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 list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, scapulohumeroperoneal 616852" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 28606400;25938801 False 3 100;0;0 1.42 True ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, 6, adult onset MIM#618655 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30900782;34170073;36116040;34471957;34386585 False 3 67;33;0 1.42 True Other ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 26506222;28268051;34635388;32646962 False 3 100;0;0 1.42 True ENSG00000185100 ENSG00000185100 HGNC:20093 ANO5 gene ANO5 Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2L, 611307;Miyoshi muscular dystrophy 3, 613319 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20096397;32399949 False 3 100;0;0 1.42 True ENSG00000171714 ENSG00000171714 HGNC:27337 BAG3 gene BAG3 Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 612954 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 25208129;22734908;30061062 False 3 100;0;0 1.42 True ENSG00000151929 ENSG00000151929 HGNC:939 BICD2 gene BICD2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27784775;28635954;31561939;29306765 False 3 100;0;0 1.42 True ENSG00000185963 ENSG00000185963 HGNC:17208 BVES gene BVES Expert list;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 26642364 32528171 31119192 False 3 100;0;0 1.42 True ENSG00000112276 ENSG00000112276 HGNC:1152 CAPN3 gene CAPN3 Expert Review Green;Literature;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal dominant 4, MIM# 618129;Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31937337;28881388;32342993;32557990 False 3 100;0;0 1.42 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates 616231 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 26136523;30258016 False 3 100;0;0 1.42 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type 614321;Rippling muscle disease 2 606072 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 27312022;26185955;32090499 False 3 50;50;0 1.42 True ENSG00000182533 ENSG00000182533 HGNC:1529 CHRNA1 gene CHRNA1 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 36634413 False 3 100;0;0 1.42 True ENSG00000138435 ENSG00000138435 HGNC:1955 COL6A1 gene COL6A1 Expert list;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy 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 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 1.42 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert list;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Bethlem myopathy 1 MIM#158810;Ullrich congenital muscular dystrophy 1 MIM#254090 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301676 False 3 100;0;0 1.42 True ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert list;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Bethlem myopathy 1 MIM#158810;Ullrich congenital muscular dystrophy 1 MIM#254090 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301676;26004199;32037012;26872670;32037012 False 3 100;0;0 1.42 True ENSG00000163359 ENSG00000163359 HGNC:2213 DAG1 gene DAG1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 21388311;25934851;24052401;25503980 False 3 100;0;0 1.42 True ENSG00000173402 ENSG00000173402 HGNC:2666 DES gene DES Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Myopathy, myofibrillar, 1 601419 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 20718792 False 3 50;50;0 1.42 True ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy 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) Duchenne muscular dystrophy 310200;Becker muscular dystrophy 300376 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301298 False 3 100;0;0 1.42 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJB4 gene DNAJB4 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy MONDO:0018949;Myopathy, MONDO:0005336, DNAJB4-related Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 36512060;36264506 False 3 100;0;0 1.42 True ENSG00000162616 ENSG00000162616 HGNC:14886 DNAJB6 gene DNAJB6 Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, type 1E, 603511 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 26847086;26338452;24170373 False 3 100;0;0 1.42 True ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant centronuclear myopathy MONDO:0008048 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 16227997;33458580;30232666;24465259;23938035 False 3 100;0;0 1.42 True ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 10 254300" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31453852;32360404;31561939;31449669 False 3 100;0;0 1.42 True ENSG00000175920 ENSG00000175920 HGNC:26594 DPM3 gene DPM3 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 19576565;28803818;31266720 False 3 100;0;0 1.42 True ENSG00000179085 ENSG00000179085 HGNC:3007 DYSF gene DYSF Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, distal, with anterior tibial onset, 606768;Miyoshi muscular dystrophy 1, 254130;Muscular dystrophy, limb-girdle, type 2B, 253601 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23243261 False 3 100;0;0 1.42 True ENSG00000135636 ENSG00000135636 HGNC:3097 EMD gene EMD Expert list;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy 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) Emery-Dreifuss muscular dystrophy 1, X-linked 310300 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 21697856;31802929 False 3 100;0;0 1.42 True ENSG00000102119 ENSG00000102119 HGNC:3331 FHL1 gene FHL1 Expert list;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy 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 MONDO:0019948;X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 19716112;20186852;20301609;18179901;25274776;34366191;18274675;19181672 False 3 67;33;0 1.42 True ENSG00000022267 ENSG00000022267 HGNC:3702 FKRP gene FKRP Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Limb-girdle muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 1.42 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800;Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588;Cardiomyopathy, dilated, 1X, 611615 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 9690476;19017726;20301385;28680109 False 3 100;0;0 1.42 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLNC gene FLNC Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, familial restrictive 5 617047;Myopathy, distal, 4 614065;Myopathy, myofibrillar, 5 609524" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 29858533 False 3 100;0;0 1.42 True Other ENSG00000128591 ENSG00000128591 HGNC:3756 GAA gene GAA Expert list;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 29880332 False 3 100;0;0 1.42 True ENSG00000171298 ENSG00000171298 HGNC:4065 GFPT1 gene GFPT1 Expert list;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates MIM#610542;Limb-girdle congenital myasthenic syndrome Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 28712002;29905857;31449669 False 3 100;0;0 1.42 True ENSG00000198380 ENSG00000198380 HGNC:4241 GMPPB gene GMPPB Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy (MIM#605820) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 22883483;20301439 False 3 50;50;0 1.42 True ENSG00000159921 ENSG00000159921 HGNC:23657 GYG1 gene GYG1 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 2, MIM# 616199;Glycogen storage disease XV , MIM# 613507 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 29422440;32477874;32528171 False 3 100;0;0 1.42 True ENSG00000163754 ENSG00000163754 HGNC:4699 HMGCR gene HMGCR Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 37167966;36745799 False 3 50;0;50 1.42 True ENSG00000113161 ENSG00000113161 HGNC:5006 HNRNPA1 gene HNRNPA1 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, 3, MIM# 610099;inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23455423;27066560;34291734;34722876 False 3 100;0;0 1.42 True Other ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA2B1 gene HNRNPA2B1 Expert Review Green;Literature;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23455423;30279180;29358076;26744327;23635965;35484142 False 3 33;67;0 1.42 True ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPDL gene HNRNPDL Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, type 1G 609115 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24647604;31267206;31995753;32407983;32904822;32367994 False 3 100;0;0 1.42 True ENSG00000152795 ENSG00000152795 HGNC:5037 HSPB8 gene HSPB8 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078;autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32165108;26718575;31403083;28780615 False 3 100;0;0 1.42 True Other ENSG00000152137 ENSG00000152137 HGNC:30171 ISPD gene ISPD Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23390185;30060766;28688748;26404900 False 3 100;0;0 1.42 True ENSG00000214960 ENSG00000214960 HGNC:37276 JAG2 gene JAG2 Expert Review Green;Literature;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 33861953 False 3 100;0;0 1.42 True ENSG00000184916 ENSG00000184916 HGNC:6189 KY gene KY Expert Review Green;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7 (MIM#617114) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27484770;27485408;30591934;11136708 False 3 100;0;0 1.42 True ENSG00000174611 ENSG00000174611 HGNC:26576 LAMA2 gene LAMA2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy 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 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30055037 False 3 100;0;0 1.42 True ENSG00000196569 ENSG00000196569 HGNC:6482 LDB3 gene LDB3 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myofibrillar myopathy 4 MONDO:0012277 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24668811;27546599;25911362 False 3 100;0;0 1.42 True Other ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27220833;23746545;17377071 False 3 0;100;0 1.42 True Other ENSG00000160789 ENSG00000160789 HGNC:6636 MATR3 gene MATR3 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy with vocal cord weakness MONDO:0018951 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 19344878;34659085;25154462;31056746 False 3 100;0;0 1.42 True Other ENSG00000015479 ENSG00000015479 HGNC:6912 MB gene MB Expert Review Green;Literature;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, sarcoplasmic body MIM#620286 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 35527200;30918256 False 3 100;0;0 1.42 True ENSG00000198125 ENSG00000198125 HGNC:6915 MTM1 gene MTM1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked, 310400 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000171100 ENSG00000171100 HGNC:7448 MYH7 gene MYH7 Expert list;Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Laing distal myopathy (MIM#160500);Scapuloperoneal syndrome, myopathic type (MIM#181430) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27387980;20733148 False 3 50;50;0 1.42 True Other ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23365102;9673982 False 3 100;0;0 1.42 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYOT gene MYOT Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, myofibrillar, 3 (MIM#609200)" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30055862;21336781;15947064;10958653;15111675;16380616;33250842;32509353;29924655 False 3 0;100;0 1.42 True ENSG00000120729 ENSG00000120729 HGNC:12399 NEB gene NEB Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal distal myopathy MONDO:0018949 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 21724397;17525139;33458580;25205138 False 3 75;25;0 1.42 True ENSG00000183091 ENSG00000183091 HGNC:7720 ORAI1 gene ORAI1 Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2 (MIM#615883) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31448844 False 3 33;67;0 1.42 True ENSG00000182500 ENSG00000276045 HGNC:25896 PABPN1 gene PABPN1 Expert Review Green;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal oculopharyngeal muscular dystrophy MONDO:0008116 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 19080757;33805441;16648376 False 3 100;0;0 1.42 True ENSG00000100836 ENSG00000100836 HGNC:8565 PLEC gene PLEC Expert Review;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy with epidermolysis bullosa simplex, 226670 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 22144912 False 3 100;0;0 1.42 True ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA2 gene PNPLA2 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neutral lipid storage disease with myopathy 610717" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 32269696;21544567 False 3 100;0;0 1.42 True ENSG00000177666 ENSG00000177666 HGNC:30802 POGLUT1 gene POGLUT1 Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27807076;29034878;31897643 False 3 67;33;0 1.42 True ENSG00000163389 ENSG00000163389 HGNC:22954 POMGNT1 gene POMGNT1 Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27391550;26908613;30961548;30937090 False 3 100;0;0 1.42 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMT1 gene POMT1 Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000009830 ENSG00000009830 HGNC:19743 POPDC3 gene POPDC3 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31610034 False 3 100;0;0 1.42 True ENSG00000132429 ENSG00000132429 HGNC:17649 PYROXD1 gene PYROXD1 Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, 617258;adult-onset limb girdle muscular dystrophy Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30345904;30515627;27745833 False 3 0;100;0 1.42 True ENSG00000121350 ENSG00000121350 HGNC:26162 RYR1 gene RYR1 Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal calf predominant distal myopathy;distal myopathy MONDO:0018949 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30842289;33458580 False 3 100;0;0 1.42 True ENSG00000196218 ENSG00000196218 HGNC:10483 SGCA gene SGCA Expert Review;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Limb-girdle muscular dystrophy;Muscular dystrophy, limb-girdle, type 2D, 608099;autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30007747;9192266;34404573 False 3 100;0;0 1.42 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2E, 604286 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2F, 601287 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 67;0;33 1.42 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert Review;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2C, 253700 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 30838351;25802879 False 3 100;0;0 1.42 True ENSG00000102683 ENSG00000102683 HGNC:10809 SMCHD1 gene SMCHD1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301616 False 3 100;0;0 1.42 True ENSG00000101596 ENSG00000101596 HGNC:29090 SMPX gene SMPX Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 33974137 False 3 100;0;0 1.42 True Other ENSG00000091482 ENSG00000091482 HGNC:11122 SNUPN gene SNUPN Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 38413582;PMID: 38366623 False 3 100;0;0 1.42 True ENSG00000169371 ENSG00000169371 HGNC:14245 STIM1 gene STIM1 Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, tubular aggregate, 1 (MIM#160565);Stormorken syndrome (MIM#185070)" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31448844 False 3 67;33;0 1.42 True Other ENSG00000167323 ENSG00000167323 HGNC:11386 SYNE1 gene SYNE1 Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000131018 ENSG00000131018 HGNC:17089 TCAP gene TCAP Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2G, 601954 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 25055047;22029105;18948002 False 3 100;0;0 1.42 True ENSG00000173991 ENSG00000173991 HGNC:11610 TNPO3 gene TNPO3 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23667635;23543484;31071488;31192305 False 3 100;0;0 1.42 True Other ENSG00000064419 ENSG00000064419 HGNC:17103 TRAPPC11 gene TRAPPC11 Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2S, 615356 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23830518;26322222;29855340;30105108 False 3 100;0;0 1.42 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRIM32 gene TRIM32 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H, 254110 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 50;0;50 1.42 False ENSG00000119401 ENSG00000119401 HGNC:16380 TTN gene TTN Expert Review;Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy;Distal myopathy;HMERF;Myofibrillar myopathy;Congenital myopathy;Muscular dystrophy, limb-girdle, type 2J, 608807;arthrogryposis Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 100;0;0 1.42 False ENSG00000155657 ENSG00000155657 HGNC:12403 UNC45B gene UNC45B Expert Review Green;Literature;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 11 (MIM#619178) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 33217308;31852522 False 3 100;0;0 1.42 True ENSG00000141161 ENSG00000141161 HGNC:14304 VCP gene VCP Expert Review Green;Royal Melbourne Hospital Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 False 3 0;0;0 1.42 False ENSG00000165280 ENSG00000165280 HGNC:12666 VMA21 gene VMA21 Expert Review;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy 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) Myopathy, X-linked, with excessive autophagy (MIM#310440) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27916343;25809233;23315026 False 3 0;100;0 1.42 True ENSG00000160131 ENSG00000160131 HGNC:22082 VPS13A gene VPS13A Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal chorea-acanthocytosis MONDO:0008695 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 33652783;20301561 False 3 100;0;0 1.42 True ENSG00000197969 ENSG00000197969 HGNC:1908 ACADVL gene ACADVL Expert list;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 1.42 True ENSG00000072778 ENSG00000072778 HGNC:92 ANXA11 gene ANXA11 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 34048612 False 2 0;100;0 1.42 True ENSG00000122359 ENSG00000122359 HGNC:535 CHKB gene CHKB Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 37011121 False 2 50;50;0 1.42 True ENSG00000100288 ENSG00000100288 HGNC:1938 CRYAB gene CRYAB Expert list;Expert Review;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 21337604;32420686 False 2 25;75;0 1.42 True ENSG00000109846 ENSG00000109846 HGNC:2389 DNMT3B gene DNMT3B Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27153398;33004076 False 2 50;50;0 1.42 True ENSG00000088305 ENSG00000088305 HGNC:2979 ETFDH gene ETFDH Expert list;Expert Review Amber;Expert Review Green Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 PMID: 19592060;17412732 False 2 50;50;0 1.42 True ENSG00000171503 ENSG00000171503 HGNC:3483 KLHL9 gene KLHL9 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20554658 False 2 0;100;0 1.42 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMP2 gene LAMP2 Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy 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) Danon disease (MIM#300257) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 27179547;22541782 False 2 50;50;0 1.42 True ENSG00000005893 ENSG00000005893 HGNC:6501 LPIN1 gene LPIN1 Expert list;Expert Review;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 28649549;18817903;32410653 False 2 67;33;0 1.42 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32467133 False 2 0;100;0 1.42 True ENSG00000121931 ENSG00000121931 HGNC:30299 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 37503746 False 2 0;100;0 1.42 True ENSG00000165072 ENSG00000165072 HGNC:23673 PFKM gene PFKM Expert Review;Expert Review Amber Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24427140;27066546;30792690 False 2 0;100;0 1.42 True ENSG00000152556 ENSG00000152556 HGNC:8877 POMK gene POMK Expert Review Amber;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 24556084;24925318;29910097 False 2 50;50;0 1.42 True ENSG00000185900 ENSG00000185900 HGNC:26267 PYGM gene PYGM Expert Review;Expert Review Amber Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 29143597;25914343 False 2 0;100;0 1.42 True ENSG00000068976 ENSG00000068976 HGNC:9726 SQSTM1 gene SQSTM1 Expert list;Expert Review Amber;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 29599744;26208961;29457785 False 2 33;33;33 1.42 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SVIL gene SVIL Expert Review Amber;Literature;Other Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32779703 False 2 0;100;0 1.42 True ENSG00000197321 ENSG00000197321 HGNC:11480 TIA1 gene TIA1 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 23401021 False 2 0;100;0 1.42 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Amber;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 21391237;30311943 False 2 0;100;0 1.42 True ENSG00000170876 ENSG00000170876 HGNC:28472 DM1 str DMPK Expert Review Green;Expert list Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 MIM#160900 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 20301344;29325606 False 3 100;0;0 1.42 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 34 50 MRUPAV str PLIN4 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32451610;37145156;36151849;35499779 False 3 100;0;0 1.42 True ENSG00000167676 ENSG00000167676 HGNC:29393 19 4510975 4511073 4510963 4511061 ACTGAAGACAGTGTCCTTGGTACCCATAAGCACAGCCTTGGAGGCGTCCACGCCGGTCTGCACGGTTCCTTTGGCCACATTCACTGCCCCCGTGACTCC 31 39 NIID str NOTCH2NL Expert Review Green;Expert list Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal intranuclear inclusion disease MIM#603472;Oculopharyngodistal myopathy 3 MIM#619473;Tremor, hereditary essential, 6 MIM#618866 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 1.42 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 OPDM1 str LRP12 Expert Review Green;Expert list Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 1 MIM#164310 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 31332380;34047774 False 3 100;0;0 1.42 True ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 45 85 OPDM2 str GIPC1 Expert Review Green;Expert list Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 2 MIM#618940 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 32413282;33374016 False 3 100;0;0 1.42 True ENSG00000123159 ENSG00000123159 HGNC:1226 19 14606854 14606886 14496042 14496074 CGG 32 70 OPDM4_RILPL1_CGG str RILPL1 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy MONDO:0025193 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 35148830 False 3 100;0;0 1.42 True ENSG00000188026 ENSG00000188026 HGNC:26814 12 124018270 124018296 123533723 123533749 CGG 16 139 OPDM_ABCD3_GCC str ABCD3 Expert Review Green;Literature Limb-Girdle Muscular Dystrophy and Distal Myopathy Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy MONDO:0025193 Limb-girdle muscular dystrophy;MONDO:0016971; Proximal muscle weakness;HP:0003701; Distal myopathy MONDO:0018949 39068203 False 3 100;0;0 1.42 True ENSG00000117528 ENSG00000117528 HGNC:67 1 94883977 94883998 94418421 94418442 GCC 50 118