Gene Search List
Search Genes
GET /api/v1/genes/?format=api&page=219
{ "count": 35555, "next": "https://panelapp-aus.org/api/v1/genes/?format=api&page=220", "previous": "https://panelapp-aus.org/api/v1/genes/?format=api&page=218", "results": [ { "gene_data": { "alias": [ "Dnchc1", "HL-3", "p22", "DHC1", "CMT2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2961", "gene_name": "dynein cytoplasmic 1 heavy chain 1", "omim_gene": [ "600112" ], "alias_name": null, "gene_symbol": "DYNC1H1", "hgnc_symbol": "DYNC1H1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:102430865-102517129", "ensembl_id": "ENSG00000197102" } }, "GRch38": { "90": { "location": "14:101964528-102050792", "ensembl_id": "ENSG00000197102" } } }, "hgnc_date_symbol_changed": "2005-11-24" }, "entity_type": "gene", "entity_name": "DYNC1H1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "21820100", "32788638", "27549087" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "YTS", "YRS", "tyrRS" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12840", "gene_name": "tyrosyl-tRNA synthetase", "omim_gene": [ "603623" ], "alias_name": [ "tyrosine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "YARS", "hgnc_symbol": "YARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:33240840-33283754", "ensembl_id": "ENSG00000134684" } }, "GRch38": { "90": { "location": "1:32775237-32818153", "ensembl_id": "ENSG00000134684" } } }, "hgnc_date_symbol_changed": "1999-01-29" }, "entity_type": "gene", "entity_name": "YARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16429158", "24354524", "31587308", "26725087" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, dominant intermediate C, MIM# 608323", "MONDO:0012012" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:3239", "gene_name": "early growth response 2", "omim_gene": [ "129010" ], "alias_name": [ "Krox-20 homolog, Drosophila" ], "gene_symbol": "EGR2", "hgnc_symbol": "EGR2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:64571756-64679660", "ensembl_id": "ENSG00000122877" } }, "GRch38": { "90": { "location": "10:62811996-62919900", "ensembl_id": "ENSG00000122877" } } }, "hgnc_date_symbol_changed": "1988-08-31" }, "entity_type": "gene", "entity_name": "EGR2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "11523566", "31852952" ], "evidence": [ "Victorian Clinical Genetics Services", "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green", "Expert Review Green", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 1D 607678 AD", "Dejerine-Sottas disease 145900 AD, AR", "Hypomyelinating neuropathy, congenital, 1 605253 AD, AR" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "IKAP", "TOT1", "IKI3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5959", "gene_name": "elongator complex protein 1", "omim_gene": [ "603722" ], "alias_name": [ "elongator acetyltransferase complex subunit 1" ], "gene_symbol": "ELP1", "hgnc_symbol": "ELP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:111629797-111696396", "ensembl_id": "ENSG00000070061" } }, "GRch38": { "90": { "location": "9:108867517-108934116", "ensembl_id": "ENSG00000070061" } } }, "hgnc_date_symbol_changed": "2017-05-04" }, "entity_type": "gene", "entity_name": "ELP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "11179008", "11179021", "17644305" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Dysautonomia, familial, 223900", "Riley-Day syndrome MONDO:0009131", "Hereditary sensory and autonomic neuropathy 3", "HSAN/SFN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "EVEC", "UP50", "DANCE", "ARMD3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3602", "gene_name": "fibulin 5", "omim_gene": [ "604580" ], "alias_name": null, "gene_symbol": "FBLN5", "hgnc_symbol": "FBLN5", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:92335756-92414331", "ensembl_id": "ENSG00000140092" } }, "GRch38": { "90": { "location": "14:91869412-91947987", "ensembl_id": "ENSG00000140092" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "FBLN5", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "32757322", "31945625", "23328402", "28332470" ], "evidence": [ "Victorian Clinical Genetics Services", "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "HMSN", "Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MOKA", "SP329", "FLJ13962", "Fbx38" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28844", "gene_name": "F-box protein 38", "omim_gene": [ "608533" ], "alias_name": null, "gene_symbol": "FBXO38", "hgnc_symbol": "FBXO38", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:147763498-147822399", "ensembl_id": "ENSG00000145868" } }, "GRch38": { "90": { "location": "5:148383935-148442836", "ensembl_id": "ENSG00000145868" } } }, "hgnc_date_symbol_changed": "2004-06-15" }, "entity_type": "gene", "entity_name": "FBXO38", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Royal Melbourne Hospital", "Expert Review Amber", "Expert Review Amber" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type IID, 615575", "dHMN/dSMA" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FRABP", "frabin", "ZFYVE6", "CMT4H" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19125", "gene_name": "FYVE, RhoGEF and PH domain containing 4", "omim_gene": [ "611104" ], "alias_name": null, "gene_symbol": "FGD4", "hgnc_symbol": "FGD4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:32552463-32798984", "ensembl_id": "ENSG00000139132" } }, "GRch38": { "90": { "location": "12:32399529-32646050", "ensembl_id": "ENSG00000139132" } } }, "hgnc_date_symbol_changed": "2003-11-25" }, "entity_type": "gene", "entity_name": "FGD4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17564959", "31152969", "28847448", "28543957" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot Marie Tooth disease, type 4H, 609311", "MONDO:0012250", "HMSN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "HYPE", "HIP13" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18416", "gene_name": "FIC domain containing", "omim_gene": null, "alias_name": [ "huntingtin interacting protein 13", "fic S-phase protein cell division homolog (E. coli)" ], "gene_symbol": "FICD", "hgnc_symbol": "FICD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:108908962-108919614", "ensembl_id": "ENSG00000198855" } }, "GRch38": { "90": { "location": "12:108515185-108525837", "ensembl_id": "ENSG00000198855" } } }, "hgnc_date_symbol_changed": "2007-12-04" }, "entity_type": "gene", "entity_name": "FICD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36136088" ], "evidence": [ "Literature", "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [ "Spastic paraplegia 92, autosomal recessive, MIM# 620911" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SAC3", "hSac3", "dJ249I4.1", "ALS11", "CMT4J" ], "biotype": "protein_coding", "hgnc_id": "HGNC:16873", "gene_name": "FIG4 phosphoinositide 5-phosphatase", "omim_gene": [ "609390" ], "alias_name": null, "gene_symbol": "FIG4", "hgnc_symbol": "FIG4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:110012499-110146631", "ensembl_id": "ENSG00000112367" } }, "GRch38": { "90": { "location": "6:109691312-109825428", "ensembl_id": "ENSG00000112367" } } }, "hgnc_date_symbol_changed": "2007-07-30" }, "entity_type": "gene", "entity_name": "FIG4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17572665", "21705420", "24878229" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, type 4J, MIM# 611228", "MONDO:0012640", "HMSN" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "GlyRS", "DSMAV", "SMAD1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4162", "gene_name": "glycyl-tRNA synthetase", "omim_gene": [ "600287" ], "alias_name": [ "glycine tRNA ligase" ], "gene_symbol": "GARS", "hgnc_symbol": "GARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:30634297-30673649", "ensembl_id": "ENSG00000106105" } }, "GRch38": { "90": { "location": "7:30594681-30634033", "ensembl_id": "ENSG00000106105" } } }, "hgnc_date_symbol_changed": "1995-03-21" }, "entity_type": "gene", "entity_name": "GARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "17101916", "22462675", "31985473", "32181591", "12690580", "25168514", "26503042", "29648643", "16982418" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "HMSN, dHMN/dSMA", "Spinal muscular atrophy, infantile, James type, MIM# 619042", "Neuropathy, distal hereditary motor, type V, 600794", "Charcot Marie Tooth disease, type 2D, 601472" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [ "new gene name" ], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0248", "ARF1GEF" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4181", "gene_name": "golgi brefeldin A resistant guanine nucleotide exchange factor 1", "omim_gene": [ "603698" ], "alias_name": null, "gene_symbol": "GBF1", "hgnc_symbol": "GBF1", 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"child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMT4", "CMT2K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15968", "gene_name": "ganglioside induced differentiation associated protein 1", "omim_gene": [ "606598" ], "alias_name": null, "gene_symbol": "GDAP1", "hgnc_symbol": "GDAP1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:75233365-75401107", "ensembl_id": "ENSG00000104381" } }, "GRch38": { "90": { "location": "8:74321130-74488872", "ensembl_id": "ENSG00000104381" } } }, "hgnc_date_symbol_changed": "2001-06-25" }, "entity_type": "gene", "entity_name": "GDAP1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "16172208", "21753178", "21365284", "20232219", "11743580" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, 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"2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CX32" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4283", "gene_name": "gap junction protein beta 1", "omim_gene": [ "304040" ], "alias_name": [ "Charcot-Marie-Tooth neuropathy, X-linked", "connexin 32" ], "gene_symbol": "GJB1", "hgnc_symbol": "GJB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:70435044-70445366", "ensembl_id": "ENSG00000169562" } }, "GRch38": { "90": { "location": "X:71215194-71225516", "ensembl_id": "ENSG00000169562" } } }, "hgnc_date_symbol_changed": "1990-02-12" }, "entity_type": "gene", "entity_name": "GJB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "8266101", "17100997", "17353473" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800", "MONDO:0010549", "HMSN" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a 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"transcript": null }, { "gene_data": { "alias": [ "HSAN2", "PPP1R167" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14540", "gene_name": "WNK lysine deficient protein kinase 1", "omim_gene": [ "605232" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 167" ], "gene_symbol": "WNK1", "hgnc_symbol": "WNK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:861759-1020618", "ensembl_id": "ENSG00000060237" } }, "GRch38": { "90": { "location": "12:752593-911452", "ensembl_id": "ENSG00000060237" } } }, "hgnc_date_symbol_changed": "2005-01-21" }, "entity_type": "gene", "entity_name": "WNK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15060842", "15911806", "15455397", "16534117" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "HSAN/SFN", "Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300", "MONDO:0024309" ], 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"version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:12718", "gene_name": "vaccinia related kinase 1", "omim_gene": [ "602168" ], "alias_name": null, "gene_symbol": "VRK1", "hgnc_symbol": "VRK1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:97263641-97398059", "ensembl_id": "ENSG00000100749" } }, "GRch38": { "90": { "location": "14:96797304-96931722", "ensembl_id": "ENSG00000100749" } } }, "hgnc_date_symbol_changed": "1997-06-12" }, "entity_type": "gene", "entity_name": "VRK1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "31560180", "32242460", "31178479", "31837156", "30847374" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert Review Green" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or 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}, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "VAP-B", "VAP-C", "ALS8" ], "biotype": "protein_coding", "hgnc_id": "HGNC:12649", "gene_name": "VAMP associated protein B and C", "omim_gene": [ "605704" ], "alias_name": null, "gene_symbol": "VAPB", "hgnc_symbol": "VAPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:56964178-57026157", "ensembl_id": "ENSG00000124164" } }, "GRch38": { "90": { "location": "20:58389122-58451101", "ensembl_id": "ENSG00000124164" } } }, "hgnc_date_symbol_changed": "1999-03-19" }, "entity_type": "gene", "entity_name": "VAPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "15372378", "32162544", "28993872", "28173107", "26566915" ], "evidence": [ "Royal Melbourne Hospital", "Expert Review Green", "Expert 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"2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "ETFQO" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3483", "gene_name": "electron transfer flavoprotein dehydrogenase", "omim_gene": [ "231675" ], "alias_name": null, "gene_symbol": "ETFDH", "hgnc_symbol": "ETFDH", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:159593277-159630775", "ensembl_id": "ENSG00000171503" } }, "GRch38": { "90": { 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"omim_gene": [ "191342" ], "alias_name": [ "ubiquitin thiolesterase" ], "gene_symbol": "UCHL1", "hgnc_symbol": "UCHL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:41258430-41270472", "ensembl_id": "ENSG00000154277" } }, "GRch38": { "90": { "location": "4:41256413-41268455", "ensembl_id": "ENSG00000154277" } } }, "hgnc_date_symbol_changed": "1991-07-15" }, "entity_type": "gene", "entity_name": "UCHL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35986737" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodegenerative disease, MONDO:0005559, UCHL1-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the 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"description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SMVT" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11041", "gene_name": "solute carrier family 5 member 6", "omim_gene": [ "604024" ], "alias_name": null, "gene_symbol": "SLC5A6", "hgnc_symbol": "SLC5A6", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27422455-27435826", "ensembl_id": "ENSG00000138074" } }, "GRch38": { "90": { "location": "2:27199587-27212958", "ensembl_id": "ENSG00000138074" } } }, "hgnc_date_symbol_changed": "1999-01-19" }, "entity_type": "gene", "entity_name": "SLC5A6", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35013551" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Peripheral motor neuropathy, childhood-onset, biotin-responsive, MIM# 619903" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { 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Review Green", "Expert Review" ], "phenotypes": [ "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, MONDO:0011766" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DKFZp586M121", "gp115" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19880", "gene_name": "elastin microfibril interfacer 1", "omim_gene": [ "130660" ], "alias_name": null, "gene_symbol": "EMILIN1", "hgnc_symbol": "EMILIN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:27301435-27309271", "ensembl_id": "ENSG00000138080" } }, "GRch38": { "90": { "location": "2:27078567-27086408", "ensembl_id": "ENSG00000138080" } } }, "hgnc_date_symbol_changed": "2003-07-16" }, "entity_type": "gene", "entity_name": "EMILIN1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "31978608", "26462740" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, type X, MIM# 620080", "Peripheral neuropathy", "aortic aneurysm" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- 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"XRCC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:44047192-44084625", "ensembl_id": "ENSG00000073050" } }, "GRch38": { "90": { "location": "19:43543040-43580473", "ensembl_id": "ENSG00000073050" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "XRCC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28002403", "29472272" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 26 MIM#617633" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological 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"CHIP", "SDCCAG7", "HSPABP2", "NY-CO-7" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11427", "gene_name": "STIP1 homology and U-box containing protein 1", "omim_gene": [ "607207" ], "alias_name": null, "gene_symbol": "STUB1", "hgnc_symbol": "STUB1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:730224-732870", "ensembl_id": "ENSG00000103266" } }, "GRch38": { "90": { "location": "16:680224-682870", "ensembl_id": "ENSG00000103266" } } }, "hgnc_date_symbol_changed": "1999-11-25" }, "entity_type": "gene", "entity_name": "STUB1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32342324", "32337344" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Spinocerebellar ataxia, autosomal recessive 16, MIM#\t615768" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PALMCOX" ], "biotype": "protein_coding", "hgnc_id": "HGNC:119", "gene_name": "acyl-CoA oxidase 1", "omim_gene": [ "609751" ], "alias_name": [ "palmitoyl-CoA oxidase" ], "gene_symbol": "ACOX1", "hgnc_symbol": "ACOX1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73937588-73975515", "ensembl_id": "ENSG00000161533" } }, "GRch38": { "90": { "location": "17:75941507-75979363", "ensembl_id": "ENSG00000161533" } } }, "hgnc_date_symbol_changed": "1994-02-11" }, "entity_type": "gene", "entity_name": "ACOX1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32169171" ], "evidence": [ "Expert Review Green", "Expert list" ], "phenotypes": [ "Mitchell syndrome, MIM# 618960" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SPL" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10817", "gene_name": "sphingosine-1-phosphate lyase 1", "omim_gene": [ "603729" ], "alias_name": null, "gene_symbol": "SGPL1", "hgnc_symbol": "SGPL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:72575717-72640930", "ensembl_id": "ENSG00000166224" } }, "GRch38": { "90": { "location": "10:70815961-70881173", "ensembl_id": "ENSG00000166224" } } }, "hgnc_date_symbol_changed": "1999-02-03" }, "entity_type": "gene", "entity_name": "SGPL1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28077491", "28165339", "30274713", "28165343" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "RENI syndrome (MIM#617575)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC19604" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30546", "gene_name": "ferredoxin 2", "omim_gene": [ "614585" ], "alias_name": null, "gene_symbol": "FDX2", "hgnc_symbol": "FDX2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10416103-10426691", "ensembl_id": "ENSG00000267673" } }, "GRch38": { "90": { "location": "19:10310045-10316015", "ensembl_id": "ENSG00000267673" } } }, "hgnc_date_symbol_changed": "2016-05-27" }, "entity_type": "gene", "entity_name": "FDX2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30010796", "24281368", "28803783" ], "evidence": [ "Expert Review Amber", "Expert Review" ], "phenotypes": [ "Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy\t(MIM#251900)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy 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], "alias_name": [ "asparagine tRNA ligase 1, cytoplasmic" ], "gene_symbol": "NARS", "hgnc_symbol": "NARS", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:55267888-55289445", "ensembl_id": "ENSG00000134440" } }, "GRch38": { "90": { "location": "18:57600656-57622213", "ensembl_id": "ENSG00000134440" } } }, "hgnc_date_symbol_changed": "1986-01-01" }, "entity_type": "gene", "entity_name": "NARS", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32738225" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (NEDMILG), MIM#619091", "Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG), MIM#619092", "Abnormal muscle tone", "Microcephaly", "Global developmental delay", "Intellectual disability", "Seizures", "Ataxia", "Abnormality of the face", "Demyelinating peripheral neuropathy" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ARH3", "FLJ20446" ], "biotype": "protein_coding", "hgnc_id": "HGNC:21304", "gene_name": "ADP-ribosylhydrolase like 2", "omim_gene": [ "610624" ], "alias_name": [ "ADP-ribosylarginine hydrolase like 2" ], "gene_symbol": "ADPRHL2", "hgnc_symbol": "ADPRHL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:36554476-36559533", "ensembl_id": "ENSG00000116863" } }, "GRch38": { "90": { "location": "1:36088875-36093932", "ensembl_id": "ENSG00000116863" } } }, "hgnc_date_symbol_changed": "2003-06-19" }, "entity_type": "gene", "entity_name": "ADPRHL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30100084", "30401461" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PNK", "PKH", "FLJ21324", "PRED79", "FLJ31940", "MGC15873" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8819", "gene_name": "pyridoxal kinase", "omim_gene": [ "179020" ], "alias_name": null, "gene_symbol": "PDXK", "hgnc_symbol": "PDXK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "21:45138975-45182188", "ensembl_id": "ENSG00000160209" } }, "GRch38": { "90": { "location": "21:43719094-43762307", "ensembl_id": "ENSG00000160209" } } }, "hgnc_date_symbol_changed": "1998-12-03" }, "entity_type": "gene", "entity_name": "PDXK", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32522499", "31187503", "27604308" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Axonal polyneuropathy", "optic atrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including 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"alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:8049", "gene_name": "nudix hydrolase 2", "omim_gene": [ "602852" ], "alias_name": [ "Ap4A hydrolase 1", "Ap4Aase", "bis(5'-nucleosyl)-tetraphosphatase (asymmetrical)", "diadenosine tetraphosphatase", "diadenosine 5',5''-P1,P4-tetraphosphate pyrophosphohydrolase" ], "gene_symbol": "NUDT2", "hgnc_symbol": "NUDT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:34329504-34343709", "ensembl_id": "ENSG00000164978" } }, "GRch38": { "90": { "location": "9:34329506-34343713", "ensembl_id": "ENSG00000164978" } } }, "hgnc_date_symbol_changed": "1997-04-25" }, "entity_type": "gene", "entity_name": "NUDT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33058507", "27431290", "30059600", "33058507" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular hypotonia", "Global developmental delay", "Intellectual disability", "Polyneuropathy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "ZCW3", "KIAA0852", "AC004542.C22.1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23573", "gene_name": "MORC family CW-type zinc finger 2", "omim_gene": [ "616661" ], "alias_name": null, "gene_symbol": "MORC2", "hgnc_symbol": "MORC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:31321117-31364284", "ensembl_id": "ENSG00000133422" } }, "GRch38": { "90": { "location": "22:30925130-30968298", "ensembl_id": "ENSG00000133422" } } }, "hgnc_date_symbol_changed": "2005-06-15" }, "entity_type": "gene", "entity_name": "MORC2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32693025", "26497905", "26659848" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "TBP1", "TBP-1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9549", "gene_name": "proteasome 26S subunit, ATPase 3", "omim_gene": [ "186852" ], "alias_name": null, "gene_symbol": "PSMC3", "hgnc_symbol": "PSMC3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:47440320-47447993", "ensembl_id": "ENSG00000165916" } }, "GRch38": { "90": { "location": "11:47418769-47426473", "ensembl_id": "ENSG00000165916" } } }, "hgnc_date_symbol_changed": "1995-12-06" }, "entity_type": "gene", "entity_name": "PSMC3", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32500975" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PM/Scl-75", "Rrp45p", "RRP45", "p5", "p6" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9137", "gene_name": "exosome component 9", "omim_gene": [ "606180" ], "alias_name": [ "polymyositis/scleroderma autoantigen 1 (75kD)" ], "gene_symbol": "EXOSC9", "hgnc_symbol": "EXOSC9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:122722472-122738176", "ensembl_id": "ENSG00000123737" } }, "GRch38": { "90": { "location": "4:121801317-121817021", "ensembl_id": "ENSG00000123737" } } }, "hgnc_date_symbol_changed": "2004-06-18" }, "entity_type": "gene", "entity_name": "EXOSC9", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30690203", "29727687" ], "evidence": [ "Expert Review Green", "Expert Review" ], "phenotypes": [ "Pontocerebellar hypoplasia, type 1D, MIM# 618065" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental 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"Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MTMR5", "DENND7A" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10542", "gene_name": "SET binding factor 1", "omim_gene": [ "603560" ], "alias_name": [ "myotubularin related 5", "DENN/MADD domain containing 7A" ], "gene_symbol": "SBF1", "hgnc_symbol": "SBF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:50883429-50913454", "ensembl_id": "ENSG00000100241" } }, "GRch38": { "90": { "location": "22:50445000-50475024", "ensembl_id": "ENSG00000100241" } } }, "hgnc_date_symbol_changed": "1998-07-28" }, "entity_type": "gene", "entity_name": "SBF1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23749797", "23749797", "32444983", "30039846", "28005197" ], "evidence": [ "Expert Review Green", "Expert 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"number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RPC2", "FLJ10388" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30348", "gene_name": "RNA polymerase III subunit B", "omim_gene": [ "614366" ], "alias_name": null, "gene_symbol": "POLR3B", "hgnc_symbol": "POLR3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:106751436-106903976", "ensembl_id": "ENSG00000013503" } }, "GRch38": { "90": { "location": "12:106357658-106510198", "ensembl_id": "ENSG00000013503" } } }, "hgnc_date_symbol_changed": "2004-04-21" }, "entity_type": "gene", "entity_name": "POLR3B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 33417887" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Charcot-Marie-Tooth disease, demyelinating, type 1I, MIM# 619742" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and 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"transcript": [] }, { "gene_data": { "alias": [ "DNC", "MUP1", "TPC" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14409", "gene_name": "solute carrier family 25 member 19", "omim_gene": [ "606521" ], "alias_name": null, "gene_symbol": "SLC25A19", "hgnc_symbol": "SLC25A19", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:73269073-73285591", "ensembl_id": "ENSG00000125454" } }, "GRch38": { "90": { "location": "17:75272981-75289510", "ensembl_id": "ENSG00000125454" } } }, "hgnc_date_symbol_changed": "2001-09-27" }, "entity_type": "gene", "entity_name": "SLC25A19", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301539" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0013382" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": 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"slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ22187", "MGA3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8142", "gene_name": "OPA3, outer mitochondrial membrane lipid metabolism regulator", "omim_gene": [ "606580" ], "alias_name": null, "gene_symbol": "OPA3", "hgnc_symbol": "OPA3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:46030685-46105470", "ensembl_id": "ENSG00000125741" } }, "GRch38": { "90": { "location": "19:45527427-45602212", "ensembl_id": "ENSG00000125741" } } }, "hgnc_date_symbol_changed": "1999-03-12" }, "entity_type": "gene", "entity_name": "OPA3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "31119193", "28050599" ], "evidence": [ "Expert 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"number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ10407", "NET3" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25525", "gene_name": "NDC1 transmembrane nucleoporin", "omim_gene": [ "610115" ], "alias_name": [ "nuclear division cycle 1 homolog (S. cerevisiae)" ], "gene_symbol": "NDC1", "hgnc_symbol": "NDC1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:54231133-54304533", "ensembl_id": "ENSG00000058804" } }, "GRch38": { "90": { "location": "1:53765460-53838860", "ensembl_id": "ENSG00000058804" } } }, "hgnc_date_symbol_changed": "2013-05-23" }, "entity_type": "gene", "entity_name": "NDC1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "39003500", "19782045" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima, MIM# 621328" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HREV107", "H-REV107-1", "HREV107-3", "MGC118754.", "AdPLA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17825", "gene_name": "phospholipase A2 group XVI", "omim_gene": [ "613867" ], "alias_name": [ "adipose-specific PLA2" ], "gene_symbol": "PLA2G16", "hgnc_symbol": "PLA2G16", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "11:63340667-63384355", "ensembl_id": "ENSG00000176485" } }, "GRch38": { "90": { "location": "11:63573195-63616883", "ensembl_id": "ENSG00000176485" } } }, "hgnc_date_symbol_changed": "2008-09-19" }, "entity_type": "gene", "entity_name": "PLA2G16", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37919452" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Lipodystrophy, familial partial, type 9, MIM# 620683" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CLK-1", "CAT5" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2244", "gene_name": "coenzyme Q7, hydroxylase", "omim_gene": [ "601683" ], "alias_name": [ "5-demethoxyubiquinone hydroxylase" ], "gene_symbol": "COQ7", "hgnc_symbol": "COQ7", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "16:19078921-19091417", "ensembl_id": "ENSG00000167186" } }, "GRch38": { "90": { "location": "16:19067599-19080095", "ensembl_id": "ENSG00000167186" } } }, "hgnc_date_symbol_changed": "1998-09-29" }, "entity_type": "gene", "entity_name": "COQ7", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 36454683", "36758993", "36759155" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Neuronopathy, distal hereditary motor, autosomal recessive 9, MIM# 620402" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3070, "hash_id": null, "name": "Hereditary Neuropathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),", "status": "public", "version": "1.190", "version_created": "2026-03-31T19:04:58.660686+11:00", "relevant_disorders": [ "Peripheral neuropathy", "HP:0009830" ], "stats": { "number_of_genes": 277, "number_of_strs": 6, "number_of_regions": 2 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC21981" ], "biotype": "protein_coding", "hgnc_id": "HGNC:23673", "gene_name": "MAM domain containing 2", "omim_gene": [ "612879" ], "alias_name": null, "gene_symbol": "MAMDC2", "hgnc_symbol": "MAMDC2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:72658497-72841886", "ensembl_id": "ENSG00000165072" } }, "GRch38": { "90": { "location": "9:70043581-70226970", "ensembl_id": "ENSG00000165072" } } }, "hgnc_date_symbol_changed": "2003-12-01" }, "entity_type": "gene", "entity_name": "MAMDC2", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37503746" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Muscular Dystrophy MONDO:0020121, MAMDC2-related" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:1955", "gene_name": "cholinergic receptor nicotinic alpha 1 subunit", "omim_gene": [ "100690" ], "alias_name": [ "acetylcholine receptor, nicotinic, alpha 1 (muscle)" ], "gene_symbol": "CHRNA1", "hgnc_symbol": "CHRNA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:175612320-175629200", "ensembl_id": "ENSG00000138435" } }, "GRch38": { "90": { "location": "2:174747592-174787935", "ensembl_id": "ENSG00000138435" } } }, "hgnc_date_symbol_changed": "1989-05-25" }, "entity_type": "gene", "entity_name": "CHRNA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36634413" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:4699", "gene_name": "glycogenin 1", "omim_gene": [ "603942" ], "alias_name": [ "glycogenin glucosyltransferase" ], "gene_symbol": "GYG1", "hgnc_symbol": "GYG1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:148709128-148745419", "ensembl_id": "ENSG00000163754" } }, "GRch38": { "90": { "location": "3:148991341-149027668", "ensembl_id": "ENSG00000163754" } } }, "hgnc_date_symbol_changed": "2005-11-04" }, "entity_type": "gene", "entity_name": "GYG1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "29422440", "32477874", "32528171" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Polyglucosan body myopathy 2, MIM# 616199", "Glycogen storage disease XV , MIM# 613507" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "RYR", "PPP1R137" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10483", "gene_name": "ryanodine receptor 1", "omim_gene": [ "180901" ], "alias_name": [ "protein phosphatase 1, regulatory subunit 137" ], "gene_symbol": "RYR1", "hgnc_symbol": "RYR1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:38924339-39078204", "ensembl_id": "ENSG00000196218" } }, "GRch38": { "90": { "location": "19:38433699-38587564", "ensembl_id": "ENSG00000196218" } } }, "hgnc_date_symbol_changed": "1989-12-01" }, "entity_type": "gene", "entity_name": "RYR1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "30842289", "33458580" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "calf predominant distal myopathy", "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "NEB177D" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7720", "gene_name": "nebulin", "omim_gene": [ "161650" ], "alias_name": [ "nemaline myopathy type 2" ], "gene_symbol": "NEB", "hgnc_symbol": "NEB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:152341850-152591001", "ensembl_id": "ENSG00000183091" } }, "GRch38": { "90": { "location": "2:151485336-151734487", "ensembl_id": "ENSG00000183091" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "NEB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21724397", "17525139", "33458580", "25205138" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA1354", "FLJ13568" ], "biotype": "protein_coding", "hgnc_id": "HGNC:18732", "gene_name": "kelch like family member 9", "omim_gene": [ "611201" ], "alias_name": null, "gene_symbol": "KLHL9", "hgnc_symbol": "KLHL9", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:21329670-21335379", "ensembl_id": "ENSG00000198642" } }, "GRch38": { "90": { "location": "9:21329671-21335380", "ensembl_id": "ENSG00000198642" } } }, "hgnc_date_symbol_changed": "2002-06-12" }, "entity_type": "gene", "entity_name": "KLHL9", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20554658", "40818927", "33458580" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "H11", "E2IG1", "HSP22", "HspB8", "CMT2L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30171", "gene_name": "heat shock protein family B (small) member 8", "omim_gene": [ "608014" ], "alias_name": null, "gene_symbol": "HSPB8", "hgnc_symbol": "HSPB8", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:119616447-119658936", "ensembl_id": "ENSG00000152137" } }, "GRch38": { "90": { "location": "12:119178642-119221131", "ensembl_id": "ENSG00000152137" } } }, "hgnc_date_symbol_changed": "2004-01-29" }, "entity_type": "gene", "entity_name": "HSPB8", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "32165108", "26718575", "31403083", "28780615" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, myofibrillar, 13, with rimmed vacuoles, MIM# 621078", "autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DYNII", "DYN2", "CMTDIB", "CMTDI1", "DI-CMTB", "CMT2M" ], "biotype": "protein_coding", "hgnc_id": "HGNC:2974", "gene_name": "dynamin 2", "omim_gene": [ "602378" ], "alias_name": [ "dynamin II", "cytoskeletal protein" ], "gene_symbol": "DNM2", "hgnc_symbol": "DNM2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "19:10828755-10944164", "ensembl_id": "ENSG00000079805" } }, "GRch38": { "90": { "location": "19:10718079-10833488", "ensembl_id": "ENSG00000079805" } } }, "hgnc_date_symbol_changed": "1996-10-11" }, "entity_type": "gene", "entity_name": "DNM2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "16227997", "33458580", "30232666", "24465259", "23938035" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "autosomal dominant centronuclear myopathy MONDO:0008048" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PVALB" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6915", "gene_name": "myoglobin", "omim_gene": [ "160000" ], "alias_name": null, "gene_symbol": "MB", "hgnc_symbol": "MB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:36002811-36033998", "ensembl_id": "ENSG00000198125" } }, "GRch38": { "90": { "location": "22:35606764-35637951", "ensembl_id": "ENSG00000198125" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "35527200", "30918256" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green", "Literature" ], "phenotypes": [ "Myopathy, sarcoplasmic body MIM#620286" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "CHETK" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1938", "gene_name": "choline kinase beta", "omim_gene": [ "612395" ], "alias_name": null, "gene_symbol": "CHKB", "hgnc_symbol": "CHKB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "22:51017378-51039884", "ensembl_id": "ENSG00000100288" } }, "GRch38": { "90": { "location": "22:50578949-50601455", "ensembl_id": "ENSG00000100288" } } }, "hgnc_date_symbol_changed": "2004-04-19" }, "entity_type": "gene", "entity_name": "CHKB", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "37011121" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "megaconial type congenital muscular dystrophy MONDO:0011246", "CHKB-Related Muscular Dystrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5006", "gene_name": "3-hydroxy-3-methylglutaryl-CoA reductase", "omim_gene": [ "142910" ], "alias_name": [ "hydroxymethylglutaryl-CoA reductase", "3-hydroxy-3-methylglutaryl CoA reductase (NADPH)" ], "gene_symbol": "HMGCR", "hgnc_symbol": "HMGCR", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:74632154-74657929", "ensembl_id": "ENSG00000113161" } }, "GRch38": { "90": { "location": "5:75336329-75362104", "ensembl_id": "ENSG00000113161" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "HMGCR", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "PMID: 37167966", "36745799" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "UNC45" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14304", "gene_name": "unc-45 myosin chaperone B", "omim_gene": [ "611220" ], "alias_name": null, "gene_symbol": "UNC45B", "hgnc_symbol": "UNC45B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:33474836-33516364", "ensembl_id": "ENSG00000141161" } }, "GRch38": { "90": { "location": "17:35147817-35189345", "ensembl_id": "ENSG00000141161" } } }, "hgnc_date_symbol_changed": "2005-11-17" }, "entity_type": "gene", "entity_name": "UNC45B", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33217308", "31852522" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green", "Literature" ], "phenotypes": [ "Myofibrillar myopathy 11 (MIM#619178)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11480", "gene_name": "supervillin", "omim_gene": [ "604126" ], "alias_name": [ "archvillin" ], "gene_symbol": "SVIL", "hgnc_symbol": "SVIL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:29746267-30025710", "ensembl_id": "ENSG00000197321" } }, "GRch38": { "90": { "location": "10:29457338-29736781", "ensembl_id": "ENSG00000197321" } } }, "hgnc_date_symbol_changed": "1998-05-07" }, "entity_type": "gene", "entity_name": "SVIL", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32779703" ], "evidence": [ "Expert Review Amber", "Other", "Expert Review Amber", "Literature" ], "phenotypes": [ "Myofibrillar myopathy 10 (MIM#619040)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "CMH10" ], "biotype": "protein_coding", "hgnc_id": "HGNC:7583", "gene_name": "myosin light chain 2", "omim_gene": [ "160781" ], "alias_name": [ "cardiac ventricular myosin light chain 2" ], "gene_symbol": "MYL2", "hgnc_symbol": "MYL2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:111348623-111358526", "ensembl_id": "ENSG00000111245" } }, "GRch38": { "90": { "location": "12:110910819-110920722", "ensembl_id": "ENSG00000111245" } } }, "hgnc_date_symbol_changed": "1991-11-21" }, "entity_type": "gene", "entity_name": "MYL2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23365102", "9673982" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green" ], "phenotypes": [ "Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy (MIM#619424)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ33207" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26576", "gene_name": "kyphoscoliosis peptidase", "omim_gene": [ "605739" ], "alias_name": null, "gene_symbol": "KY", "hgnc_symbol": "KY", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:134321980-134370478", "ensembl_id": "ENSG00000174611" } }, "GRch38": { "90": { "location": "3:134603138-134651636", "ensembl_id": "ENSG00000174611" } } }, "hgnc_date_symbol_changed": "2004-06-25" }, "entity_type": "gene", "entity_name": "KY", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27484770", "27485408", "30591934", "11136708" ], "evidence": [ "Expert Review Green", "Other", "Expert Review Green" ], "phenotypes": [ "Myopathy, myofibrillar, 7 (MIM#617114)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA0986" ], "biotype": "protein_coding", "hgnc_id": "HGNC:1908", "gene_name": "vacuolar protein sorting 13 homolog A", "omim_gene": [ "605978" ], "alias_name": [ "chorein" ], "gene_symbol": "VPS13A", "hgnc_symbol": "VPS13A", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:79792269-80036457", "ensembl_id": "ENSG00000197969" } }, "GRch38": { "90": { "location": "9:77177353-77421541", "ensembl_id": "ENSG00000197969" } } }, "hgnc_date_symbol_changed": "2004-02-11" }, "entity_type": "gene", "entity_name": "VPS13A", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "33652783", "20301561" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "chorea-acanthocytosis MONDO:0008695" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "MGC3222", "DKFZp586G1919", "LUMA" ], "biotype": "protein_coding", "hgnc_id": "HGNC:28472", "gene_name": "transmembrane protein 43", "omim_gene": [ "612048" ], "alias_name": null, "gene_symbol": "TMEM43", "hgnc_symbol": "TMEM43", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:14166440-14185179", "ensembl_id": "ENSG00000170876" } }, "GRch38": { "90": { "location": "3:14124940-14143679", "ensembl_id": "ENSG00000170876" } } }, "hgnc_date_symbol_changed": "2005-01-24" }, "entity_type": "gene", "entity_name": "TMEM43", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "21391237", "30311943" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:11802", "gene_name": "TIA1 cytotoxic granule associated RNA binding protein", "omim_gene": [ "603518" ], "alias_name": [ "T-cell-restricted intracellular antigen-1", "nucleolysin TIA-1 isoform p40" ], "gene_symbol": "TIA1", "hgnc_symbol": "TIA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:70436576-70475792", "ensembl_id": "ENSG00000116001" } }, "GRch38": { "90": { "location": "2:70209444-70248660", "ensembl_id": "ENSG00000116001" } } }, "hgnc_date_symbol_changed": "1995-11-01" }, "entity_type": "gene", "entity_name": "TIA1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "23401021" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "distal myopathy, Welander type MONDO:0011466" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "p62", "p60", "p62B", "A170" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11280", "gene_name": "sequestosome 1", "omim_gene": [ "601530" ], "alias_name": null, "gene_symbol": "SQSTM1", "hgnc_symbol": "SQSTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:179233388-179265078", "ensembl_id": "ENSG00000161011" } }, "GRch38": { "90": { "location": "5:179806398-179838078", "ensembl_id": "ENSG00000161011" } } }, "hgnc_date_symbol_changed": "2000-06-13" }, "entity_type": "gene", "entity_name": "SQSTM1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "29599744", "26208961", "29457785" ], "evidence": [ "Expert Review Amber", "Literature", "Expert list", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "myopathy, distal, with rimmed vacuoles MONDO:0014945", "multisystem proteinopathy" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "DFNX4" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11122", "gene_name": "small muscle protein, X-linked", "omim_gene": [ "300226" ], "alias_name": null, "gene_symbol": "SMPX", "hgnc_symbol": "SMPX", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:21724090-21776281", "ensembl_id": "ENSG00000091482" } }, "GRch38": { "90": { "location": "X:21705972-21758163", "ensembl_id": "ENSG00000091482" } } }, "hgnc_date_symbol_changed": "1999-03-18" }, "entity_type": "gene", "entity_name": "SMPX", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "33974137" ], "evidence": [ "Expert Review Green", "Literature", "Literature" ], "phenotypes": [ "Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PAB2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:8565", "gene_name": "poly(A) binding protein nuclear 1", "omim_gene": [ "602279" ], "alias_name": null, "gene_symbol": "PABPN1", "hgnc_symbol": "PABPN1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:23790498-23795394", "ensembl_id": "ENSG00000100836" } }, "GRch38": { "90": { "location": "14:23321289-23326185", "ensembl_id": "ENSG00000100836" } } }, "hgnc_date_symbol_changed": "1995-05-01" }, "entity_type": "gene", "entity_name": "PABPN1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19080757", "33805441", "16648376" ], "evidence": [ "Expert Review Green", "Other" ], "phenotypes": [ "oculopharyngeal muscular dystrophy MONDO:0008116" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0723", "MGC9105", "VCPDM" ], "biotype": "protein_coding", "hgnc_id": "HGNC:6912", "gene_name": "matrin 3", "omim_gene": [ "164015" ], "alias_name": null, "gene_symbol": "MATR3", "hgnc_symbol": "MATR3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:138609441-138667360", "ensembl_id": "ENSG00000015479" } }, "GRch38": { "90": { "location": "5:139293648-139331677", "ensembl_id": "ENSG00000015479" } } }, "hgnc_date_symbol_changed": "1999-07-21" }, "entity_type": "gene", "entity_name": "MATR3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "19344878", "34659085", "25154462", "31056746" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "distal myopathy with vocal cord weakness MONDO:0018951" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "PDLIM6", "KIAA0613", "ZASP" ], "biotype": "protein_coding", "hgnc_id": "HGNC:15710", "gene_name": "LIM domain binding 3", "omim_gene": [ "605906" ], "alias_name": [ "cypher", "oracle", "Z-band alternatively spliced PDZ motif protein" ], "gene_symbol": "LDB3", "hgnc_symbol": "LDB3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:88428206-88495825", "ensembl_id": "ENSG00000122367" } }, "GRch38": { "90": { "location": "10:86668449-86736068", "ensembl_id": "ENSG00000122367" } } }, "hgnc_date_symbol_changed": "2001-12-04" }, "entity_type": "gene", "entity_name": "LDB3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "24668811", "27546599", "25911362" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Literature" ], "phenotypes": [ "myofibrillar myopathy 4 MONDO:0012277" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:5033", "gene_name": "heterogeneous nuclear ribonucleoprotein A2/B1", "omim_gene": [ "600124" ], "alias_name": null, "gene_symbol": "HNRNPA2B1", "hgnc_symbol": "HNRNPA2B1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "7:26229547-26241149", "ensembl_id": "ENSG00000122566" } }, "GRch38": { "90": { "location": "7:26189927-26201529", "ensembl_id": "ENSG00000122566" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA2B1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "23455423", "30279180", "29358076", "26744327", "23635965", "35484142" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Royal Melbourne Hospital" ], "phenotypes": [ "oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "hnRNPA1", "hnRNP-A1", "ALS20" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5031", "gene_name": "heterogeneous nuclear ribonucleoprotein A1", "omim_gene": [ "164017" ], "alias_name": null, "gene_symbol": "HNRNPA1", "hgnc_symbol": "HNRNPA1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:54673977-54680872", "ensembl_id": "ENSG00000135486" } }, "GRch38": { "90": { "location": "12:54280193-54287088", "ensembl_id": "ENSG00000135486" } } }, "hgnc_date_symbol_changed": "2007-08-16" }, "entity_type": "gene", "entity_name": "HNRNPA1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "23455423", "27066560", "34291734", "34722876" ], "evidence": [ "Expert Review Green", "Literature", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myopathy, distal, 3, MIM# 610099", "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "GFAT", "GFA", "GFAT1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:4241", "gene_name": "glutamine--fructose-6-phosphate transaminase 1", "omim_gene": [ "138292" ], "alias_name": null, "gene_symbol": "GFPT1", "hgnc_symbol": "GFPT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "2:69546905-69614382", "ensembl_id": "ENSG00000198380" } }, "GRch38": { "90": { "location": "2:69319769-69387254", "ensembl_id": "ENSG00000198380" } } }, "hgnc_date_symbol_changed": "1993-12-14" }, "entity_type": "gene", "entity_name": "GFPT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "28712002", "29905857", "31449669" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myasthenia, congenital, 12, with tubular aggregates MIM#610542", "Limb-girdle congenital myasthenic syndrome" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "HLJ1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14886", "gene_name": "DnaJ heat shock protein family (Hsp40) member B4", "omim_gene": [ "611327" ], "alias_name": null, "gene_symbol": "DNAJB4", "hgnc_symbol": "DNAJB4", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:78444859-78483648", "ensembl_id": "ENSG00000162616" } }, "GRch38": { "90": { "location": "1:77979175-78017964", "ensembl_id": "ENSG00000162616" } } }, "hgnc_date_symbol_changed": "2001-03-09" }, "entity_type": "gene", "entity_name": "DNAJB4", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "36512060", "36264506" ], "evidence": [ "Expert Review Green", "Literature", "Literature", "Expert Review Green", "Literature" ], "phenotypes": [ "distal myopathy MONDO:0018949", "Myopathy, MONDO:0005336, DNAJB4-related" ], "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0699" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17208", "gene_name": "BICD cargo adaptor 2", "omim_gene": [ "609797" ], "alias_name": null, "gene_symbol": "BICD2", "hgnc_symbol": "BICD2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:95473645-95527094", "ensembl_id": "ENSG00000185963" } }, "GRch38": { "90": { "location": "9:92711363-92764812", "ensembl_id": "ENSG00000185963" } } }, "hgnc_date_symbol_changed": "2003-11-14" }, "entity_type": "gene", "entity_name": "BICD2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27784775", "28635954", "31561939", "29306765" ], "evidence": [ "Expert Review Green", "Expert list", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "distal myopathy MONDO:0018949" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:535", "gene_name": "annexin A11", "omim_gene": [ "602572" ], "alias_name": null, "gene_symbol": "ANXA11", "hgnc_symbol": "ANXA11", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "10:81910645-81965328", "ensembl_id": "ENSG00000122359" } }, "GRch38": { "90": { "location": "10:80150889-80205572", "ensembl_id": "ENSG00000122359" } } }, "hgnc_date_symbol_changed": "1994-05-17" }, "entity_type": "gene", "entity_name": "ANXA11", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "34048612" ], "evidence": [ "Expert Review Amber", "Literature", "Literature" ], "phenotypes": [ "Inclusion body myopathy and brain white matter abnormalities, MIM# 619733" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "FLJ38602" ], "biotype": "protein_coding", "hgnc_id": "HGNC:20093", "gene_name": "adenylosuccinate synthase like 1", "omim_gene": [ "612498" ], "alias_name": null, "gene_symbol": "ADSSL1", "hgnc_symbol": "ADSSL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:105190523-105213662", "ensembl_id": "ENSG00000185100" } }, "GRch38": { "90": { "location": "14:104724186-104747325", "ensembl_id": "ENSG00000185100" } } }, "hgnc_date_symbol_changed": "2002-12-17" }, "entity_type": "gene", "entity_name": "ADSSL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "26506222", "28268051", "34635388", "32646962" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Green", "Expert list", "Victorian Clinical Genetics Services" ], "phenotypes": [ "adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:164", "gene_name": "actinin alpha 2", "omim_gene": [ "102573" ], "alias_name": null, "gene_symbol": "ACTN2", "hgnc_symbol": "ACTN2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:236849754-236927931", "ensembl_id": "ENSG00000077522" } }, "GRch38": { "90": { "location": "1:236686454-236764631", "ensembl_id": "ENSG00000077522" } } }, "hgnc_date_symbol_changed": "1991-07-16" }, "entity_type": "gene", "entity_name": "ACTN2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "Other", "publications": [ "30900782", "34170073", "36116040", "34471957", "34386585" ], "evidence": [ "Expert Review Green", "Literature", "Expert Review Amber" ], "phenotypes": [ "Myopathy, distal, 6, adult onset MIM#618655", "ACTN2-related cardiac and skeletal myopathy, MONDO:0700349" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SNURPORTIN-1", "Snurportin1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:14245", "gene_name": "snurportin 1", "omim_gene": [ "607902" ], "alias_name": null, "gene_symbol": "SNUPN", "hgnc_symbol": "SNUPN", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "15:75890424-75918810", "ensembl_id": "ENSG00000169371" } }, "GRch38": { "90": { "location": "15:75598083-75626469", "ensembl_id": "ENSG00000169371" } } }, "hgnc_date_symbol_changed": "2006-07-14" }, "entity_type": "gene", "entity_name": "SNUPN", "confidence_level": "3", "penetrance": "unknown", "mode_of_pathogenicity": null, "publications": [ "PMID: 38413582", "PMID: 38366623" ], "evidence": [ "Expert Review Green", "Literature" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM# 620793" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "RIF1", "FLJ11269" ], "biotype": "protein_coding", "hgnc_id": "HGNC:30299", "gene_name": "ligand dependent nuclear receptor interacting factor 1", "omim_gene": [ "615354" ], "alias_name": [ "receptor interacting factor 1" ], "gene_symbol": "LRIF1", "hgnc_symbol": "LRIF1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:111489807-111506701", "ensembl_id": "ENSG00000121931" } }, "GRch38": { "90": { "location": "1:110947185-110964079", "ensembl_id": "ENSG00000121931" } } }, "hgnc_date_symbol_changed": "2011-04-15" }, "entity_type": "gene", "entity_name": "LRIF1", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "32467133" ], "evidence": [ "Expert Review Amber", "Literature" ], "phenotypes": [ "Facioscapulohumeral muscular dystrophy MONDO:0001347" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:2979", "gene_name": "DNA methyltransferase 3 beta", "omim_gene": [ "602900" ], "alias_name": null, "gene_symbol": "DNMT3B", "hgnc_symbol": "DNMT3B", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "20:31350191-31397162", "ensembl_id": "ENSG00000088305" } }, "GRch38": { "90": { "location": "20:32762385-32809356", "ensembl_id": "ENSG00000088305" } } }, "hgnc_date_symbol_changed": "1998-07-15" }, "entity_type": "gene", "entity_name": "DNMT3B", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "27153398", "33004076" ], "evidence": [ "Expert Review Amber", "Literature", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Facioscapulohumeral muscular dystrophy MONDO:0001347" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "KIAA0650", "FSHD2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:29090", "gene_name": "structural maintenance of chromosomes flexible hinge domain containing 1", "omim_gene": [ "614982" ], "alias_name": null, "gene_symbol": "SMCHD1", "hgnc_symbol": "SMCHD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "18:2655737-2805015", "ensembl_id": "ENSG00000101596" } }, "GRch38": { "90": { "location": "18:2655738-2805017", "ensembl_id": "ENSG00000101596" } } }, "hgnc_date_symbol_changed": "2005-03-22" }, "entity_type": "gene", "entity_name": "SMCHD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "20301616" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Facioscapulohumeral muscular dystrophy MONDO:0001347" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "gene_data": { "alias": [ "SLIM1", "KYO-T", "bA535K18.1", "FHL1B", "XMPMA", "FLH1A", "MGC111107" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3702", "gene_name": "four and a half LIM domains 1", "omim_gene": [ "300163" ], "alias_name": [ "Four-and-a-half LIM domains 1", "LIM protein SLIMMER" ], "gene_symbol": "FHL1", "hgnc_symbol": "FHL1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:135229559-135293518", "ensembl_id": "ENSG00000022267" } }, "GRch38": { "90": { "location": "X:136146702-136211359", "ensembl_id": "ENSG00000022267" } } }, "hgnc_date_symbol_changed": "1997-08-28" }, "entity_type": "gene", "entity_name": "FHL1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "19716112", "20186852", "20301609", "18179901", "25274776", "34366191", "18274675", "19181672" ], "evidence": [ "Expert Review Green", "Expert list", "Expert Review Green", "Expert list", "Royal Melbourne Hospital" ], "phenotypes": [ "Reducing body myopathy MONDO:0019948", "X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "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", "Royal Melbourne Hospital" ], "phenotypes": [ "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" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "KIAA1851" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22932", "gene_name": "GDP-mannose pyrophosphorylase B", "omim_gene": [ "615320" ], "alias_name": [ "mannose-1-phosphate guanyltransferase beta" ], "gene_symbol": "GMPPB", "hgnc_symbol": "GMPPB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:49754277-49761384", "ensembl_id": "ENSG00000173540" } }, "GRch38": { "90": { "location": "3:49716844-49723951", "ensembl_id": "ENSG00000173540" } } }, "hgnc_date_symbol_changed": "2005-01-10" }, "entity_type": "gene", "entity_name": "GMPPB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:6482", "gene_name": "laminin subunit alpha 2", "omim_gene": [ "156225" ], "alias_name": [ "merosin", "congenital muscular dystrophy" ], "gene_symbol": "LAMA2", "hgnc_symbol": "LAMA2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:129204342-129837714", "ensembl_id": "ENSG00000196569" } }, "GRch38": { "90": { "location": "6:128883141-129516569", "ensembl_id": "ENSG00000196569" } } }, "hgnc_date_symbol_changed": "1992-05-06" }, "entity_type": "gene", "entity_name": "LAMA2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30055037" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855", "Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [], "biotype": "protein_coding", "hgnc_id": "HGNC:7448", "gene_name": "myotubularin 1", "omim_gene": [ "300415" ], "alias_name": null, "gene_symbol": "MTM1", "hgnc_symbol": "MTM1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "X:149737069-149841795", "ensembl_id": "ENSG00000171100" } }, "GRch38": { "90": { "location": "X:150568619-150673322", "ensembl_id": "ENSG00000171100" } } }, "hgnc_date_symbol_changed": "2001-06-22" }, "entity_type": "gene", "entity_name": "MTM1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Myotubular myopathy, X-linked, 310400" ], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, biallelic mutations in females", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "PCN", "PLTN" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9069", "gene_name": "plectin", "omim_gene": [ "601282" ], "alias_name": null, "gene_symbol": "PLEC", "hgnc_symbol": "PLEC", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:144989321-145050902", "ensembl_id": "ENSG00000178209" } }, "GRch38": { "90": { "location": "8:143915147-143976734", "ensembl_id": "ENSG00000178209" } } }, "hgnc_date_symbol_changed": "2010-02-04" }, "entity_type": "gene", "entity_name": "PLEC", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "22144912" ], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy with epidermolysis bullosa simplex, 226670" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MDS010", "MGC32995", "9630046K23Rik", "MDSRP", "hCLP46", "KDELCL1", "Rumi" ], "biotype": "protein_coding", "hgnc_id": "HGNC:22954", "gene_name": "protein O-glucosyltransferase 1", "omim_gene": [ "615618" ], "alias_name": [ "KDELC family like 1" ], "gene_symbol": "POGLUT1", "hgnc_symbol": "POGLUT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:119187785-119213555", "ensembl_id": "ENSG00000163389" } }, "GRch38": { "90": { "location": "3:119468938-119494708", "ensembl_id": "ENSG00000163389" } } }, "hgnc_date_symbol_changed": "2010-09-29" }, "entity_type": "gene", "entity_name": "POGLUT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27807076", "29034878", "31897643" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM#617232)" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ20277", "MGAT1.2", "LGMD2O" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19139", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)", "omim_gene": [ "606822" ], "alias_name": [ "protein O-mannose beta-1,2-N-acetylglucosaminyltransferase" ], "gene_symbol": "POMGNT1", "hgnc_symbol": "POMGNT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:46654354-46685977", "ensembl_id": "ENSG00000085998" } }, "GRch38": { "90": { "location": "1:46188682-46220305", "ensembl_id": "ENSG00000085998" } } }, "hgnc_date_symbol_changed": "2005-06-02" }, "entity_type": "gene", "entity_name": "POMGNT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "27391550", "26908613", "30961548", "30937090" ], "evidence": [ "Expert Review Green", "Expert Review", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ14566", "AGO61" ], "biotype": "protein_coding", "hgnc_id": "HGNC:25902", "gene_name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)", "omim_gene": [ "614828" ], "alias_name": null, "gene_symbol": "POMGNT2", "hgnc_symbol": "POMGNT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "3:43120724-43147568", "ensembl_id": "ENSG00000144647" } }, "GRch38": { "90": { "location": "3:43079232-43106076", "ensembl_id": "ENSG00000144647" } } }, "hgnc_date_symbol_changed": "2013-08-22" }, "entity_type": "gene", "entity_name": "POMGNT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "FLJ23356", "SgK196" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26267", "gene_name": "protein-O-mannose kinase", "omim_gene": [ "615247" ], "alias_name": null, "gene_symbol": "POMK", "hgnc_symbol": "POMK", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "8:42948658-42978577", "ensembl_id": "ENSG00000185900" } }, "GRch38": { "90": { "location": "8:43093506-43123434", "ensembl_id": "ENSG00000185900" } } }, "hgnc_date_symbol_changed": "2013-08-22" }, "entity_type": "gene", "entity_name": "POMK", "confidence_level": "2", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24556084", "24925318", "29910097" ], "evidence": [ "Expert Review Green", "Expert Review Amber", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094", "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGMD2K" ], "biotype": "protein_coding", "hgnc_id": "HGNC:9202", "gene_name": "protein O-mannosyltransferase 1", "omim_gene": [ "607423" ], "alias_name": [ "dolichyl-phosphate-mannose-protein mannosyltransferase" ], "gene_symbol": "POMT1", "hgnc_symbol": "POMT1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "9:134378289-134399193", "ensembl_id": "ENSG00000130714" } }, "GRch38": { "90": { "location": "9:131502902-131523806", "ensembl_id": "ENSG00000130714" } } }, "hgnc_date_symbol_changed": "1999-06-25" }, "entity_type": "gene", "entity_name": "POMT1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "LGMD2N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:19743", "gene_name": "protein O-mannosyltransferase 2", "omim_gene": [ "607439" ], "alias_name": [ "Dolichyl-phosphate-mannose--protein mannosyltransferase" ], "gene_symbol": "POMT2", "hgnc_symbol": "POMT2", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "14:77741299-77787227", "ensembl_id": "ENSG00000009830" } }, "GRch38": { "90": { "location": "14:77274956-77320884", "ensembl_id": "ENSG00000009830" } } }, "hgnc_date_symbol_changed": "2003-01-17" }, "entity_type": "gene", "entity_name": "POMT2", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DKFZp762G094", "FLJ22028" ], "biotype": "protein_coding", "hgnc_id": "HGNC:26162", "gene_name": "pyridine nucleotide-disulphide oxidoreductase domain 1", "omim_gene": [ "617220" ], "alias_name": null, "gene_symbol": "PYROXD1", "hgnc_symbol": "PYROXD1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "12:21590549-21623300", "ensembl_id": "ENSG00000121350" } }, "GRch38": { "90": { "location": "12:21437615-21471252", "ensembl_id": "ENSG00000121350" } } }, "hgnc_date_symbol_changed": "2007-08-02" }, "entity_type": "gene", "entity_name": "PYROXD1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30345904", "30515627", "27745833" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Myopathy, myofibrillar, 8, 617258", "adult-onset limb girdle muscular dystrophy" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "MGC34275", "MGC125904", "MGC125905" ], "biotype": "protein_coding", "hgnc_id": "HGNC:3007", "gene_name": "dolichyl-phosphate mannosyltransferase subunit 3", "omim_gene": [ "605951" ], "alias_name": [ "DPM synthase complex subunit" ], "gene_symbol": "DPM3", "hgnc_symbol": "DPM3", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "1:155112367-155113071", "ensembl_id": "ENSG00000179085" } }, "GRch38": { "90": { "location": "1:155139891-155140595", "ensembl_id": "ENSG00000179085" } } }, "hgnc_date_symbol_changed": "2000-06-29" }, "entity_type": "gene", "entity_name": "DPM3", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": null, "publications": [ "19576565", "28803818", "31266720" ], "evidence": [ "Expert Review Green", "Expert Review", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15\tMIM#612937" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": [] }, { "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": [ "23390185", "30060766", "28688748", "26404900" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [ "new gene name" ], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCARMD1", "LGMD2D", "adhalin", "DMDA2", "A2" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10805", "gene_name": "sarcoglycan alpha", "omim_gene": [ "600119" ], "alias_name": [ "50kD DAG", "adhalin", "limb girdle muscular dystrophy 2D" ], "gene_symbol": "SGCA", "hgnc_symbol": "SGCA", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:48241575-48253292", "ensembl_id": "ENSG00000108823" } }, "GRch38": { "90": { "location": "17:50164214-50175931", "ensembl_id": "ENSG00000108823" } } }, "hgnc_date_symbol_changed": "1994-12-14" }, "entity_type": "gene", "entity_name": "SGCA", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30007747", "9192266", "34404573" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Limb-girdle muscular dystrophy", "Muscular dystrophy, limb-girdle, type 2D, 608099", "autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SGC", "A3b" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10806", "gene_name": "sarcoglycan beta", "omim_gene": [ "600900" ], "alias_name": null, "gene_symbol": "SGCB", "hgnc_symbol": "SGCB", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:52886872-52904648", "ensembl_id": "ENSG00000163069" } }, "GRch38": { "90": { "location": "4:52020706-52038482", "ensembl_id": "ENSG00000163069" } } }, "hgnc_date_symbol_changed": "1995-01-24" }, "entity_type": "gene", "entity_name": "SGCB", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review", "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2E, 604286" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "DAGD", "LGMD2F", "CMD1L" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10807", "gene_name": "sarcoglycan delta", "omim_gene": [ "601411" ], "alias_name": null, "gene_symbol": "SGCD", "hgnc_symbol": "SGCD", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "5:155297354-156194799", "ensembl_id": "ENSG00000170624" } }, "GRch38": { "90": { "location": "5:155870344-156767788", "ensembl_id": "ENSG00000170624" } } }, "hgnc_date_symbol_changed": "1997-07-22" }, "entity_type": "gene", "entity_name": "SGCD", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review Green", "Expert Review", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2F, 601287" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SCARMD2", "DAGA4", "SCG3", "DMDA", "TYPE", "A4", "MGC130048" ], "biotype": "protein_coding", "hgnc_id": "HGNC:10809", "gene_name": "sarcoglycan gamma", "omim_gene": [ "608896" ], "alias_name": [ "Maghrebian myopathy (autosomal recessive)", "35kD dystrophin-associated glycoprotein", "limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)", "gamma sarcoglycan" ], "gene_symbol": "SGCG", "hgnc_symbol": "SGCG", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "13:23755091-23899304", "ensembl_id": "ENSG00000102683" } }, "GRch38": { "90": { "location": "13:23180952-23325165", "ensembl_id": "ENSG00000102683" } } }, "hgnc_date_symbol_changed": "1997-07-22" }, "entity_type": "gene", "entity_name": "SGCG", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "30838351", "25802879" ], "evidence": [ "Expert Review Green", "Expert Review", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2C, 253700" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "SYNE-1B", "KIAA0796", "8B", "Nesprin-1", "enaptin", "MYNE1", "CPG2", "dJ45H2.2", "SCAR8", "ARCA1", "Nesp1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:17089", "gene_name": "spectrin repeat containing nuclear envelope protein 1", "omim_gene": [ "608441" ], "alias_name": [ "myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1" ], "gene_symbol": "SYNE1", "hgnc_symbol": "SYNE1", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "6:152442819-152958936", "ensembl_id": "ENSG00000131018" } }, "GRch38": { "90": { "location": "6:152121684-152637801", "ensembl_id": "ENSG00000131018" } } }, "hgnc_date_symbol_changed": "2003-02-19" }, "entity_type": "gene", "entity_name": "SYNE1", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [], "evidence": [ "Expert Review", "Expert Review Green", "Expert Review Green", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "T-cap", "TELE", "telethonin", "CMD1N" ], "biotype": "protein_coding", "hgnc_id": "HGNC:11610", "gene_name": "titin-cap", "omim_gene": [ "604488" ], "alias_name": [ "19 kDa sarcomeric protein", "teneurin C-terminal associated peptide" ], "gene_symbol": "TCAP", "hgnc_symbol": "TCAP", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "17:37820440-37822808", "ensembl_id": "ENSG00000173991" } }, "GRch38": { "90": { "location": "17:39664187-39666555", "ensembl_id": "ENSG00000173991" } } }, "hgnc_date_symbol_changed": "2000-02-16" }, "entity_type": "gene", "entity_name": "TCAP", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "25055047", "22029105", "18948002" ], "evidence": [ "Expert Review Green", "Expert Review Green", "Expert Review Green", "Expert Review", "Royal Melbourne Hospital", "Victorian Clinical Genetics Services" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 2G, 601954" ], "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null }, { "gene_data": { "alias": [ "JKTBP", "laAUF1" ], "biotype": "protein_coding", "hgnc_id": "HGNC:5037", "gene_name": "heterogeneous nuclear ribonucleoprotein D like", "omim_gene": [ "607137" ], "alias_name": null, "gene_symbol": "HNRNPDL", "hgnc_symbol": "HNRNPDL", "hgnc_release": "2017-11-03", "ensembl_genes": { "GRch37": { "82": { "location": "4:83343717-83351294", "ensembl_id": "ENSG00000152795" } }, "GRch38": { "90": { "location": "4:82422564-82430408", "ensembl_id": "ENSG00000152795" } } }, "hgnc_date_symbol_changed": "2013-06-12" }, "entity_type": "gene", "entity_name": "HNRNPDL", "confidence_level": "3", "penetrance": null, "mode_of_pathogenicity": "", "publications": [ "24647604", "31267206", "31995753", "32407983", "32904822", "32367994" ], "evidence": [ "Expert Review Green", "Royal Melbourne Hospital" ], "phenotypes": [ "Muscular dystrophy, limb-girdle, type 1G 609115" ], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", "tags": [], "panel": { "id": 3071, "hash_id": null, "name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "", "description": "This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.", "status": "public", "version": "1.65", "version_created": "2026-01-21T10:59:30.179226+11:00", "relevant_disorders": [ "Limb-girdle muscular dystrophy", "MONDO:0016971; Proximal muscle weakness", "HP:0003701; Distal myopathy MONDO:0018949" ], "stats": { "number_of_genes": 102, "number_of_strs": 10, "number_of_regions": 0 }, "types": [ { "name": "Royal Melbourne Hospital", "slug": "royal-melbourne-hospital", "description": "Royal Melbourne Hospital" }, { "name": "Rare Disease", "slug": "rare-disease", "description": "Rare disease panels" }, { "name": "Victorian Clinical Genetics Services", "slug": "victorian-clinical-genetics-services", "description": "Panel used by VCGS." } ], "child_panel_ids": [] }, "transcript": null } ] }