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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":[]},{"gene_data":{"alias":["gamma-BBH","G-BBH","BBH"],"biotype":"protein_coding","hgnc_id":"HGNC:964","gene_name":"gamma-butyrobetaine hydroxylase 1","omim_gene":["603312"],"alias_name":null,"gene_symbol":"BBOX1","hgnc_symbol":"BBOX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:27062272-27149356","ensembl_id":"ENSG00000129151"}},"GRch38":{"90":{"location":"11:27040725-27127809","ensembl_id":"ENSG00000129151"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"BBOX1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41022783"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Carnitine deficiency, MONDO:0017716, BBOX1-related"],"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. 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":[]},{"gene_data":{"alias":["D18S892E","DTN","DTN-1","DTN-2","DTN-3","DRP3"],"biotype":"protein_coding","hgnc_id":"HGNC:3057","gene_name":"dystrobrevin alpha","omim_gene":["601239"],"alias_name":["dystrophin-related protein 3"],"gene_symbol":"DTNA","hgnc_symbol":"DTNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:32073254-32471808","ensembl_id":"ENSG00000134769"}},"GRch38":{"90":{"location":"18:34493290-34891844","ensembl_id":"ENSG00000134769"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"DTNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 36799992"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Muscular dystrophy, MONDO:0020121, DTNA-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["SBA2","MGC10210"],"biotype":"protein_coding","hgnc_id":"HGNC:19222","gene_name":"WD repeat and SOCS box containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"WSB2","hgnc_symbol":"WSB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:118470712-118500235","ensembl_id":"ENSG00000176871"}},"GRch38":{"90":{"location":"12:118032694-118062430","ensembl_id":"ENSG00000176871"}}},"hgnc_date_symbol_changed":"2004-02-20"},"entity_type":"gene","entity_name":"WSB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40374945"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Luo-Agrawal neurodevelopmental syndrome, MIM# 621552"],"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. 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":[]},{"gene_data":{"alias":["B3GN-T4","beta3Gn-T4"],"biotype":"protein_coding","hgnc_id":"HGNC:15683","gene_name":"UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4","omim_gene":["605864"],"alias_name":null,"gene_symbol":"B3GNT4","hgnc_symbol":"B3GNT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122688090-122693499","ensembl_id":"ENSG00000176383"}},"GRch38":{"90":{"location":"12:122203543-122208952","ensembl_id":"ENSG00000176383"}}},"hgnc_date_symbol_changed":"2001-05-14"},"entity_type":"gene","entity_name":"B3GNT4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41444428"],"evidence":["Literature","Literature"],"phenotypes":["Hereditary neurological disease, MONDO:0100545, B3GNT4-related"],"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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