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 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