;0;0 1.85 True ENSG00000183091 ENSG00000183091 HGNC:7720 ORAI1 gene ORAI1 Expert Review Green;Literature;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 31448844;38982518 False 3 100;0;0 1.85 True Other ENSG00000182500 ENSG00000276045 HGNC:25896 PAX7 gene PAX7 Expert list;Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 19 (MIM#618578) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 31092906 False 3 100;0;0 1.85 True ENSG00000009709 ENSG00000009709 HGNC:8621 PLEC gene PLEC Expert Review;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20624679;21109228;28824526 False 3 100;0;0 1.85 True ENSG00000178209 ENSG00000178209 HGNC:9069 POMGNT1 gene POMGNT1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, MIM# 615249;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, MIM# 616094 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 32907597;31833209;29910097;28109637;24925318;24556084 False 3 100;0;0 1.85 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders Unknown Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 False ENSG00000009830 ENSG00000009830 HGNC:19743 PYROXD1 gene PYROXD1 Expert list;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 8 MONDO:0014993 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30345904;30515627;27745833 False 3 100;0;0 1.85 True ENSG00000121350 ENSG00000121350 HGNC:26162 RFC4 gene RFC4 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 39106866 False 3 100;0;0 1.85 True ENSG00000163918 ENSG00000163918 HGNC:9972 RYR1 gene RYR1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Central core disease (MIM#117000);Minicore myopathy with external ophthalmoplegia (MIM#255320);Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23553484 False 3 33;33;33 1.85 True ENSG00000196218 ENSG00000196218 HGNC:10483 SELENON gene SELENON Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1 (MIM#602771) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 11528383 False 3 100;0;0 1.85 True ENSG00000162430 ENSG00000162430 HGNC:15999 SIL1 gene SIL1 Expert Review;Expert Review Green Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Marinesco-Sjogren syndrome (MIM#248800)" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 16282977;24176978 False 3 100;0;0 1.85 True ENSG00000120725 ENSG00000120725 HGNC:24624 SLC4A10 gene SLC4A10 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 37459438 False 3 100;0;0 1.85 True ENSG00000144290 ENSG00000144290 HGNC:13811 SNUPN gene SNUPN Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 38413582;PMID: 38366623 False 3 100;0;0 1.85 True ENSG00000169371 ENSG00000169371 HGNC:14245 SPEG gene SPEG Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 25087613;30412272 False 3 100;0;0 1.85 True ENSG00000072195 ENSG00000072195 HGNC:16901 SRPK3 gene SRPK3 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38429495 False 3 100;0;0 1.85 True ENSG00000184343 ENSG00000184343 HGNC:11402 STAC3 gene STAC3 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 13 (MIM#255995) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 28411587;28777491 False 3 100;0;0 1.85 True ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;31448844 False 3 100;0;0 1.85 True Other ENSG00000167323 ENSG00000167323 HGNC:11386 SYNE1 gene SYNE1 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 27782104;19542096 False 3 100;0;0 1.85 True ENSG00000131018 ENSG00000131018 HGNC:17089 TMEM5 gene TMEM5 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23217329;23519211 False 3 100;0;0 1.85 True ENSG00000118600 ENSG00000118600 HGNC:13530 TNNT1 gene TNNT1 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 5 MONDO:0011539;Nemaline myopathy MONDO:0018958 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 10952871;32994279;32819427;31970803;31604653;29931346;29178646 False 3 100;0;0 1.85 True ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy MONDO:0018958 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33977145;29266598;23775847 False 3 100;0;0 1.85 True ENSG00000130595 ENSG00000130595 HGNC:11950 TOR1AIP1 gene TOR1AIP1 Expert list;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072;Progeroid appearance;Cataracts;Microcephaly;Deafness;Contractures Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 24856141;31299614;30723199;27342937;32055997 False 3 100;0;0 1.85 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPM2 gene TPM2 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 4, autosomal dominant (MIM#609285) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17846275;23378224 False 3 100;0;0 1.85 True ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy 4A, autosomal dominant (MIM#255310);Congenital myopathy 4B, autosomal recessive (MIM#609284) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 26418456;18300303;10619715;12196661;18382475 False 3 100;0;0 1.85 True ENSG00000143549 ENSG00000143549 HGNC:12012 TRAPPC11 gene TRAPPC11 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23830518;26322222;29855340;30105108 False 3 100;0;0 1.85 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRDN gene TRDN Expert Review Green;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 28202702;30649896;34415104 False 3 0;0;0 1.85 True ENSG00000186439 ENSG00000186439 HGNC:12261 TRIP4 gene TRIP4 Expert Review Green;NHS GMS;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 27008887;31794073 False 3 100;0;0 1.85 True ENSG00000103671 ENSG00000103671 HGNC:12310 TTN gene TTN Expert Review;Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal TTN-related myopathy MONDO:0100175 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38429495;38982518 False 3 100;0;0 1.85 True ENSG00000155657 ENSG00000155657 HGNC:12403 UNC45B gene UNC45B Expert Review Green;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 False 3 100;0;0 1.85 True ENSG00000141161 ENSG00000141161 HGNC:14304 ALG14 gene ALG14 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518;28733338 False 2 0;100;0 1.85 True ENSG00000172339 ENSG00000172339 HGNC:28287 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23359570;23877401 False 2 0;100;0 1.85 True ENSG00000170340 ENSG00000170340 HGNC:15629 BET1 gene BET1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 34779586 False 2 0;100;0 1.85 True ENSG00000105829 ENSG00000105829 HGNC:14562 CAPN3 gene CAPN3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 1 253600" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 31937337 False 2 50;50;0 1.85 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert list;Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38982518 False 2 0;100;0 1.85 True Other ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert list;Expert Review Amber;Other;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear Myopathy (MIM#614807;MONDO: 0018947) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 22818856 False 2 0;100;0 1.85 True ENSG00000162004 ENSG00000162004 HGNC:14153 CHRNA1 gene CHRNA1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 36634413;38982518 False 2 0;100;0 1.85 True ENSG00000138435 ENSG00000138435 HGNC:1955 CNTN1 gene CNTN1 Expert list;Expert Review Amber;Other;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929;MIM#612540) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 10926398 False 2 0;100;0 1.85 True ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773;Brain small vessel disease with or without ocular anomalies MIM#175780;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23065703;20818663;25719457;21625620;23225343 False 2 50;50;0 1.85 True Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A2 gene COL9A2 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 2 MIM#600204" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20508815;20358595 False 2 0;100;0 1.85 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 10655510 False 2 0;100;0 1.85 True ENSG00000092758 ENSG00000092758 HGNC:2219 COMP gene COMP Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 1 MIM#132400" Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20508815;14684695;15880723 False 2 0;100;0 1.85 True ENSG00000105664 ENSG00000105664 HGNC:2227 DPM2 gene DPM2 Expert Review;Expert Review Amber;Victorian Clinical Genetics Services Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 23109149 False 2 0;100;0 1.85 True ENSG00000136908 ENSG00000136908 HGNC:3006 HRAS gene HRAS Expert Review Amber;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles (MIM#218040) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 17412879 False 2 0;100;0 1.85 True ENSG00000174775 ENSG00000174775 HGNC:5173 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 37503746 False 2 0;100;0 1.85 True ENSG00000165072 ENSG00000165072 HGNC:23673 MTMR14 gene MTMR14 Expert list;Expert Review Amber;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 20400459;20817957;19465920;17008356 False 2 0;100;0 1.85 True ENSG00000163719 ENSG00000163719 HGNC:26190 MYL1 gene MYL1 Expert Review Amber;NHS GMS;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 14 (MIM#618414) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 30215711 False 2 0;100;0 1.85 True ENSG00000168530 ENSG00000168530 HGNC:7582 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 38637313 False 2 0;100;0 1.85 True ENSG00000165912 ENSG00000165912 HGNC:8572 POGLUT1 gene POGLUT1 Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, MONDO:0020121, POGLUT1-related Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33861953 False 2 0;100;0 1.85 True ENSG00000163389 ENSG00000163389 HGNC:22954 TNNC2 gene TNNC2 Expert Review Amber;Expert Review Green;Literature;Other Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 15 (MIM#62016) Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 33755597 False 2 50;50;0 1.85 True ENSG00000101470 ENSG00000101470 HGNC:11944 TUBA4A gene TUBA4A Expert Review Amber;Literature Muscular dystrophy and myopathy_Paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy MONDO:0019952 Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198 PMID: 38413182 False 2 0;100;0 1.85 True ENSG00000127824 ENSG00000127824 HGNC:12407