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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33442","dJ955L16.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21478","gene_name":"regulatory factor X6","omim_gene":["612659"],"alias_name":["DNA-binding protein RFX6"],"gene_symbol":"RFX6","hgnc_symbol":"RFX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:117198375-117253326","ensembl_id":"ENSG00000185002"}},"GRch38":{"90":{"location":"6:116877212-116932163","ensembl_id":"ENSG00000185002"}}},"hgnc_date_symbol_changed":"2008-08-04"},"entity_type":"gene","entity_name":"RFX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20148032","25048417","27185633","29026101","31001871"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Mitchell-Riley syndrome, MIM#\t615710"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLS","RFX-B","ANKRA1","F14150_1","MGC138628"],"biotype":"protein_coding","hgnc_id":"HGNC:9987","gene_name":"regulatory factor X associated ankyrin containing protein","omim_gene":["603200"],"alias_name":["ankyrin repeat-containing regulatory factor X-associated protein","regulatory factor X subunit B","RFX-Bdelta4","DNA-binding protein RFXANK"],"gene_symbol":"RFXANK","hgnc_symbol":"RFXANK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19303008-19312678","ensembl_id":"ENSG00000064490"}},"GRch38":{"90":{"location":"19:19192229-19201869","ensembl_id":"ENSG00000064490"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"RFXANK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12618906"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MHC class II deficiency, complementation group B MIM# 209920","Bare Lymphocyte Syndrome, type II, complementation group B","Low CD4+ T cells","reduced MHC II expression on lymphocytes","Normal-low Ig levels","Failure to thrive","respiratory/gastrointestinal infections","liver/biliary tract disease","diarrhoea","Severe autoimmune cytopaenia","agammaglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9988","gene_name":"regulatory factor X associated protein","omim_gene":["601861"],"alias_name":null,"gene_symbol":"RFXAP","hgnc_symbol":"RFXAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37393361-37403241","ensembl_id":"ENSG00000133111"}},"GRch38":{"90":{"location":"13:36819224-36829104","ensembl_id":"ENSG00000133111"}}},"hgnc_date_symbol_changed":"1997-11-05"},"entity_type":"gene","entity_name":"RFXAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9118943","32875002","11258423"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group D MIM# 209920","Low CD4+ T cells","reduced MHC II expression on lymphocytes","Normal-low Ig levels","Failure to thrive","respiratory/gastrointestinal infections","liver/biliary tract disease","diarrhoea","Severe autoimmune cytopaenia","agammaglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0236","pHZ-49"],"biotype":"protein_coding","hgnc_id":"HGNC:12927","gene_name":"zinc finger protein 142","omim_gene":["604083"],"alias_name":null,"gene_symbol":"ZNF142","hgnc_symbol":"ZNF142","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219502639-219524378","ensembl_id":"ENSG00000115568"}},"GRch38":{"90":{"location":"2:218637916-218659655","ensembl_id":"ENSG00000115568"}}},"hgnc_date_symbol_changed":"1993-02-11"},"entity_type":"gene","entity_name":"ZNF142","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036918"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM#618425"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9839","gene_name":"RAS like proto-oncogene A","omim_gene":["179550"],"alias_name":["RAS-like protein A","Ras-related protein Ral-A","Ras family small GTP binding protein RALA","ras related GTP binding protein A"],"gene_symbol":"RALA","hgnc_symbol":"RALA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39663082-39747723","ensembl_id":"ENSG00000006451"}},"GRch38":{"90":{"location":"7:39623483-39708124","ensembl_id":"ENSG00000006451"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RALA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30500825"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311","Intellectual disability","Seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0465","ACF7","ABP620","KIAA1251","MACF","FLJ45612","FLJ46776"],"biotype":"protein_coding","hgnc_id":"HGNC:13664","gene_name":"microtubule-actin crosslinking factor 1","omim_gene":["608271"],"alias_name":["actin cross-linking factor","620 kDa actin binding protein","macrophin 1","trabeculin-alpha","actin cross-linking family protein 7"],"gene_symbol":"MACF1","hgnc_symbol":"MACF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:39546988-39952849","ensembl_id":"ENSG00000127603"}},"GRch38":{"90":{"location":"1:39081316-39487177","ensembl_id":"ENSG00000127603"}}},"hgnc_date_symbol_changed":"2002-01-09"},"entity_type":"gene","entity_name":"MACF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30471716","37721175","30842214"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lissencephaly 9 with complex brainstem malformation, MIM#\t618325","Congenital myasthenic syndrome, MONDO:0018940, MACF1-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3672","gene_name":"fibroblast growth factor 16","omim_gene":["300827"],"alias_name":null,"gene_symbol":"FGF16","hgnc_symbol":"FGF16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:76709648-76712769","ensembl_id":"ENSG00000196468"}},"GRch38":{"90":{"location":"X:77447405-77457278","ensembl_id":"ENSG00000196468"}}},"hgnc_date_symbol_changed":"1998-12-22"},"entity_type":"gene","entity_name":"FGF16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Metacarpal 4-5 fusion, MIM#\t309630"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HsT19268"],"biotype":"protein_coding","hgnc_id":"HGNC:7437","gene_name":"methenyltetrahydrofolate synthetase","omim_gene":["604197"],"alias_name":["5,10-methenyltetrahydrofolate synthetase","5-formyltetrahydrofolate cyclo-ligase"],"gene_symbol":"MTHFS","hgnc_symbol":"MTHFS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80125927-80189721","ensembl_id":"ENSG00000136371"}},"GRch38":{"90":{"location":"15:79833585-79897379","ensembl_id":"ENSG00000136371"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"MTHFS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30031689","31844630","22303332"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["D16S444E","BBC1","L13"],"biotype":"protein_coding","hgnc_id":"HGNC:10303","gene_name":"ribosomal protein L13","omim_gene":["113703"],"alias_name":null,"gene_symbol":"RPL13","hgnc_symbol":"RPL13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89627065-89630950","ensembl_id":"ENSG00000167526"}},"GRch38":{"90":{"location":"16:89560657-89566828","ensembl_id":"ENSG00000167526"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31630789"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spondyloepimetaphyseal Dysplasia with Severe Short Stature"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29154","gene_name":"interactor of little elongation complex ELL subunit 1","omim_gene":null,"alias_name":null,"gene_symbol":"ICE1","hgnc_symbol":"ICE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:5420777-5490347","ensembl_id":"ENSG00000164151"}},"GRch38":{"90":{"location":"5:5420664-5490234","ensembl_id":"ENSG00000164151"}}},"hgnc_date_symbol_changed":"2014-06-03"},"entity_type":"gene","entity_name":"ICE1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31130284"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual disability (MONDO:0001071), ICE1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EIF-2A"],"biotype":"protein_coding","hgnc_id":"HGNC:3254","gene_name":"eukaryotic translation initiation factor 2A","omim_gene":["609234"],"alias_name":null,"gene_symbol":"EIF2A","hgnc_symbol":"EIF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:150264465-150302029","ensembl_id":"ENSG00000144895"}},"GRch38":{"90":{"location":"3:150546678-150584242","ensembl_id":"ENSG00000144895"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"EIF2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31130284"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual disability, epilepsy","MONDO:0700092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRS23","SBDN","PTD009"],"biotype":"protein_coding","hgnc_id":"HGNC:19943","gene_name":"trafficking protein particle complex 4","omim_gene":["610971"],"alias_name":null,"gene_symbol":"TRAPPC4","hgnc_symbol":"TRAPPC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118889142-118896164","ensembl_id":"ENSG00000196655"}},"GRch38":{"90":{"location":"11:119018432-119025454","ensembl_id":"ENSG00000196655"}}},"hgnc_date_symbol_changed":"2003-08-29"},"entity_type":"gene","entity_name":"TRAPPC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31794024"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, MIM# 618741"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20311","MTB","CAP-G2","hCAP-G2"],"biotype":"protein_coding","hgnc_id":"HGNC:21904","gene_name":"non-SMC condensin II complex subunit G2","omim_gene":["608532"],"alias_name":null,"gene_symbol":"NCAPG2","hgnc_symbol":"NCAPG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:158424003-158497520","ensembl_id":"ENSG00000146918"}},"GRch38":{"90":{"location":"7:158631311-158704829","ensembl_id":"ENSG00000146918"}}},"hgnc_date_symbol_changed":"2006-09-04"},"entity_type":"gene","entity_name":"NCAPG2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30609410"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Khan-Khan-Katsanis syndrome, MIM#\t618460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BSN2","FLJ20043"],"biotype":"protein_coding","hgnc_id":"HGNC:30988","gene_name":"basonuclin 2","omim_gene":["608669"],"alias_name":null,"gene_symbol":"BNC2","hgnc_symbol":"BNC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:16409501-16870841","ensembl_id":"ENSG00000173068"}},"GRch38":{"90":{"location":"9:16409503-16870843","ensembl_id":"ENSG00000173068"}}},"hgnc_date_symbol_changed":"2004-04-29"},"entity_type":"gene","entity_name":"BNC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31656805","31051115"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lower urinary tract obstruction, congenital","OMIM #618612"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC22014","hCG_40738"],"biotype":"protein_coding","hgnc_id":"HGNC:28313","gene_name":"tet methylcytosine dioxygenase 3","omim_gene":["613555"],"alias_name":null,"gene_symbol":"TET3","hgnc_symbol":"TET3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74229840-74335303","ensembl_id":"ENSG00000187605"}},"GRch38":{"90":{"location":"2:73986404-74108176","ensembl_id":"ENSG00000187605"}}},"hgnc_date_symbol_changed":"2008-03-12"},"entity_type":"gene","entity_name":"TET3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31928709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Beck-Fahrner syndrome MIM#618798"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22559","bA541N10.2"],"biotype":"protein_coding","hgnc_id":"HGNC:26200","gene_name":"STN1, CST complex subunit","omim_gene":["613128"],"alias_name":null,"gene_symbol":"STN1","hgnc_symbol":"STN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105642300-105677963","ensembl_id":"ENSG00000107960"}},"GRch38":{"90":{"location":"10:103882542-103918205","ensembl_id":"ENSG00000107960"}}},"hgnc_date_symbol_changed":"2016-10-04"},"entity_type":"gene","entity_name":"STN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27432940","32627942"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MLTKalpha","MLTKbeta","ZAK","MLTK","MLK7","MRK"],"biotype":"protein_coding","hgnc_id":"HGNC:17797","gene_name":"mitogen-activated protein kinase kinase kinase 20","omim_gene":["609479"],"alias_name":["ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)","mixed lineage kinase 7"],"gene_symbol":"MAP3K20","hgnc_symbol":"MAP3K20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:173940163-174132738","ensembl_id":"ENSG00000091436"}},"GRch38":{"90":{"location":"2:173075435-173268010","ensembl_id":"ENSG00000091436"}}},"hgnc_date_symbol_changed":"2016-10-19"},"entity_type":"gene","entity_name":"MAP3K20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27816943","26755636","38451290"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Syndromic disease, MONDO:0002254, MAP3K20-related","Centronuclear myopathy 6 with fiber-type disproportion MIM#617760","Split-foot malformation with mesoaxial polydactyly MIM#616890"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CED12","ELMO-2","CED-12","KIAA1834","FLJ11656"],"biotype":"protein_coding","hgnc_id":"HGNC:17233","gene_name":"engulfment and cell motility 2","omim_gene":["606421"],"alias_name":null,"gene_symbol":"ELMO2","hgnc_symbol":"ELMO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44994688-45061704","ensembl_id":"ENSG00000062598"}},"GRch38":{"90":{"location":"20:46366049-46432985","ensembl_id":"ENSG00000062598"}}},"hgnc_date_symbol_changed":"2001-12-13"},"entity_type":"gene","entity_name":"ELMO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27476657"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Vascular malformation, primary intraosseous, MIM#606893"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4756","version_created":"2026-04-21T17:26:37.026127+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1001"],"biotype":"protein_coding","hgnc_id":"HGNC:24102","gene_name":"arylsulfatase G","omim_gene":["610008"],"alias_name":null,"gene_symbol":"ARSG","hgnc_symbol":"ARSG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66255323-66418872","ensembl_id":"ENSG00000141337"}},"GRch38":{"90":{"location":"17:68259182-68422731","ensembl_id":"ENSG00000141337"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"ARSG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29300381","20679209","25452429","26975023","32455177","33300174"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Usher syndrome, type IV, MIM# 618144"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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