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It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1094","DK1"],"biotype":"protein_coding","hgnc_id":"HGNC:23406","gene_name":"dolichol kinase","omim_gene":["610746"],"alias_name":["dolichol kinase 1"],"gene_symbol":"DOLK","hgnc_symbol":"DOLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131707809-131709898","ensembl_id":"ENSG00000175283"}},"GRch38":{"90":{"location":"9:128945530-128947619","ensembl_id":"ENSG00000175283"}}},"hgnc_date_symbol_changed":"2007-02-09"},"entity_type":"gene","entity_name":"DOLK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273964","22242004","23890587","30653653","28816422","24144945"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["DK1-CDG, MONDO:0012556","Congenital disorder of glycosylation, type Im, MIM# 610768"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. 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It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2M"],"biotype":"protein_coding","hgnc_id":"HGNC:3622","gene_name":"fukutin","omim_gene":["607440"],"alias_name":null,"gene_symbol":"FKTN","hgnc_symbol":"FKTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108320411-108403399","ensembl_id":"ENSG00000106692"}},"GRch38":{"90":{"location":"9:105558130-105641118","ensembl_id":"ENSG00000106692"}}},"hgnc_date_symbol_changed":"2007-11-21"},"entity_type":"gene","entity_name":"FKTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9690476","19017726","20301385","28680109"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy MONDO:0018276"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. 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It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hCG_1745121","IspD","Nip"],"biotype":"protein_coding","hgnc_id":"HGNC:37276","gene_name":"isoprenoid synthase domain containing","omim_gene":["614631"],"alias_name":["notch1-induced protein","4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"],"gene_symbol":"ISPD","hgnc_symbol":"ISPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:16130817-16460947","ensembl_id":"ENSG00000214960"}},"GRch38":{"90":{"location":"7:16087527-16421322","ensembl_id":"ENSG00000214960"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"ISPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22522421","23217329","23390185","30060766","28688748","26404900"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643","Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","new gene name"],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. 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It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null}]}