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 AARS2 gene AARS2 Expert Review Green;Other;Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8 MIM#614096 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21549344;25058219 False 3 100;0;0 4.165 True ENSG00000124608 ENSG00000124608 HGNC:21022 ABHD5 gene ABHD5 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Dorfman-Chanarin disease MONDO:0010155 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31883530 False 3 100;0;0 4.165 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD9 gene ACAD9 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency 611126 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30025539 False 3 100;0;0 4.165 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of 201450;Rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency 201475 Myopathy;HP:0003198; Muscle weakness;HP:0001324 9546340;24263034 False 3 100;0;0 4.165 True ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800 Myopathy;HP:0003198; Muscle weakness;HP:0001324 19562689;15236405 False 3 100;0;0 4.165 True ENSG00000143632 ENSG00000143632 HGNC:129 ACTA1 gene ACTA1 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, scapulohumeroperoneal 616852" Myopathy;HP:0003198; Muscle weakness;HP:0001324 28606400;25938801 False 3 100;0;0 4.165 True ENSG00000143632 ENSG00000143632 HGNC:129 ACTN2 gene ACTN2 Expert Review Green;Other;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Myopathy 8 (MIM#618654;MONDO: 0032852) Myopathy;HP:0003198; Muscle weakness;HP:0001324 30701273 False 3 50;50;0 4.165 True ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 Expert Review Green;Literature;Expert Review Amber;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, 6, adult onset MIM#618655 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30900782;34170073;36116040;34471957;34386585 False 3 67;33;0 4.165 True Other ENSG00000077522 ENSG00000077522 HGNC:164 ADSSL1 gene ADSSL1 Expert Review Green;Other;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy MONDO:0018958 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32646962 False 3 100;0;0 4.165 True ENSG00000185100 ENSG00000185100 HGNC:20093 ADSSL1 gene ADSSL1 Expert Review Green;Literature;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26506222;28268051;34635388;32646962 False 3 100;0;0 4.165 True ENSG00000185100 ENSG00000185100 HGNC:20093 AGK gene AGK Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sengers Syndrome (MIM#212350;MONDO:0008922) Myopathy;HP:0003198; Muscle weakness;HP:0001324 22284826 False 3 100;0;0 4.165 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa 232400;Glycogen storage disease IIIb 232400 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301788 False 3 100;0;0 4.165 True ENSG00000162688 ENSG00000162688 HGNC:321 AHCY gene AHCY Expert Review Green;Expert Review Green;Expert list;Expert list;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 Myopathy;HP:0003198; Muscle weakness;HP:0001324 28779239;15024124;30121674 False 3 100;0;0 4.165 True ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 Expert Review Green;Other;Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816);Encephalamyopathy, Mitochondrial, X-Linked Myopathy;HP:0003198; Muscle weakness;HP:0001324 20362274;22019070;26173962 False 3 100;0;0 4.165 True ENSG00000156709 ENSG00000156709 HGNC:8768 ALDOA gene ALDOA Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII 611881 Myopathy;HP:0003198; Muscle weakness;HP:0001324 8598869;25392908;14615364 False 3 100;0;0 4.165 True ENSG00000149925 ENSG00000149925 HGNC:414 ANO5 gene ANO5 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 3 613319;Muscular dystrophy, limb-girdle, type 2L 611307 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23193613 False 3 100;0;0 4.165 True ENSG00000171714 ENSG00000171714 HGNC:27337 ANO5 gene ANO5 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2L, 611307;Miyoshi muscular dystrophy 3, 613319 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20096397;32399949 False 3 100;0;0 4.165 True ENSG00000171714 ENSG00000171714 HGNC:27337 ASCC1 gene ASCC1 Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy - MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 (PMID: 30327447;35838082;26924529) False 3 100;0;0 4.165 True ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 Expert Review Green;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, MIM# 620700 Myopathy;HP:0003198; Muscle weakness;HP:0001324 35047834;21937992 False 3 100;0;0 4.165 True ENSG00000112249 ENSG00000112249 HGNC:18697 ATP2A1 gene ATP2A1 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy, MIM# 601003 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32040565 False 3 50;50;0 4.165 True ENSG00000196296 ENSG00000196296 HGNC:811 ATP2A1 gene ATP2A1 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy 601003 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32040565 False 3 100;0;0 4.165 True ENSG00000196296 ENSG00000196296 HGNC:811 ATP6V1A gene ATP6V1A Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IID MIM#617403 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 28065471;33320377 False 3 100;0;0 4.165 True ENSG00000114573 ENSG00000114573 HGNC:851 B3GALNT2 gene B3GALNT2 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 4.165 True ENSG00000162885 ENSG00000162885 HGNC:28596 B4GAT1 gene B4GAT1 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23359570;23877401 False 3 100;0;0 4.165 True ENSG00000174684 ENSG00000174684 HGNC:15685 BAG3 gene BAG3 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, myofibrillar, 6 612954 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 25208129;22734908;30061062 False 3 100;0;0 4.165 True ENSG00000151929 ENSG00000151929 HGNC:939 BICD2 gene BICD2 Expert Review Green;Expert list;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27784775;28635954;31561939;29306765 False 3 100;0;0 4.165 True ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17676042;29950440;20476667;20142620;21129173;23754947;25260562;27854204 False 3 100;0;0 4.165 True ENSG00000136717 ENSG00000136717 HGNC:1052 BVES gene BVES Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26642364 32528171 31119192 False 3 100;0;0 4.165 True ENSG00000112276 ENSG00000112276 HGNC:1152 C1QBP gene C1QBP Expert Review Green;Literature;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive external opthalmoplegia;mitochondrial myopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 32652806;28942965 False 3 100;0;0 4.165 True ENSG00000108561 ENSG00000108561 HGNC:1243 CACNA1S gene CACNA1S Expert Review Green;Expert list;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 28012042;31227654;33060286 False 3 100;0;0 4.165 True ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA1S gene CACNA1S Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant hyperthermia susceptibility type 5;Hypokalemic periodic paralysis, type 1, 170400 Myopathy;HP:0003198; Muscle weakness;HP:0001324 8004673;11591859 False 3 100;0;0 4.165 True ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA1S gene CACNA1S Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Malignant hyperthermia susceptibility 5}, 601887 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301325;28011884 False 3 100;0;0 4.165 True Other ENSG00000081248 ENSG00000081248 HGNC:1397 CACNA1S gene CACNA1S Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Malignant hyperthermia susceptibility 5} MIM#601887 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301325 False 3 100;0;0 4.165 True Other ENSG00000081248 ENSG00000081248 HGNC:1397 CAPN3 gene CAPN3 Expert Review Green;Literature;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31937337;28881388;32342993;32557990 False 3 100;0;0 4.165 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert Review Green;Expert list;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, vacuolar, with CASQ1 aggregates MIM#616231 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30258016 False 3 67;33;0 4.165 True ENSG00000143318 ENSG00000143318 HGNC:1512 CASQ1 gene CASQ1 Expert Review Green;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates 616231 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 26136523;30258016 False 3 100;0;0 4.165 True ENSG00000143318 ENSG00000143318 HGNC:1512 CAV3 gene CAV3 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, distal, Tateyama type 614321;Rippling muscle disease 2 606072 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 27312022;26185955;32090499 False 3 50;50;0 4.165 True ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 Expert Review Green;Literature;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Caveolinopathy MONDO:0016146 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;30174172 False 3 100;0;0 4.165 True Other ENSG00000182533 ENSG00000182533 HGNC:1529 CAV3 gene CAV3 Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type IC 607801;Rippling muscle disease 606072;Myopathy, distal, Tateyama type 614321 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN1 gene CAVIN1 Expert Review Green;Expert list;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 (MIM#613327) Myopathy;HP:0003198; Muscle weakness;HP:0001324 19726876;12116229 False 3 100;0;0 4.165 True ENSG00000177469 ENSG00000177469 HGNC:9688 CFL2 gene CFL2 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7 (MONDO:0012538;MIM#610687) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17160903;22560515;32160286 False 3 100;0;0 4.165 True ENSG00000165410 ENSG00000165410 HGNC:1875 CHCHD10 gene CHCHD10 Expert Review Green;Literature;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30874923;29112723;25193783;24934289 False 3 100;0;0 4.165 True Other ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB Expert Review Green;Expert Review;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM# 602541 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21665002;23692895;24997086 False 3 100;0;0 4.165 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA1 gene CHRNA1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156 Myopathy;HP:0003198; Muscle weakness;HP:0001324 36634413 False 3 100;0;0 4.165 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHST14 gene CHST14 Expert Review Green;Expert list;Expert Review Amber;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26373698;20842734;36833362 False 3 50;50;0 4.165 True ENSG00000169105 ENSG00000169105 HGNC:24464 CIAO1 gene CIAO1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38411040;38196629 False 3 100;0;0 4.165 True ENSG00000144021 ENSG00000144021 HGNC:14280 CLCN1 gene CLCN1 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, dominant, 160800;Hyperkalemic Periodic Paralysis;Myotonia Congenita;Myotonia;Myotonia congenita, recessive, 255700;Myotonia levior, recessive Myopathy;HP:0003198; Muscle weakness;HP:0001324 1379744;7981750;8533761 False 3 100;0;0 4.165 True ENSG00000188037 ENSG00000188037 HGNC:2019 COL12A1 gene COL12A1 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ullrich congenital muscular dystrophy 2 , MIM# 616470 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24334604;28973083 False 3 50;50;0 4.165 True ENSG00000111799 ENSG00000111799 HGNC:2188 COL6A1 gene COL6A1 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 4.165 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A1 gene COL6A1 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301676;25535305;15955946;23738969;29277723;24443028 False 3 100;0;0 4.165 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301676 False 3 100;0;0 4.165 True ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A2 gene COL6A2 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL6A3 gene COL6A3 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301676;26004199;32037012;26872670;32037012 False 3 100;0;0 4.165 True ENSG00000163359 ENSG00000163359 HGNC:2213 COQ8A gene COQ8A Expert Review Green;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 MIM#612016 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32337771 False 3 100;0;0 4.165 True ENSG00000163050 ENSG00000163050 HGNC:16812 CPT2 gene CPT2 Expert Review Green;Expert list;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000157184 ENSG00000157184 HGNC:2330 CSMD1 gene CSMD1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID 38816421 False 3 0;0;0 4.165 True ENSG00000183117 ENSG00000183117 HGNC:14026 DAG1 gene DAG1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21388311;25934851;24052401;25503980 False 3 100;0;0 4.165 True ENSG00000173402 ENSG00000173402 HGNC:2666 DAG1 gene DAG1 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21388311;25934851;24052401;25503980;29337005 False 3 100;0;0 4.165 True ENSG00000173402 ENSG00000173402 HGNC:2666 DES gene DES Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Myopathy, myofibrillar, 1 601419 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 20718792 False 3 50;50;0 4.165 True ENSG00000175084 ENSG00000175084 HGNC:2770 DGUOK gene DGUOK Expert Review Green;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880;Portal hypertension, noncirrhotic, 1, MIM# 617068;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070 Myopathy;HP:0003198; Muscle weakness;HP:0001324 11687800;12874104;15887277;23043144;26874653 False 3 50;0;50 4.165 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHX16 gene DHX16 Expert Review Green;Other;Literature Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 36211162;37664979;37574199;36211162 False 3 33;33;33 4.165 True ENSG00000204560 ENSG00000204560 HGNC:2739 DMD gene DMD Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301298 False 3 100;0;0 4.165 True ENSG00000198947 ENSG00000198947 HGNC:2928 DMD gene DMD Expert Review Green;Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy (MIM#310200);Becker muscular dystrophy (MIM#300376) Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000198947 ENSG00000198947 HGNC:2928 DMD gene DMD Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel 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) Becker muscular dystrophy 300376 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301298 False 3 100;0;0 4.165 True ENSG00000198947 ENSG00000198947 HGNC:2928 DNA2 gene DNA2 Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31636600;23352259;25635128;28554558 False 3 50;50;0 4.165 True ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJB4 gene DNAJB4 Expert Review Green;Literature;Literature;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy MONDO:0018949;Myopathy, MONDO:0005336, DNAJB4-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 36512060;36264506 False 3 100;0;0 4.165 True ENSG00000162616 ENSG00000162616 HGNC:14886 DNAJB4 gene DNAJB4 Expert Review Green;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 21 with early respiratory failure (MIM#620326;MONDO:005336) Myopathy;HP:0003198; Muscle weakness;HP:0001324 36264506 False 3 100;0;0 4.165 True ENSG00000162616 ENSG00000162616 HGNC:14886 DNAJB6 gene DNAJB6 Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000105993 ENSG00000105993 HGNC:14888 DNAJB6 gene DNAJB6 Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, type 1E, 603511 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26847086;26338452;24170373 False 3 100;0;0 4.165 True ENSG00000105993 ENSG00000105993 HGNC:14888 DNM2 gene DNM2 Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Centronuclear Myopathy 1 (MIM#160150;MONDO:0008048) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17932957;19122038 False 3 100;0;0 4.165 True ENSG00000079805 ENSG00000079805 HGNC:2974 DNM2 gene DNM2 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant centronuclear myopathy MONDO:0008048 Myopathy;HP:0003198; Muscle weakness;HP:0001324 16227997;33458580;30232666;24465259;23938035 False 3 100;0;0 4.165 True ENSG00000079805 ENSG00000079805 HGNC:2974 DOK7 gene DOK7 Expert Review Green;Expert list;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 10 254300" Myopathy;HP:0003198; Muscle weakness;HP:0001324 31453852;32360404;31561939;31449669 False 3 100;0;0 4.165 True ENSG00000175920 ENSG00000175920 HGNC:26594 DOLK gene DOLK Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 Myopathy;HP:0003198; Muscle weakness;HP:0001324 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 4.165 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal tubular aggregate myopathy MONDO:0008051 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;38443029;38124360;29356258;24759841 False 3 100;0;0 4.165 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 50;50;0 4.165 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31266720;28803818;19576565;31266720;31469168 False 3 100;0;0 4.165 True ENSG00000179085 ENSG00000179085 HGNC:3007 DPM3 gene DPM3 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 MIM#612937" Myopathy;HP:0003198; Muscle weakness;HP:0001324 19576565;28803818;31266720 False 3 100;0;0 4.165 True ENSG00000179085 ENSG00000179085 HGNC:3007 DTNA gene DTNA Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, MONDO:0020121, DTNA-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 36799992 False 3 100;0;0 4.165 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 DTNA gene DTNA Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, MONDO:0020121, DTNA-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 36799992 False 3 50;50;0 4.165 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 Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600;MONDO:0008026) Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 2245967;25609763 False 3 100;0;0 4.165 True ENSG00000197102 ENSG00000197102 HGNC:2961 DYSF gene DYSF Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23243261 False 3 100;0;0 4.165 True ENSG00000135636 ENSG00000135636 HGNC:3097 DYSF gene DYSF Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2B 253601;Myopathy, distal, with anterior tibial onset 606768;Miyoshi muscular dystrophy 1 254130 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32978841;27602406 False 3 100;0;0 4.165 True ENSG00000135636 ENSG00000135636 HGNC:3097 DYSF gene DYSF Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000135636 ENSG00000135636 HGNC:3097 EMD gene EMD Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21697856;31802929 False 3 100;0;0 4.165 True ENSG00000102119 ENSG00000102119 HGNC:3331 EMD gene EMD Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Emery-Dreifuss muscular dystrophy 1, X-linked 310300" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 21697856;31802929 False 3 100;0;0 4.165 True ENSG00000102119 ENSG00000102119 HGNC:3331 ENO3 gene ENO3 Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII 612932 Myopathy;HP:0003198; Muscle weakness;HP:0001324 11506403;31741825;25267339 False 3 100;0;0 4.165 True ENSG00000108515 ENSG00000108515 HGNC:3354 EPG5 gene EPG5 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Vici Syndrome (MONDO: 0009452;MIM#242840) Myopathy;HP:0003198; Muscle weakness;HP:0001324 23222957 False 3 100;0;0 4.165 True ENSG00000152223 ENSG00000152223 HGNC:29331 ETFA gene ETFA Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA 231680 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21347544;1430199 False 3 100;0;0 4.165 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFDH gene ETFDH Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC 231680 Myopathy;HP:0003198; Muscle weakness;HP:0001324 17412732;27038534 False 3 100;0;0 4.165 True ENSG00000171503 ENSG00000171503 HGNC:3483 FAM111B gene FAM111B Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27748098 False 3 100;0;0 4.165 True Other ENSG00000189057 ENSG00000189057 HGNC:24200 FASTKD2 gene FASTKD2 Expert Review Green;Other;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44 (MIM#618855) Myopathy;HP:0003198; Muscle weakness;HP:0001324 31944455;18771761 False 3 50;50;0 4.165 True ENSG00000118246 ENSG00000118246 HGNC:29160 FDX2 gene FDX2 Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24281368;30010796;28803783 False 3 100;0;0 4.165 True ENSG00000267673 ENSG00000267673 HGNC:30546 FHL1 gene FHL1 Expert Review Green;Expert list;Expert list Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 19716112;20186852;20301609;18179901;25274776;34366191;18274675;19181672 False 3 67;33;0 4.165 True ENSG00000022267 ENSG00000022267 HGNC:3702 FHL1 gene FHL1 Expert Review Green;Expert list;Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 19716112;20186852;20301609;18179901;25274776;34366191;18274675;19181672 False 3 67;33;0 4.165 True ENSG00000022267 ENSG00000022267 HGNC:3702 FILIP1 gene FILIP1 Expert Review Green;Expert Review;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neuromuscular disorder, congenital, with dysmorphic facies, MIM# 620775 Myopathy;HP:0003198; Muscle weakness;HP:0001324 36943452;37163662 False 3 50;50;0 4.165 True ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP14 gene FKBP14 Expert Review Green;Literature;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31132235 False 3 100;0;0 4.165 True ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy caused by variation in FKRP MONDO:0700066 Myopathy;HP:0003198; Muscle weakness;HP:0001324 11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 4.165 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Limb-girdle muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Myopathy;HP:0003198; Muscle weakness;HP:0001324 11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 4.165 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKRP gene FKRP Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27602406;11592034;11741828;14647208;19299310;19155270 False 3 100;0;0 4.165 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 9690476;19017726;20301385;28680109 False 3 100;0;0 4.165 True ENSG00000106692 ENSG00000106692 HGNC:3622 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 Myopathy;HP:0003198; Muscle weakness;HP:0001324 9690476;19017726;20301385;28680109 False 3 100;0;0 4.165 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green;Expert list;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34454814;34718578;31392824;30982706;30311138;30427553;28433476;27259049;25058219 False 3 100;0;0 4.165 True ENSG00000160688 ENSG00000160688 HGNC:24671 FLNC gene FLNC Expert Review Green;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, familial restrictive 5 617047;Myopathy, distal, 4 614065;Myopathy, myofibrillar, 5 609524" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 29858533 False 3 100;0;0 4.165 True Other ENSG00000128591 ENSG00000128591 HGNC:3756 FXR1 gene FXR1 Expert Review Green;Other;NHS GMS Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823;MONDO:0032937) Myopathy;HP:0003198; Muscle weakness;HP:0001324 30770808;35393337 False 3 100;0;0 4.165 True ENSG00000114416 ENSG00000114416 HGNC:4023 GAA gene GAA Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease II 232300" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 29880332 False 3 100;0;0 4.165 True ENSG00000171298 ENSG00000171298 HGNC:4065 GAA gene GAA Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II (MIM#232300) Myopathy;HP:0003198; Muscle weakness;HP:0001324 25103075;27365701 False 3 100;0;0 4.165 True ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500;Polyglucosan body disease, adult form MIM#263570 Myopathy;HP:0003198; Muscle weakness;HP:0001324 8613547;20301758 False 3 100;0;0 4.165 True ENSG00000114480 ENSG00000114480 HGNC:4180 GFER gene GFER Expert Review Green;Other;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28155230;19409522;26018198 False 3 100;0;0 4.165 True ENSG00000127554 ENSG00000127554 HGNC:4236 GFPT1 gene GFPT1 Expert Review Green;Expert list;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates MIM#610542;Limb-girdle congenital myasthenic syndrome Myopathy;HP:0003198; Muscle weakness;HP:0001324 28712002;29905857;31449669 False 3 100;0;0 4.165 True ENSG00000198380 ENSG00000198380 HGNC:4241 GGPS1 gene GGPS1 Expert Review Green;Literature;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, MIM# 619518;Muscular dystrophy;Deafness;Ovarian insufficiency Myopathy;HP:0003198; Muscle weakness;HP:0001324 32403198 False 3 100;0;0 4.165 True ENSG00000152904 ENSG00000152904 HGNC:4249 GMPPB gene GMPPB Expert Review;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000173540 ENSG00000173540 HGNC:22932 GMPPB gene GMPPB Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352;Limb myalgia;exercise intolerance;myoglobinuria" Myopathy;HP:0003198; Muscle weakness;HP:0001324 28456886;27874200;25681410 False 3 100;0;0 4.165 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy (MIM#605820) Myopathy;HP:0003198; Muscle weakness;HP:0001324 22883483;20301439 False 3 50;50;0 4.165 True ENSG00000159921 ENSG00000159921 HGNC:23657 GOLGA2 gene GOLGA2 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental delay with hypotonia, myopathy, and brain abnormalities, MIM 620240 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 30237576;26742501;34424553 False 3 50;50;0 4.165 True ENSG00000167110 ENSG00000167110 HGNC:4425 GOSR2 gene GOSR2 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with or without seizures, MIM# 620166 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 30363482;29855340 False 3 67;0;33 4.165 True ENSG00000108433 ENSG00000108433 HGNC:4431 GUK1 gene GUK1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Myopathy;HP:0003198; Muscle weakness;HP:0001324 39230499 False 3 100;0;0 4.165 True ENSG00000143774 ENSG00000143774 HGNC:4693 GYG1 gene GYG1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 2, MIM# 616199;Glycogen storage disease XV , MIM# 613507 Myopathy;HP:0003198; Muscle weakness;HP:0001324 29422440;32477874;32528171 False 3 100;0;0 4.165 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYG1 gene GYG1 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV 613507;Polyglucosan body myopathy 2 616199 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25272951;26652229 False 3 100;0;0 4.165 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 611556 Myopathy;HP:0003198; Muscle weakness;HP:0001324 17928598;19699667;18358695;21958591 False 3 100;0;0 4.165 True ENSG00000104812 ENSG00000104812 HGNC:4706 HACD1 gene HACD1 Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 11 (MIM#619967;MONDO:0019952) Myopathy;HP:0003198; Muscle weakness;HP:0001324 32426512;27939133;33354762;23933735 False 3 50;50;0 4.165 True ENSG00000165996 ENSG00000165996 HGNC:9639 HADHA gene HADHA Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Trifunctional protein deficiency MIM#609015 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25778941;7811722;29459657 False 3 100;0;0 4.165 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency MIM#609015 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25778941;30682426;9259266;29956646 False 3 100;0;0 4.165 True ENSG00000138029 ENSG00000138029 HGNC:4803 HMBS gene HMBS Expert Review Green;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent MIM#176000 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25389600;18647325 False 3 100;0;0 4.165 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCR gene HMGCR Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 37167966;36745799 False 3 50;0;50 4.165 True ENSG00000113161 ENSG00000113161 HGNC:5006 HMGCS1 gene HMGCS1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rigid spine syndrome, MONDO:0019951, HMGCS1-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 39531736 False 3 100;0;0 4.165 True ENSG00000112972 ENSG00000112972 HGNC:5007 HNRNPA1 gene HNRNPA1 Expert Review Green;Literature;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23455423;27066560;34291734;34722876 False 3 100;0;0 4.165 True Other ENSG00000135486 ENSG00000135486 HGNC:5031 HNRNPA2B1 gene HNRNPA2B1 Expert Review Green;Literature;Literature;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23455423;30279180;29358076;26744327;23635965;35484142 False 3 33;67;0 4.165 True ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPDL gene HNRNPDL Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, type 1G 609115 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24647604;31267206;31995753;32407983;32904822;32367994 False 3 100;0;0 4.165 True ENSG00000152795 ENSG00000152795 HGNC:5037 HSPB8 gene HSPB8 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32165108;26718575;31403083;28780615 False 3 100;0;0 4.165 True Other ENSG00000152137 ENSG00000152137 HGNC:30171 INPP4A gene INPP4A Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal INPP4A-related neurodevelopmental disorder Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 39315527 False 3 100;0;0 4.165 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5K gene INPP5K Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000132376 ENSG00000132376 HGNC:33882 ISCU gene ISCU Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, MIM# 255125 Myopathy;HP:0003198; Muscle weakness;HP:0001324 29079705;18304497;18296749;19567699 False 3 100;0;0 4.165 True ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 22522421;23217329;23390185;30060766;28688748;26404900 False 3 100;0;0 4.165 True ENSG00000214960 ENSG00000214960 HGNC:37276 ISPD gene ISPD Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23390185;30060766;28688748;26404900 False 3 100;0;0 4.165 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA7 gene ITGA7 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34552617;9590299 False 3 100;0;0 4.165 True ENSG00000135424 ENSG00000135424 HGNC:6143 JAG2 gene JAG2 Expert Review Green;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566;muscular dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 33861953 False 3 100;0;0 4.165 True ENSG00000184916 ENSG00000184916 HGNC:6189 JAG2 gene JAG2 Expert Review Green;Other;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33861953 False 3 100;0;0 4.165 True ENSG00000184916 ENSG00000184916 HGNC:6189 JPH1 gene JPH1 Expert Review Green;Other Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 25, MIM# 620964 Myopathy;HP:0003198; Muscle weakness;HP:0001324 39209426 False 3 100;0;0 4.165 True ENSG00000104369 ENSG00000104369 HGNC:14201 KBTBD13 gene KBTBD13 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy 6, autosomal dominant (MIM# 609273;MONDO:0012237) Myopathy;HP:0003198; Muscle weakness;HP:0001324 21104864;11731279;21109227 False 3 100;0;0 4.165 True ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA1 gene KCNA1 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted EA1;Episodic ataxia/myokymia syndrome, 160120;Myokymia;Episodic Ataxia;Episodic Ataxia, Type 1 Myopathy;HP:0003198; Muscle weakness;HP:0001324 11026449 False 3 100;0;0 4.165 True Other ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ2 gene KCNJ2 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic Periodic Paralysis, Type 2;Periodic paralysis;Andersen syndrome, MIM# 170390;Episodic weakness;Andersen syndrome Myopathy;HP:0003198; Muscle weakness;HP:0001324 11371347;12796536 False 3 100;0;0 4.165 True ENSG00000123700 ENSG00000123700 HGNC:6263 KLHL40 gene KLHL40 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23746549 False 3 100;0;0 4.165 True ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy 9 (MIM#615731;MONDO:0014326) Myopathy;HP:0003198; Muscle weakness;HP:0001324 24268659 False 3 100;0;0 4.165 True ENSG00000239474 ENSG00000239474 HGNC:16905 KY gene KY Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 7 (MIM#617114) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27484770;27485408;30591934;11136708 False 3 100;0;0 4.165 True ENSG00000174611 ENSG00000174611 HGNC:26576 LAMA2 gene LAMA2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30055037 False 3 100;0;0 4.165 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMA2 gene LAMA2 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30055037 False 3 100;0;0 4.165 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAMP2 gene LAMP2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel 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;MONDO:0010281 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000133424 ENSG00000133424 HGNC:6511 LDB3 gene LDB3 Expert Review Green;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myofibrillar myopathy 4 MONDO:0012277 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24668811;27546599;25911362 False 3 100;0;0 4.165 True Other ENSG00000122367 ENSG00000122367 HGNC:15710 LDHA gene LDHA Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, MIM# 612933 Myopathy;HP:0003198; Muscle weakness;HP:0001324 2334430;1959923;8327147 False 3 100;0;0 4.165 True ENSG00000134333 ENSG00000134333 HGNC:6535 LMNA gene LMNA Expert Review Green;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNA gene LMNA Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Emery-Dreifuss muscular dystrophy 2, autosomal dominant (MIM#181350)" Myopathy;HP:0003198; Muscle weakness;HP:0001324 27220833;23746545;17377071 False 3 0;100;0 4.165 True Other ENSG00000160789 ENSG00000160789 HGNC:6636 LMOD3 gene LMOD3 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10 (MIM# 616165;MONDO:0014513) Myopathy;HP:0003198; Muscle weakness;HP:0001324 25250574;28815944;30291184 False 3 100;0;0 4.165 True ENSG00000163380 ENSG00000163380 HGNC:6649 LPIN1 gene LPIN1 Expert Review Green;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 268200 Myopathy;HP:0003198; Muscle weakness;HP:0001324 22481384;28649549;18817903;32410653 False 3 100;0;0 4.165 True ENSG00000134324 ENSG00000134324 HGNC:13345 MAN2B1 gene MAN2B1 Expert Review Green;Expert list;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Alpha-mannosidosis MONDO:0009561 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301570 False 3 100;0;0 4.165 True ENSG00000104774 ENSG00000104774 HGNC:6826 MAP3K20 gene MAP3K20 Expert Review Green;Other;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760;MONDO:0054695) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27816943 False 3 100;0;0 4.165 True ENSG00000091436 ENSG00000091436 HGNC:17797 MATR3 gene MATR3 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy with vocal cord weakness MONDO:0018951 Myopathy;HP:0003198; Muscle weakness;HP:0001324 19344878;34659085;25154462;31056746 False 3 100;0;0 4.165 True Other ENSG00000015479 ENSG00000015479 HGNC:6912 MB gene MB Expert Review Green;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, sarcoplasmic body MIM#620286 Myopathy;HP:0003198; Muscle weakness;HP:0001324 35527200;30918256 False 3 100;0;0 4.165 True ENSG00000198125 ENSG00000198125 HGNC:6915 MEGF10 gene MEGF10 Expert Review Green;Expert list;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal MEGF10-Related Myopathy MONDO:0013731 Myopathy;HP:0003198; Muscle weakness;HP:0001324 22101682;22371254;23453856;27460346 False 3 100;0;0 4.165 True ENSG00000145794 ENSG00000145794 HGNC:29634 MGME1 gene MGME1 Expert Review Green;Other;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial DNA depletion syndrome 11 MONDO:0014039 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23313956;29572490;28711739 False 3 100;0;0 4.165 True ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, MIM# 615673 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24336167;29721912;32395406 False 3 100;0;0 4.165 True ENSG00000107745 ENSG00000107745 HGNC:1530 MLIP gene MLIP Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34581780 False 3 100;0;0 4.165 True ENSG00000146147 ENSG00000146147 HGNC:21355 MPDU1 gene MPDU1 Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Myopathy;HP:0003198; Muscle weakness;HP:0001324 11733564;11733556;31741824;29721919 False 3 100;0;0 4.165 True ENSG00000129255 ENSG00000129255 HGNC:7207 MSTO1 gene MSTO1 Expert Review Green;Expert Review;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia (MIM#617675) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28554942;28544275;31604776 False 3 100;0;0 4.165 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTM1 gene MTM1 Expert Review Green;Literature;Expert Review Green;Expert list Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30232666;38982518;10790201 False 3 100;0;0 4.165 True ENSG00000171100 ENSG00000171100 HGNC:7448 MTM1 gene MTM1 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myotubular myopathy, X-linked, 310400 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000171100 ENSG00000171100 HGNC:7448 MYBPC1 gene MYBPC1 Expert Review Green;Other;NHS GMS Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 16 (MIM#618524) Myopathy;HP:0003198; Muscle weakness;HP:0001324 31264822;31025394 False 3 100;0;0 4.165 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYH2 gene MYH2 Expert Review Green;Expert list;Expert Review Green Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20418530;15548556;24193343;11114175;23489661;32578970;29934118;28729039;27490141;27177998 False 3 100;0;0 4.165 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYH7 gene MYH7 Expert Review Green;Literature;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MYH7-related skeletal myopathy MONDO:0008050 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;15322983 False 3 100;0;0 4.165 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 Expert Review Green;Expert Review;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Laing distal myopathy (MIM#160500);Scapuloperoneal syndrome, myopathic type (MIM#181430) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27387980;20733148 False 3 50;50;0 4.165 True Other ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424) Myopathy;HP:0003198; Muscle weakness;HP:0001324 23365102;9673982 False 3 100;0;0 4.165 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYMK gene MYMK Expert Review Green;Other;Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome MONDO:0009700 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32333597;30065953 False 3 100;0;0 4.165 True ENSG00000187616 ENSG00000187616 HGNC:33778 MYMX gene MYMX Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carey-Fineman-Ziter syndrome MONDO:0009700 Myopathy;HP:0003198; Muscle weakness;HP:0001324 35642635 False 3 50;50;0 4.165 True ENSG00000262179 ENSG00000262179 HGNC:52391 MYO18B gene MYO18B Expert Review Green;Expert list;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25748484;27858739;32637634;32184166;27879346 False 3 100;0;0 4.165 True ENSG00000133454 ENSG00000133454 HGNC:18150 MYOD1 gene MYOD1 Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 17 (MIM#618975) Myopathy;HP:0003198; Muscle weakness;HP:0001324 26733463;31260566;30403323 False 3 100;0;0 4.165 True ENSG00000129152 ENSG00000129152 HGNC:7611 MYOT gene MYOT Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, myofibrillar, 3 (MIM#609200)" Myopathy;HP:0003198; Muscle weakness;HP:0001324 30055862;21336781;15947064;10958653;15111675;16380616;33250842;32509353;29924655 False 3 0;100;0 4.165 True ENSG00000120729 ENSG00000120729 HGNC:12399 MYPN gene MYPN Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy (MIM#617336;MONDO:0018958) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28017374 False 3 100;0;0 4.165 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEB gene NEB Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal distal myopathy MONDO:0018949 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21724397;17525139;33458580;25205138 False 3 75;25;0 4.165 True ENSG00000183091 ENSG00000183091 HGNC:7720 NEB gene NEB Expert Review Green;Other;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline Myopathy 2 (MIM#256030;MONDO: 0009725) Myopathy;HP:0003198; Muscle weakness;HP:0001324 25205138 False 3 100;0;0 4.165 True ENSG00000183091 ENSG00000183091 HGNC:7720 OBSCN gene OBSCN Expert Review Green;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Rhabdomyolysis, MONDO:0005290, OBSCN-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 34957489 False 3 33;0;67 4.165 True ENSG00000154358 ENSG00000154358 HGNC:15719 OPA1 gene OPA1 Expert Review Green;Literature;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30165240;20301426 False 3 50;50;0 4.165 True ENSG00000198836 ENSG00000198836 HGNC:8140 ORAI1 gene ORAI1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31448844;38982518 False 3 100;0;0 4.165 True Other ENSG00000182500 ENSG00000276045 HGNC:25896 ORAI1 gene ORAI1 Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, tubular aggregate, 2 (MIM#615883) Myopathy;HP:0003198; Muscle weakness;HP:0001324 31448844 False 3 33;67;0 4.165 True ENSG00000182500 ENSG00000276045 HGNC:25896 PABPN1 gene PABPN1 Expert Review Green;Other Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal oculopharyngeal muscular dystrophy MONDO:0008116 Myopathy;HP:0003198; Muscle weakness;HP:0001324 19080757;33805441;16648376 False 3 100;0;0 4.165 True ENSG00000100836 ENSG00000100836 HGNC:8565 PAX7 gene PAX7 Expert Review Green;Other;Expert Review Green;Expert list;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 19 (MIM#618578) Myopathy;HP:0003198; Muscle weakness;HP:0001324 31092906 False 3 100;0;0 4.165 True ENSG00000009709 ENSG00000009709 HGNC:8621 PFKM gene PFKM Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, MIM# 232800 Myopathy;HP:0003198; Muscle weakness;HP:0001324 2140573;8444874;7513946;7550225 False 3 100;0;0 4.165 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, MIM# 261670 Myopathy;HP:0003198; Muscle weakness;HP:0001324 8447317;34237446;30310767 False 3 100;0;0 4.165 True ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 300653;MONDO:0010392 Myopathy;HP:0003198; Muscle weakness;HP:0001324 6933565;1547346;7577653;9512313 False 3 100;0;0 4.165 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It, MIM# 614921 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31563034;26303607;24878975;27206562;29858906;32681750;19625727;24499211 False 3 100;0;0 4.165 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, MIM# 300559 Myopathy;HP:0003198; Muscle weakness;HP:0001324 7874115;12825073;9731190 False 3 100;0;0 4.165 True ENSG00000067177 ENSG00000067177 HGNC:8925 PLEC gene PLEC Expert Review Green;Expert Review;Expert Review Green;Expert Review;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy with epidermolysis bullosa simplex, 226670 Myopathy;HP:0003198; Muscle weakness;HP:0001324 22144912 False 3 100;0;0 4.165 True ENSG00000178209 ENSG00000178209 HGNC:9069 PLEC gene PLEC Expert Review Green;Expert Review;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723) Myopathy;HP:0003198; Muscle weakness;HP:0001324 20624679;21109228;28824526 False 3 100;0;0 4.165 True ENSG00000178209 ENSG00000178209 HGNC:9069 PNPLA2 gene PNPLA2 Expert list;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neutral lipid storage disease with myopathy MIM#610717" Myopathy;HP:0003198; Muscle weakness;HP:0001324 18952067;25287355;25956450 False 3 67;0;33 4.165 True ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA2 gene PNPLA2 Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Neutral lipid storage disease with myopathy 610717" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 32269696;21544567 False 3 100;0;0 4.165 True ENSG00000177666 ENSG00000177666 HGNC:30802 POGLUT1 gene POGLUT1 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27807076;29034878;31897643 False 3 67;33;0 4.165 True ENSG00000163389 ENSG00000163389 HGNC:22954 POLG gene POLG Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459;Progressive external ophthalmoplegia, autosomal dominant 1 157640;Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Progressive external ophthalmoplegia, autosomal recessive 1 258450 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30451971 False 3 100;0;0 4.165 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131 Myopathy;HP:0003198; Muscle weakness;HP:0001324 16685652;21555342;27592148;31778857 False 3 50;50;0 4.165 True ENSG00000256525 ENSG00000256525 HGNC:9180 POMGNT1 gene POMGNT1 Expert Review Green;Expert Review;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27391550;26908613;30961548;30937090 False 3 100;0;0 4.165 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT1 gene POMGNT1 Expert Review Green;Expert Review;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32907597;31833209;29910097;28109637;24925318;24556084 False 3 100;0;0 4.165 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Expert Review;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT1 gene POMT1 Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Expert Review;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000009830 ENSG00000009830 HGNC:19743 POMT2 gene POMT2 Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000009830 ENSG00000009830 HGNC:19743 POPDC3 gene POPDC3 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 26, MIM# 618848" Myopathy;HP:0003198; Muscle weakness;HP:0001324 31610034 False 3 100;0;0 4.165 True ENSG00000132429 ENSG00000132429 HGNC:17649 PRKAG2 gene PRKAG2 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome 194200;Cardiomyopathy, hypertrophic 6 600858;Glycogen storage disease of heart, lethal congenital 261740 Myopathy;HP:0003198; Muscle weakness;HP:0001324 15766830;31049239 False 3 100;0;0 4.165 True ENSG00000106617 ENSG00000106617 HGNC:9386 PUS1 gene PUS1 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 4.165 True ENSG00000177192 ENSG00000177192 HGNC:15508 PYGM gene PYGM Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease V McArdle disease 232600 AR Myopathy;HP:0003198; Muscle weakness;HP:0001324 32386344 False 3 100;0;0 4.165 True ENSG00000068976 ENSG00000068976 HGNC:9726 PYROXD1 gene PYROXD1 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 8 MONDO:0014993 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30345904;30515627;27745833 False 3 100;0;0 4.165 True ENSG00000121350 ENSG00000121350 HGNC:26162 PYROXD1 gene PYROXD1 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, myofibrillar, 8, 617258;adult-onset limb girdle muscular dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 30345904;30515627;27745833 False 3 0;100;0 4.165 True ENSG00000121350 ENSG00000121350 HGNC:26162 RBCK1 gene RBCK1 Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency 615895 Myopathy;HP:0003198; Muscle weakness;HP:0001324 29260357;29695863 False 3 100;0;0 4.165 True ENSG00000125826 ENSG00000125826 HGNC:15864 RFC4 gene RFC4 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Morimoto-Ryu-Malicdan neuromuscular syndrome, MIM# 621010 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 39106866 False 3 100;0;0 4.165 True ENSG00000163918 ENSG00000163918 HGNC:9972 RMND1 gene RMND1 Expert Review Green;Other;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation defect type 11 MONDO:0013969 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23022099;25604853;27843092 False 3 100;0;0 4.165 False ENSG00000155906 ENSG00000155906 HGNC:21176 RRM2B gene RRM2B Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32827185;24741716 False 3 100;0;0 4.165 True ENSG00000048392 ENSG00000048392 HGNC:17296 RYR1 gene RYR1 Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Malignant hyperthermia susceptibility 1}, 145600;Central core disease, 117000;King-Denborough syndrome, 145600;Neuromuscular disease, congenital, with uniform type 1 fiber, 117000;Minicore myopathy with external ophthalmoplegia, 255320 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301325;23553484 False 3 67;33;0 4.165 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Malignant hyperthermia susceptibility 1} MIM#145600 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301325 False 3 100;0;0 4.165 True Other ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Green;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal calf predominant distal myopathy;distal myopathy MONDO:0018949 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30842289;33458580 False 3 100;0;0 4.165 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 23553484 False 3 33;33;33 4.165 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR1 gene RYR1 Expert Review Green;Expert list;Royal Melbourne Hospital;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Malignant hyperthermia Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000196218 ENSG00000196218 HGNC:10483 SCN4A gene SCN4A Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paramyotonia congenita, 168300;Myotonia congenita, atypical, acetazolamide-responsive, 608390;Hypokalemic periodic paralysis, type 2, 613345;Myasthenic syndrome, congenital, 16, 614198;Hyperkalemic periodic paralysis, type 2, 170500 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23801527;28779239;32978841 False 3 100;0;0 4.165 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCN4A gene SCN4A Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperkalemic Periodic Paralysis;Hypokalemic periodic paralysis, type 2, 613;Thyrotoxic Periodic Paralysis, Susceptibility To, 2;Hypokalemic Periodic Paralysis;Episodic weakness;Myotonia;Potassium-Aggravated Myotonia;Hyperkalemic periodic paralysis, type 2, 170500;Myasthenic syndrome, acetazolamide-responsive, 614198 Myopathy;HP:0003198; Muscle weakness;HP:0001324 8385748;11591859 False 3 100;0;0 4.165 True ENSG00000007314 ENSG00000007314 HGNC:10591 SCO2 gene SCO2 Expert Review Green;Other;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23719228 False 3 100;0;0 4.165 True ENSG00000130489 ENSG00000130489 HGNC:10604 SELENON gene SELENON Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, rigid spine, 1 (MIM#602771) Myopathy;HP:0003198; Muscle weakness;HP:0001324 11528383 False 3 100;0;0 4.165 True ENSG00000162430 ENSG00000162430 HGNC:15999 SGCA gene SGCA Expert Review Green;Expert Review Green;Expert Review;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30007747;9192266;34404573 False 3 100;0;0 4.165 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCA gene SGCA Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27297959;26453141;23989969 False 3 100;0;0 4.165 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB Expert Review;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2E, 604286 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2F, 601287 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 67;0;33 4.165 False ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG Expert Review Green;Expert Review;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2C, 253700 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30838351;25802879 False 3 100;0;0 4.165 True ENSG00000102683 ENSG00000102683 HGNC:10809 SIL1 gene SIL1 Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Marinesco-Sjogren syndrome (MIM#248800)" Myopathy;HP:0003198; Muscle weakness;HP:0001324 16282977;24176978 False 3 100;0;0 4.165 True ENSG00000120725 ENSG00000120725 HGNC:24624 SIL1 gene SIL1 Expert Review Green;Expert Review Green;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome 248800 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC22A5 gene SLC22A5 Expert Review Green;Literature;NHS GMS;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary 212140 Myopathy;HP:0003198; Muscle weakness;HP:0001324 9916797;10072434;10051646;10425211;10480371;10679939;9837751;23379544;31399326 False 3 100;0;0 4.165 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 Expert Review Green;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency MIM#212138 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24088670 False 3 100;0;0 4.165 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A32 gene SLC25A32 Expert Review Green;Literature;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive MONDO:0014795 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26933868;35727412;34764427;28443623 False 3 100;0;0 4.165 True ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A4 gene SLC25A4 Expert Review Green;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418 Myopathy;HP:0003198; Muscle weakness;HP:0001324 28823815 False 3 100;0;0 4.165 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC4A10 gene SLC4A10 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM# 620746 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 37459438 False 3 100;0;0 4.165 True ENSG00000144290 ENSG00000144290 HGNC:13811 SLC52A2 gene SLC52A2 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 2 MONDO:0013867 Myopathy;HP:0003198; Muscle weakness;HP:0001324 29193829;31868069;29053833;26072523 False 3 100;0;0 4.165 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Myopathy;HP:0003198; Muscle weakness;HP:0001324 29193829;31868069;29053833;26072523 False 3 100;0;0 4.165 True ENSG00000101276 ENSG00000101276 HGNC:16187 SMCHD1 gene SMCHD1 Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301616 False 3 100;0;0 4.165 True ENSG00000101596 ENSG00000101596 HGNC:29090 SMPX gene SMPX Expert Review Green;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33974137 False 3 100;0;0 4.165 True Other ENSG00000091482 ENSG00000091482 HGNC:11122 SNUPN gene SNUPN Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 38413582;PMID: 38366623 False 3 100;0;0 4.165 True ENSG00000169371 ENSG00000169371 HGNC:14245 SNUPN gene SNUPN Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 38413582;PMID: 38366623 False 3 100;0;0 4.165 True ENSG00000169371 ENSG00000169371 HGNC:14245 SPEG gene SPEG Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25087613;30412272 False 3 100;0;0 4.165 True ENSG00000072195 ENSG00000072195 HGNC:16901 SRPK3 gene SRPK3 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38429495 False 3 100;0;0 4.165 True ENSG00000184343 ENSG00000184343 HGNC:11402 STAC3 gene STAC3 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital myopathy 13 (MIM#255995) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28411587;28777491 False 3 100;0;0 4.165 True ENSG00000185482 ENSG00000185482 HGNC:28423 STAC3 gene STAC3 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Myopathy, congenital, Baily-Bloch MIM#255995" Myopathy;HP:0003198; Muscle weakness;HP:0001324 30168660;32898259 False 3 100;0;0 4.165 True ENSG00000185482 ENSG00000185482 HGNC:28423 STIM1 gene STIM1 Expert Review Green;Literature;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;31448844 False 3 100;0;0 4.165 True Other ENSG00000167323 ENSG00000167323 HGNC:11386 STIM1 gene STIM1 Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Myopathy, tubular aggregate, 1 (MIM#160565);Stormorken syndrome (MIM#185070)" Myopathy;HP:0003198; Muscle weakness;HP:0001324 31448844 False 3 67;33;0 4.165 True Other ENSG00000167323 ENSG00000167323 HGNC:11386 SUCLA2 gene SUCLA2 Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Myopathy;HP:0003198; Muscle weakness;HP:0001324 15877282;17287286;17301081;23759946;33231368;33230181;28243576;27913098;27651038 False 3 100;0;0 4.165 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;Other;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial DNA depletion syndrome 9 MONDO:0009504 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30560055;29217198 False 3 100;0;0 4.165 True ENSG00000163541 ENSG00000163541 HGNC:11449 SYNE1 gene SYNE1 Expert Review;Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE1 gene SYNE1 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27782104;19542096 False 3 100;0;0 4.165 True ENSG00000131018 ENSG00000131018 HGNC:17089 TAMM41 gene TAMM41 Expert Review Green;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 Myopathy;HP:0003198; Muscle weakness;HP:0001324 35321494;29253589 False 3 100;0;0 4.165 True ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review Green;Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26805781 False 3 100;0;0 4.165 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAZ gene TAZ Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome MIM#302060 Myopathy;HP:0003198; Muscle weakness;HP:0001324 26845103 False 3 100;0;0 4.165 True ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Expert Review Green;Expert Review Green;Expert Review Green;Expert Review;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2G, 601954 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25055047;22029105;18948002 False 3 100;0;0 4.165 True ENSG00000173991 ENSG00000173991 HGNC:11610 TK2 gene TK2 Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33457207 False 3 100;0;0 4.165 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27374774;27374773 False 3 100;0;0 4.165 True ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM5 gene TMEM5 Expert Review Green;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23217329;23519211 False 3 100;0;0 4.165 True ENSG00000118600 ENSG00000118600 HGNC:13530 TNNT1 gene TNNT1 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 5 MONDO:0011539;Nemaline myopathy MONDO:0018958 Myopathy;HP:0003198; Muscle weakness;HP:0001324 10952871;32994279;32819427;31970803;31604653;29931346;29178646 False 3 100;0;0 4.165 True ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 Expert Review Green;Other;Expert Review Green Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy MONDO:0018958 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33977145;29266598;23775847 False 3 100;0;0 4.165 True ENSG00000130595 ENSG00000130595 HGNC:11950 TNPO3 gene TNPO3 Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23667635;23543484;31071488;31192305 False 3 100;0;0 4.165 True Other ENSG00000064419 ENSG00000064419 HGNC:17103 TOR1AIP1 gene TOR1AIP1 Expert Review Green;Literature;Expert list Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24856141;31299614;30723199;27342937;32055997 False 3 100;0;0 4.165 True ENSG00000143337 ENSG00000143337 HGNC:29456 TPM2 gene TPM2 Expert Review Green;Other Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline myopathy 4, autosomal dominant (MIM#609285) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17846275;23378224 False 3 100;0;0 4.165 True ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 Expert Review Green;Other;Expert Review Green Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 26418456;18300303;10619715;12196661;18382475 False 3 100;0;0 4.165 True ENSG00000143549 ENSG00000143549 HGNC:12012 TRAPPC11 gene TRAPPC11 Expert Review Green;Expert Review Green;Expert Review;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2S, 615356 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23830518;26322222;29855340;30105108 False 3 100;0;0 4.165 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC11 gene TRAPPC11 Expert Review Green;Expert Review Green;Expert list;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Myopathy;HP:0003198; Muscle weakness;HP:0001324 23830518;26322222;29855340;30105108 False 3 100;0;0 4.165 True ENSG00000168538 ENSG00000168538 HGNC:25751 TRDN gene TRDN Expert Review Green;Other Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 Myopathy;HP:0003198; Muscle weakness;HP:0001324 28202702;30649896;34415104 False 3 0;0;0 4.165 True ENSG00000186439 ENSG00000186439 HGNC:12261 TRIM32 gene TRIM32 Expert Review Green;Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H, 254110 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 50;0;50 4.165 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIP4 gene TRIP4 Expert Review Green;Other;NHS GMS Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy, congenital, Davignon-Chauveau type (MIM#617066) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27008887;31794073 False 3 100;0;0 4.165 True ENSG00000103671 ENSG00000103671 HGNC:12310 TSFM gene TSFM Expert Review Green;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31267352;17033963 False 3 100;0;0 4.165 True ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN Expert Review Green;Expert Review;Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTN gene TTN Expert Review Green;Literature;Expert Review Green;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal TTN-related myopathy MONDO:0100175 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38429495;38982518 False 3 100;0;0 4.165 True ENSG00000155657 ENSG00000155657 HGNC:12403 TWNK gene TWNK Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20880070 False 3 100;0;0 4.165 True ENSG00000107815 ENSG00000107815 HGNC:1160 UNC45B gene UNC45B Expert Review Green;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 100;0;0 4.165 True ENSG00000141161 ENSG00000141161 HGNC:14304 UNC45B gene UNC45B Expert Review Green;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 11 (MIM#619178) Myopathy;HP:0003198; Muscle weakness;HP:0001324 33217308;31852522 False 3 100;0;0 4.165 True ENSG00000141161 ENSG00000141161 HGNC:14304 VCP gene VCP Expert Review Green;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 3 0;0;0 4.165 False ENSG00000165280 ENSG00000165280 HGNC:12666 VMA21 gene VMA21 Expert Review Green;Expert Review Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27916343;25809233;23315026 False 3 0;100;0 4.165 True ENSG00000160131 ENSG00000160131 HGNC:22082 VPS13A gene VPS13A Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal chorea-acanthocytosis MONDO:0008695 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33652783;20301561 False 3 100;0;0 4.165 True ENSG00000197969 ENSG00000197969 HGNC:1908 YARS2 gene YARS2 Expert Review Green;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561 Myopathy;HP:0003198; Muscle weakness;HP:0001324 28395030 False 3 100;0;0 4.165 True ENSG00000139131 ENSG00000139131 HGNC:24249 ACADVL gene ACADVL Expert Review Amber;Expert list;Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 9546340;32558070;22097235;24305961 False 2 50;50;0 4.165 True ENSG00000072778 ENSG00000072778 HGNC:92 ALG14 gene ALG14 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518;28733338 False 2 0;100;0 4.165 True ENSG00000172339 ENSG00000172339 HGNC:28287 ANXA11 gene ANXA11 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy and brain white matter abnormalities, MIM# 619733 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34048612 False 2 0;100;0 4.165 True ENSG00000122359 ENSG00000122359 HGNC:535 ASPH gene ASPH Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 35697689 False 2 50;50;0 4.165 True ENSG00000198363 ENSG00000198363 HGNC:757 ASPH gene ASPH Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 35697689 False 2 0;100;0 4.165 True ENSG00000198363 ENSG00000198363 HGNC:757 ATP2A1 gene ATP2A1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Brody myopathy MIM#601003 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32040565 False 2 0;100;0 4.165 True ENSG00000196296 ENSG00000196296 HGNC:811 B3GNT2 gene B3GNT2 Expert Review Amber;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 23359570;23877401 False 2 0;100;0 4.165 True ENSG00000170340 ENSG00000170340 HGNC:15629 BET1 gene BET1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with rapid progression, MIM# 254100 Myopathy;HP:0003198; Muscle weakness;HP:0001324 34779586 False 2 0;100;0 4.165 True ENSG00000105829 ENSG00000105829 HGNC:14562 CAPN3 gene CAPN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, limb-girdle, autosomal recessive 1 253600" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 31937337 False 2 50;50;0 4.165 True ENSG00000092529 ENSG00000092529 HGNC:1480 CASQ1 gene CASQ1 Expert Review Amber;Literature;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted tubular aggregate myopathy MONDO:0008051 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 2 0;100;0 4.165 True Other ENSG00000143318 ENSG00000143318 HGNC:1512 CCDC78 gene CCDC78 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear Myopathy (MIM#614807;MONDO: 0018947) Myopathy;HP:0003198; Muscle weakness;HP:0001324 22818856 False 2 0;100;0 4.165 True ENSG00000162004 ENSG00000162004 HGNC:14153 CHKB gene CHKB Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;CHKB-Related Muscular Dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 37011121 False 2 50;50;0 4.165 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHKB gene CHKB Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal megaconial type congenital muscular dystrophy MONDO:0011246;recurrent rhabdomyolysis;CHKB-Related Muscular Dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 26782016;37011121;21665002;23692895;24997086 False 2 50;50;0 4.165 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHRNA1 gene CHRNA1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 36634413;38982518 False 2 0;100;0 4.165 True ENSG00000138435 ENSG00000138435 HGNC:1955 CNTN1 gene CNTN1 Expert Review Amber;Other;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 12, Compton-North myopathy (MONDO:0012929;MIM#612540) Myopathy;HP:0003198; Muscle weakness;HP:0001324 10926398 False 2 0;100;0 4.165 True ENSG00000018236 ENSG00000018236 HGNC:2171 COL4A1 gene COL4A1 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23065703;20818663;25719457;21625620;23225343 False 2 50;50;0 4.165 True Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL9A2 gene COL9A2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 2 MIM#600204" Myopathy;HP:0003198; Muscle weakness;HP:0001324 20508815;20358595 False 2 0;100;0 4.165 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 3, with or without myopathy MIM#600969" Myopathy;HP:0003198; Muscle weakness;HP:0001324 10655510 False 2 0;100;0 4.165 True ENSG00000092758 ENSG00000092758 HGNC:2219 COMP gene COMP Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epiphyseal dysplasia, multiple, 1 MIM#132400" Myopathy;HP:0003198; Muscle weakness;HP:0001324 20508815;14684695;15880723 False 2 0;100;0 4.165 True ENSG00000105664 ENSG00000105664 HGNC:2227 CRYAB gene CRYAB Expert Review Green;Expert Review Amber;Expert list;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, MIM# 608810 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 21337604;32420686 False 2 25;75;0 4.165 True ENSG00000109846 ENSG00000109846 HGNC:2389 DNMT3B gene DNMT3B Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Facioscapulohumeral muscular dystrophy MONDO:0001347 Myopathy;HP:0003198; Muscle weakness;HP:0001324 27153398;33004076 False 2 50;50;0 4.165 True ENSG00000088305 ENSG00000088305 HGNC:2979 DPM2 gene DPM2 Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM# 615042 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23109149 False 2 0;100;0 4.165 True ENSG00000136908 ENSG00000136908 HGNC:3006 ETFB gene ETFB Expert Review Amber;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB 231680 Myopathy;HP:0003198; Muscle weakness;HP:0001324 12815589;7912128 False 2 0;100;0 4.165 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 19592060;17412732 False 2 50;50;0 4.165 True ENSG00000171503 ENSG00000171503 HGNC:3483 HRAS gene HRAS Expert Review Amber;Other;Expert Review Amber Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myopathy with excess of muscle spindles (MIM#218040) Myopathy;HP:0003198; Muscle weakness;HP:0001324 17412879 False 2 0;100;0 4.165 True ENSG00000174775 ENSG00000174775 HGNC:5173 KLHL9 gene KLHL9 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted distal myopathy MONDO:0018949 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20554658 False 2 0;100;0 4.165 True ENSG00000198642 ENSG00000198642 HGNC:18732 LAMP2 gene LAMP2 Expert Review Green;Expert Review Amber;Expert Review;Victorian Clinical Genetics Services Myopathy Superpanel 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) Myopathy;HP:0003198; Muscle weakness;HP:0001324 27179547;22541782 False 2 50;50;0 4.165 True ENSG00000005893 ENSG00000005893 HGNC:6501 LPIN1 gene LPIN1 Expert Review Green;Expert Review Amber;Expert Review;Expert Review Green;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive (MIM#268200) Myopathy;HP:0003198; Muscle weakness;HP:0001324 28649549;18817903;32410653 False 2 67;33;0 4.165 True ENSG00000134324 ENSG00000134324 HGNC:13345 LRIF1 gene LRIF1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Facioscapulohumeral muscular dystrophy MONDO:0001347 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32467133 False 2 0;100;0 4.165 True ENSG00000121931 ENSG00000121931 HGNC:30299 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 37503746 False 2 0;100;0 4.165 True ENSG00000165072 ENSG00000165072 HGNC:23673 MAMDC2 gene MAMDC2 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular Dystrophy MONDO:0020121, MAMDC2-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 37503746 False 2 0;100;0 4.165 True ENSG00000165072 ENSG00000165072 HGNC:23673 MTMR14 gene MTMR14 Expert Review Amber;Other;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Centronuclear myopathy, autosomal, modifier of} (MIM#160150) Myopathy;HP:0003198; Muscle weakness;HP:0001324 20400459;20817957;19465920;17008356 False 2 0;100;0 4.165 True ENSG00000163719 ENSG00000163719 HGNC:26190 MYL1 gene MYL1 Expert Review Amber;Other;NHS GMS Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital Myopathy 14 (MIM#618414) Myopathy;HP:0003198; Muscle weakness;HP:0001324 30215711 False 2 0;100;0 4.165 True ENSG00000168530 ENSG00000168530 HGNC:7582 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38637313 False 2 0;100;0 4.165 True ENSG00000165912 ENSG00000165912 HGNC:8572 PACSIN3 gene PACSIN3 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, PACSIN3-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38637313 False 2 0;100;0 4.165 True ENSG00000165912 ENSG00000165912 HGNC:8572 PFKM gene PFKM Expert Review Amber;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Myopathy;HP:0003198; Muscle weakness;HP:0001324 24427140;27066546;30792690 False 2 0;100;0 4.165 True ENSG00000152556 ENSG00000152556 HGNC:8877 POGLUT1 gene POGLUT1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, MONDO:0020121, POGLUT1-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 33861953 False 2 0;100;0 4.165 True ENSG00000163389 ENSG00000163389 HGNC:22954 POMK gene POMK Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24556084;24925318;29910097 False 2 50;50;0 4.165 True ENSG00000185900 ENSG00000185900 HGNC:26267 PYGM gene PYGM Expert Review Amber;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease (MIM#232600) Myopathy;HP:0003198; Muscle weakness;HP:0001324 29143597;25914343 False 2 0;100;0 4.165 True ENSG00000068976 ENSG00000068976 HGNC:9726 SLC52A1 gene SLC52A1 Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Maternal riboflavin deficiency MONDO:0014013" Myopathy;HP:0003198; Muscle weakness;HP:0001324 37510312;29122468;21089064 False 2 0;50;50 4.165 True ENSG00000132517 ENSG00000132517 HGNC:30225 SQSTM1 gene SQSTM1 Expert Review Amber;Literature;Expert list;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945;multisystem proteinopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 29599744;26208961;29457785 False 2 33;33;33 4.165 True Other ENSG00000161011 ENSG00000161011 HGNC:11280 SVIL gene SVIL Expert Review Amber;Other;Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myofibrillar myopathy 10 (MIM#619040) Myopathy;HP:0003198; Muscle weakness;HP:0001324 32779703 False 2 0;100;0 4.165 True ENSG00000197321 ENSG00000197321 HGNC:11480 TIA1 gene TIA1 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal myopathy, Welander type MONDO:0011466 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23401021 False 2 0;100;0 4.165 True Other ENSG00000116001 ENSG00000116001 HGNC:11802 TMEM43 gene TMEM43 Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677 Myopathy;HP:0003198; Muscle weakness;HP:0001324 21391237;30311943 False 2 0;100;0 4.165 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC2 gene TNNC2 Expert Review Amber;Other;Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital Myopathy 15 (MIM#62016) Myopathy;HP:0003198; Muscle weakness;HP:0001324 33755597 False 2 50;50;0 4.165 True ENSG00000101470 ENSG00000101470 HGNC:11944 TNNT1 gene TNNT1 Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Nemaline myopathy 5, Amish type MIM#605355" Myopathy;HP:0003198; Muscle weakness;HP:0001324 31970803 False 2 50;50;0 4.165 True ENSG00000105048 ENSG00000105048 HGNC:11948 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility Myopathy;HP:0003198; Muscle weakness;HP:0001324 29930394;32471784 False 2 0;50;50 4.165 False ENSG00000196689 ENSG00000196689 HGNC:12716 TRPV1 gene TRPV1 Expert Review Amber;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exertional heat stroke;rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 32471784 False 2 0;33;67 4.165 True ENSG00000196689 ENSG00000196689 HGNC:12716 TUBA4A gene TUBA4A Expert Review Amber;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 38413182 False 2 0;100;0 4.165 True ENSG00000127824 ENSG00000127824 HGNC:12407 AMACR gene AMACR Expert Review Green;Expert Review Red;Literature;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 20921516 False 1 50;0;50 4.165 True ENSG00000242110 ENSG00000242110 HGNC:451 AMPD1 gene AMPD1 Expert Review Red;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myopathy due to myoadenylate deaminase deficiency 615511;Rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 1 0;0;100 4.165 True ENSG00000116748 ENSG00000116748 HGNC:468 ATP1A2 gene ATP1A2 Expert Review Red;Expert list;Expert Review Red;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalaemic periodic paralysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 30423015 False 1 0;0;100 4.165 True ENSG00000018625 ENSG00000018625 HGNC:800 CACNB1 gene CACNB1 Expert Review Red;Expert list;Expert Review Red;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders ?Malignant hyperthermia susceptibility Myopathy;HP:0003198; Muscle weakness;HP:0001324 27832566;8943043;29212769 False 1 0;0;100 4.165 True ENSG00000067191 ENSG00000067191 HGNC:1401 CACNB1 gene CACNB1 Other;Expert Review Red;Expert list;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders Unknown Malignant hyperthermia susceptibility Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 1 0;0;100 4.165 False ENSG00000067191 ENSG00000067191 HGNC:1401 CASQ1 gene CASQ1 Expert Review Red;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 1 0;0;100 4.165 True ENSG00000143318 ENSG00000143318 HGNC:1512 CHRND gene CHRND Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 1 0;0;100 4.165 True ENSG00000135902 ENSG00000135902 HGNC:1965 COL4A1 gene COL4A1 Expert Review Green;Expert Review Red;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Recurrent rhabdomyolysis;infections;hypertrophic cardiomyopathy. Myopathy;HP:0003198; Muscle weakness;HP:0001324 31540749 False 1 50;25;25 4.165 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;Expert Review Red;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Brain small vessel disease 2 614483" Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 25719457;30315939 False 1 50;0;50 4.165 True Other ENSG00000134871 ENSG00000134871 HGNC:2203 EXOSC3 gene EXOSC3 Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30025162;38982518 False 1 0;0;100 4.165 True ENSG00000107371 ENSG00000107371 HGNC:17944 FKTN gene FKTN Expert Review Red;Royal Melbourne Hospital Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Fukuyama congenital muscular dystrophy Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 1 0;0;100 4.165 True ENSG00000106692 ENSG00000106692 HGNC:3622 FOXP3 gene FOXP3 Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 1 0;0;100 4.165 True ENSG00000049768 ENSG00000049768 HGNC:6106 IDUA gene IDUA Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 1 0;0;100 4.165 True ENSG00000127415 ENSG00000127415 HGNC:5391 KCNE3 gene KCNE3 Expert Review Red;Expert list;Expert Review Red;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic paralysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 14504341;11207363;16449802;15037716;20051516;28356343 False 1 0;0;100 4.165 True ENSG00000175538 ENSG00000175538 HGNC:6243 KCNJ11 gene KCNJ11 Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820 Myopathy;HP:0003198; Muscle weakness;HP:0001324 False 1 50;0;50 4.165 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ18 gene KCNJ18 Expert Review Red;Expert list;Expert Review Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis;{Thyrotoxic periodic paralysis, susceptibility to, 2}, MIM# 613239 Myopathy;HP:0003198; Muscle weakness;HP:0001324 25882930;27178871;20074522;27008341 False 1 0;0;100 4.165 True - ENSG00000260458 HGNC:39080 KCNJ5 gene KCNJ5 Expert Review Red;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen-Tawil Syndrome;periodic muscle paralysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 24574546 False 1 0;0;100 4.165 True ENSG00000120457 ENSG00000120457 HGNC:6266 MMS19 gene MMS19 Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disease, MONDO:0005559, MMS19-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 38411040 False 1 0;0;100 4.165 True ENSG00000155229 ENSG00000155229 HGNC:13824 MYBPC3 gene MYBPC3 Expert Review Red;Expert list;Expert Review Amber;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy with myopathy Myopathy;HP:0003198; Muscle weakness;HP:0001324 PMID: 19858127 False 1 0;50;50 4.165 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH1 gene MYH1 Expert Review Red;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal rhabdomyolysis, MONDO:0005290 Myopathy;HP:0003198; Muscle weakness;HP:0001324 33755318 False 1 0;0;100 4.165 True ENSG00000109061 ENSG00000109061 HGNC:7567 MYH3 gene MYH3 Expert Review Green;Expert Review Red;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted paresthesia;rhabdomyolysis Myopathy;HP:0003198; Muscle weakness;HP:0001324 28779239 False 1 50;0;50 4.165 True ENSG00000109063 ENSG00000109063 HGNC:7573 OPA1 gene OPA1 Expert Review Red;Literature;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal congenital myopathy MONDO:0019952 Myopathy;HP:0003198; Muscle weakness;HP:0001324 38982518 False 1 0;50;50 4.165 True ENSG00000198836 ENSG00000198836 HGNC:8140 PHKB gene PHKB Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Myopathy;HP:0003198; Muscle weakness;HP:0001324 9215682;30397902 False 1 50;0;50 4.165 True ENSG00000102893 ENSG00000102893 HGNC:8927 SOX8 gene SOX8 Expert Review Red;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder (MONDO:0700092), SOX8-related Myopathy;HP:0003198; Muscle weakness;HP:0001324 https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088 False 1 0;0;100 4.165 True ENSG00000005513 ENSG00000005513 HGNC:11203 TCAP gene TCAP Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954) Myopathy;HP:0003198; Muscle weakness;HP:0001324 25055047;22029105;18948002 False 1 50;0;50 4.165 True ENSG00000173991 ENSG00000173991 HGNC:11610 TRAPPC2L gene TRAPPC2L Expert Review Red;Literature;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331 Myopathy;HP:0003198; Muscle weakness;HP:0001324 30120216;32843486 False 1 0;50;50 4.165 True ENSG00000167515 ENSG00000167515 HGNC:30887 TSEN54 gene TSEN54 Expert Review Red;Expert Review Green;Royal Melbourne Hospital;Expert list;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Pontocerebellar hypoplasia type 5 610204;Pontocerebellar hypoplasia type 4 225753;Pontocerebellar hypoplasia type 2A 277470 Myopathy;HP:0003198; Muscle weakness;HP:0001324 23177318 False 1 50;0;50 4.165 True ENSG00000182173 ENSG00000182173 HGNC:27561 TTN gene TTN Expert Review Green;Expert Review Red;Expert Review;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital titinopathy;exercise intolerance Myopathy;HP:0003198; Muscle weakness;HP:0001324 31353864 False 1 67;0;33 4.165 True ENSG00000155657 ENSG00000155657 HGNC:12403 TYMP gene TYMP Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Myopathy Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073 Myopathy;HP:0003198; Muscle weakness;HP:0001324 24199812 False 1 67;0;33 4.165 True ENSG00000025708 ENSG00000025708 HGNC:3148 DM1 str DMPK Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1 MIM#160900 Myopathy;HP:0003198; Muscle weakness;HP:0001324 20301344;29325606 False 3 100;0;0 4.165 True ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 34 50 MRUPAV str PLIN4 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted myopathy, distal, with rimmed vacuoles MONDO:0014945 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32451610;37145156;36151849;35499779 False 3 100;0;0 4.165 True ENSG00000167676 ENSG00000167676 HGNC:29393 19 4510975 4511073 4510963 4511061 ACTGAAGACAGTGTCCTTGGTACCCATAAGCACAGCCTTGGAGGCGTCCACGCCGGTCTGCACGGTTCCTTTGGCCACATTCACTGCCCCCGTGACTCC 31 39 NIID str NOTCH2NL Expert Review Green;Expert list Myopathy Superpanel 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 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31178126;31332381;31819945;33887199;33943039;32250060;31332380;32852534;32989102;34333668 False 3 100;0;0 4.165 True ENSG00000213240 ENSG00000264343 HGNC:31862 1 145209324 145209344 149390803 149390829 GGC 40 60 OPDM1 str LRP12 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 1 MIM#164310 Myopathy;HP:0003198; Muscle weakness;HP:0001324 31332380;34047774 False 3 100;0;0 4.165 True ENSG00000147650 ENSG00000147650 HGNC:31708 8 105601201 105601227 104588973 104588999 CGG 45 85 OPDM2 str GIPC1 Expert Review Green;Expert list Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy 2 MIM#618940 Myopathy;HP:0003198; Muscle weakness;HP:0001324 32413282;33374016 False 3 100;0;0 4.165 True ENSG00000123159 ENSG00000123159 HGNC:1226 19 14606854 14606886 14496042 14496074 CGG 32 70 OPDM4_RILPL1_CGG str RILPL1 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy MONDO:0025193 Myopathy;HP:0003198; Muscle weakness;HP:0001324 35148830 False 3 100;0;0 4.165 True ENSG00000188026 ENSG00000188026 HGNC:26814 12 124018270 124018296 123533723 123533749 CGG 16 139 OPDM_ABCD3_GCC str ABCD3 Expert Review Green;Literature Myopathy Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculopharyngodistal myopathy MONDO:0025193 Myopathy;HP:0003198; Muscle weakness;HP:0001324 39068203 False 3 100;0;0 4.165 True ENSG00000117528 ENSG00000117528 HGNC:67 1 94883977 94883998 94418421 94418442 GCC 50 118