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All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FVSY9334","PRO34005","FLJ13710","ADAMTSL6"],"biotype":"protein_coding","hgnc_id":"HGNC:25835","gene_name":"thrombospondin type 1 domain containing 4","omim_gene":["614476"],"alias_name":null,"gene_symbol":"THSD4","hgnc_symbol":"THSD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:71389291-72075722","ensembl_id":"ENSG00000187720"}},"GRch38":{"90":{"location":"15:71096952-71783383","ensembl_id":"ENSG00000187720"}}},"hgnc_date_symbol_changed":"2006-02-08"},"entity_type":"gene","entity_name":"THSD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32855533"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Aortic aneurysm, familial thoracic 12, MIM# 619825"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7506","gene_name":"metaxin 2","omim_gene":["608555"],"alias_name":null,"gene_symbol":"MTX2","hgnc_symbol":"MTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:177134123-177202753","ensembl_id":"ENSG00000128654"}},"GRch38":{"90":{"location":"2:176269395-176338025","ensembl_id":"ENSG00000128654"}}},"hgnc_date_symbol_changed":"1999-07-14"},"entity_type":"gene","entity_name":"MTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32917887"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mandibuloacral dysplasia progeroid syndrome, MIM# 619127","Mandibuloacral dysplasia","lipodystrophy","arterial calcification"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SNC19","HAI","MT-SP1","TMPRSS14"],"biotype":"protein_coding","hgnc_id":"HGNC:11344","gene_name":"suppression of tumorigenicity 14","omim_gene":["606797"],"alias_name":["epithin","matriptase"],"gene_symbol":"ST14","hgnc_symbol":"ST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:130029457-130080271","ensembl_id":"ENSG00000149418"}},"GRch38":{"90":{"location":"11:130159562-130210376","ensembl_id":"ENSG00000149418"}}},"hgnc_date_symbol_changed":"1998-05-05"},"entity_type":"gene","entity_name":"ST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18843291","29611532","17273967"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YF13H12","HSCO"],"biotype":"protein_coding","hgnc_id":"HGNC:23287","gene_name":"ETHE1, persulfide dioxygenase","omim_gene":["608451"],"alias_name":null,"gene_symbol":"ETHE1","hgnc_symbol":"ETHE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44010871-44031396","ensembl_id":"ENSG00000105755"}},"GRch38":{"90":{"location":"19:43506719-43527244","ensembl_id":"ENSG00000105755"}}},"hgnc_date_symbol_changed":"2003-12-15"},"entity_type":"gene","entity_name":"ETHE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14732903","28933811"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ethylmalonic encephalopathy, MIM#602473"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hnRNPH'","FTP3","HNRPH'"],"biotype":"protein_coding","hgnc_id":"HGNC:5042","gene_name":"heterogeneous nuclear ribonucleoprotein H2","omim_gene":["300610"],"alias_name":null,"gene_symbol":"HNRNPH2","hgnc_symbol":"HNRNPH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100663283-100669121","ensembl_id":"ENSG00000126945"}},"GRch38":{"90":{"location":"X:101408295-101414133","ensembl_id":"ENSG00000126945"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34907471","33728377","31670473","31236915","30887513"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986"],"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":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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["16960809","18049449"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa MONDO:0006541, KRT14-related","Epidermolysis bullosa simplex, recessive 1, 601001","Dermatopathia pigmentosa reticularis, 125595","Epidermolysis bullosa simplex, Dowling-Meara type, 131760","Epidermolysis bullosa simplex, Koebner type, 131900","Epidermolysis bullosa simplex, Weber-Cockayne type, 131800","Naegeli-Franceschetti-Jadassohn syndrome, 161000"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p40phox","SH3PXD4"],"biotype":"protein_coding","hgnc_id":"HGNC:7662","gene_name":"neutrophil cytosolic factor 4","omim_gene":["601488"],"alias_name":["neutrophil NADPH oxidase factor 4"],"gene_symbol":"NCF4","hgnc_symbol":"NCF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37257030-37274057","ensembl_id":"ENSG00000100365"}},"GRch38":{"90":{"location":"22:36860988-36878015","ensembl_id":"ENSG00000100365"}}},"hgnc_date_symbol_changed":"1996-06-19"},"entity_type":"gene","entity_name":"NCF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19692703","16880254","29969437"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7701349","8855805","17164305","15525660","19061984"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Failure of tooth eruption, primary MIM#125350","Eiken syndrome MIM#600002","Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400","Chondrodysplasia, Blomstrand type MIM#215045"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["18285821"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286","autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152"],"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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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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MPDS","CDGIE"],"biotype":"protein_coding","hgnc_id":"HGNC:3005","gene_name":"dolichyl-phosphate mannosyltransferase subunit 1, catalytic","omim_gene":["603503"],"alias_name":["DPM synthase complex, catalytic subunit"],"gene_symbol":"DPM1","hgnc_symbol":"DPM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49551404-49575092","ensembl_id":"ENSG00000000419"}},"GRch38":{"90":{"location":"20:50934867-50958555","ensembl_id":"ENSG00000000419"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAPTB"],"biotype":"protein_coding","hgnc_id":"HGNC:567","gene_name":"adaptor related protein complex 3 beta 2 subunit","omim_gene":["602166"],"alias_name":null,"gene_symbol":"AP3B2","hgnc_symbol":"AP3B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83328033-83378666","ensembl_id":"ENSG00000103723"}},"GRch38":{"90":{"location":"15:82659281-82709914","ensembl_id":"ENSG00000103723"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27889060"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Early-onset epileptic encephalopathy with optic atrophy, MIM#617276"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13063"],"biotype":"protein_coding","hgnc_id":"HGNC:25781","gene_name":"armadillo repeat containing 5","omim_gene":["615549"],"alias_name":null,"gene_symbol":"ARMC5","hgnc_symbol":"ARMC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31469401-31478487","ensembl_id":"ENSG00000140691"}},"GRch38":{"90":{"location":"16:31458080-31467166","ensembl_id":"ENSG00000140691"}}},"hgnc_date_symbol_changed":"2004-06-29"},"entity_type":"gene","entity_name":"ARMC5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25822102"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Primary aldosteronism, MONDO:0001422"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":190,"hash_id":null,"name":"Hypertension and Aldosterone disorders","disease_group":"Renal and urinary tract disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).","status":"public","version":"1.18","version_created":"2026-01-08T17:00:09.030229+11:00","relevant_disorders":["Hypertension","HP:0000822; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HDS","FLJ13102","DS","RP59"],"biotype":"protein_coding","hgnc_id":"HGNC:20603","gene_name":"dehydrodolichyl diphosphate synthase subunit","omim_gene":["608172"],"alias_name":null,"gene_symbol":"DHDDS","hgnc_symbol":"DHDDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:26758773-26797785","ensembl_id":"ENSG00000117682"}},"GRch38":{"90":{"location":"1:26432282-26471294","ensembl_id":"ENSG00000117682"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"DHDDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29100083","27343064"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental delay and seizures with or without movement abnormalities, MIM#617836","Congenital disorder of glycosylation, MIM#613861"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:27960","gene_name":"solute carrier family 6 member 19","omim_gene":["608893"],"alias_name":["Hartnup disease"],"gene_symbol":"SLC6A19","hgnc_symbol":"SLC6A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1201710-1225232","ensembl_id":"ENSG00000174358"}},"GRch38":{"90":{"location":"5:1201595-1225117","ensembl_id":"ENSG00000174358"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hartnup disorder, MIM# 234500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hmunc13","Unc13h2"],"biotype":"protein_coding","hgnc_id":"HGNC:12566","gene_name":"unc-13 homolog B","omim_gene":["605836"],"alias_name":null,"gene_symbol":"UNC13B","hgnc_symbol":"UNC13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35161999-35405335","ensembl_id":"ENSG00000198722"}},"GRch38":{"90":{"location":"9:35161992-35405338","ensembl_id":"ENSG00000198722"}}},"hgnc_date_symbol_changed":"2003-10-17"},"entity_type":"gene","entity_name":"UNC13B","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33876820"],"evidence":["Expert Review Red","Literature","Expert list"],"phenotypes":["Epilepsy"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-39","CDA016","GRIM-19","GRIM19","B16.6"],"biotype":"protein_coding","hgnc_id":"HGNC:17194","gene_name":"NADH:ubiquinone oxidoreductase subunit A13","omim_gene":["609435"],"alias_name":["complex I B16.6 subunit"],"gene_symbol":"NDUFA13","hgnc_symbol":"NDUFA13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19626545-19644285","ensembl_id":"ENSG00000186010"}},"GRch38":{"90":{"location":"19:19515736-19529054","ensembl_id":"ENSG00000186010"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"NDUFA13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25901006","32722639"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16088","gene_name":"sideroflexin 4","omim_gene":["615564"],"alias_name":null,"gene_symbol":"SFXN4","hgnc_symbol":"SFXN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:120900279-120925179","ensembl_id":"ENSG00000183605"}},"GRch38":{"90":{"location":"10:119140767-119165667","ensembl_id":"ENSG00000183605"}}},"hgnc_date_symbol_changed":"2003-04-25"},"entity_type":"gene","entity_name":"SFXN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24119684","31059822"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 18, MIM#615578"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AP19","SIGMA1A","WUGSC:H_DJ0747G18.2"],"biotype":"protein_coding","hgnc_id":"HGNC:559","gene_name":"adaptor related protein complex 1 sigma 1 subunit","omim_gene":["603531"],"alias_name":["clathrin-associated/assembly/adaptor protein, small 1 (19kD)","clathrin coat assembly protein AP19","sigma1A subunit of AP-1 clathrin adaptor complex","AP-1 complex subunit sigma-1A","sigma1A-adaptin","golgi adaptor HA1/AP1 adaptin sigma-1A subunit","clathrin assembly protein complex 1 sigma-1A small chain","HA1 19 kDa subunit"],"gene_symbol":"AP1S1","hgnc_symbol":"AP1S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100797678-100804877","ensembl_id":"ENSG00000106367"}},"GRch38":{"90":{"location":"7:101154397-101161596","ensembl_id":"ENSG00000106367"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19057675, 23423674, 30244301, 32306098, 24754424, 39541497"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MEDNIK syndrome, MONDO:0012251"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["21549342","21549336","21893181","22911656","28542515"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, X-linked 4, MIM# 300066"],"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":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp564K142","IAP","OST3B","MRX95"],"biotype":"protein_coding","hgnc_id":"HGNC:28880","gene_name":"magnesium transporter 1","omim_gene":["300715"],"alias_name":["oligosaccharyltransferase 3 homolog B (S. cerevisiae)"],"gene_symbol":"MAGT1","hgnc_symbol":"MAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77081861-77151090","ensembl_id":"ENSG00000102158"}},"GRch38":{"90":{"location":"X:77826364-77895593","ensembl_id":"ENSG00000102158"}}},"hgnc_date_symbol_changed":"2008-01-18"},"entity_type":"gene","entity_name":"MAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24550228","31036665","32451662"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM# 300853","XMEN","Low CD4","inverted CD4/CD8 ratio","reduced MAIT cells","poor proliferation to CD3","decreased memory B cells","progressive hypogammaglobulinaemia","reduced NK cell","EBV infection","lymphoma","viral infections","respiratory and GI infections","Glycosylation defects"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAN"],"biotype":"protein_coding","hgnc_id":"HGNC:8609","gene_name":"poly(A)-specific ribonuclease","omim_gene":["604212"],"alias_name":["deadenylation nuclease"],"gene_symbol":"PARN","hgnc_symbol":"PARN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14529558-14726585","ensembl_id":"ENSG00000140694"}},"GRch38":{"90":{"location":"16:14435701-14632728","ensembl_id":"ENSG00000140694"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"PARN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25893599","26342108","25848748","32452087"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 6, MIM# 616353"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIMAP3","IAN5"],"biotype":"protein_coding","hgnc_id":"HGNC:18005","gene_name":"GTPase, IMAP family member 5","omim_gene":["608086"],"alias_name":["immune-associated nucleotide-binding protein 5"],"gene_symbol":"GIMAP5","hgnc_symbol":"GIMAP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150419341-150447121","ensembl_id":"ENSG00000196329"}},"GRch38":{"90":{"location":"7:150722253-150750033","ensembl_id":"ENSG00000196329"}}},"hgnc_date_symbol_changed":"2004-10-30"},"entity_type":"gene","entity_name":"GIMAP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33956074"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["portal hypertension, noncirrhotic, 2 MONDO:0030397"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p110D"],"biotype":"protein_coding","hgnc_id":"HGNC:8977","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta","omim_gene":["602839"],"alias_name":["phosphatidylinositol 3-kinase, catalytic, delta polypeptide","phosphoinositide-3-kinase C"],"gene_symbol":"PIK3CD","hgnc_symbol":"PIK3CD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:9711790-9789172","ensembl_id":"ENSG00000171608"}},"GRch38":{"90":{"location":"1:9651732-9729114","ensembl_id":"ENSG00000171608"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"PIK3CD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37600808"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 14B, autosomal recessive, MIM# 619281","Immunodeficiency 14A, autosomal dominant, MIM# 615513"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic 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Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 30234181"],"evidence":["Literature","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":242,"hash_id":null,"name":"Homologous_recombination_deficiency_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.45","version_created":"2025-11-03T15:31:09.278966+11:00","relevant_disorders":[],"stats":{"number_of_genes":36,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluD2","GluR-delta-2"],"biotype":"protein_coding","hgnc_id":"HGNC:4576","gene_name":"glutamate ionotropic receptor delta type subunit 2","omim_gene":["602368"],"alias_name":null,"gene_symbol":"GRID2","hgnc_symbol":"GRID2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:93225550-94695707","ensembl_id":"ENSG00000152208"}},"GRch38":{"90":{"location":"4:92303622-93810157","ensembl_id":"ENSG00000152208"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"GRID2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32622959","32170608"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 18 MIM#616204"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FSP2","ADPSP","KIAA1083"],"biotype":"protein_coding","hgnc_id":"HGNC:11233","gene_name":"spastin","omim_gene":["604277"],"alias_name":null,"gene_symbol":"SPAST","hgnc_symbol":"SPAST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:32288680-32382706","ensembl_id":"ENSG00000021574"}},"GRch38":{"90":{"location":"2:32063611-32157637","ensembl_id":"ENSG00000021574"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"gene","entity_name":"SPAST","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 4, autosomal dominant, MIM# 182601"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":["ORF20","TTDN1"],"biotype":"protein_coding","hgnc_id":"HGNC:16002","gene_name":"M-phase specific PLK1 interacting protein","omim_gene":["609188"],"alias_name":null,"gene_symbol":"MPLKIP","hgnc_symbol":"MPLKIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40165622-40174258","ensembl_id":"ENSG00000168303"}},"GRch38":{"90":{"location":"7:40126023-40134659","ensembl_id":"ENSG00000168303"}}},"hgnc_date_symbol_changed":"2012-03-01"},"entity_type":"gene","entity_name":"MPLKIP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive 234050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"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:6600","gene_name":"DNA ligase 3","omim_gene":["600940"],"alias_name":null,"gene_symbol":"LIG3","hgnc_symbol":"LIG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33307513-33332083","ensembl_id":"ENSG00000005156"}},"GRch38":{"90":{"location":"17:34980494-35009743","ensembl_id":"ENSG00000005156"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"LIG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33855352"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"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":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","omim_gene":["171834"],"alias_name":null,"gene_symbol":"PIK3CA","hgnc_symbol":"PIK3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:178865902-178957881","ensembl_id":"ENSG00000121879"}},"GRch38":{"90":{"location":"3:179148114-179240093","ensembl_id":"ENSG00000121879"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"PIK3CA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["22729224","23246288"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi","Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome MIM#602501"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"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":["PCDGF","PGRN","CLN11"],"biotype":"protein_coding","hgnc_id":"HGNC:4601","gene_name":"granulin precursor","omim_gene":["138945"],"alias_name":["progranulin"],"gene_symbol":"GRN","hgnc_symbol":"GRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42422614-42430470","ensembl_id":"ENSG00000030582"}},"GRch38":{"90":{"location":"17:44345086-44353102","ensembl_id":"ENSG00000030582"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"GRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 11, MIM#614706"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"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":["LOC338328","GPI-HBP1"],"biotype":null,"hgnc_id":"HGNC:24945","gene_name":"glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1","omim_gene":["612757"],"alias_name":["endothelial cell LPL transporter"],"gene_symbol":"GPIHBP1","hgnc_symbol":"GPIHBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144295068-144299044","ensembl_id":"ENSG00000182851"}},"GRch38":{"90":{"location":"8:143213193-143217170","ensembl_id":"ENSG00000277494"}}},"hgnc_date_symbol_changed":"2008-02-07"},"entity_type":"gene","entity_name":"GPIHBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Hyperlipoproteinemia, type ID"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":332,"hash_id":null,"name":"Dyslipidaemia","disease_group":"Endocrine disorders; Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.","status":"public","version":"0.51","version_created":"2026-04-03T15:42:30.681985+11:00","relevant_disorders":["Abnormal circulating lipid concentration","HP:0003119"],"stats":{"number_of_genes":29,"number_of_strs":0,"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33977139"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK) Syndrome (MONDO:0012290) (MIM#609528)","Cerebral Dysgenesis and severe psychomotor retardation, axonal sensory-motor Neuropathy, Ichthyosis, palmoplantar Keratoderma, fatal by second decade of life"],"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":["GOK","D11S4896E"],"biotype":"protein_coding","hgnc_id":"HGNC:11386","gene_name":"stromal interaction molecule 1","omim_gene":["605921"],"alias_name":null,"gene_symbol":"STIM1","hgnc_symbol":"STIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3875757-4114439","ensembl_id":"ENSG00000167323"}},"GRch38":{"90":{"location":"11:3854527-4093210","ensembl_id":"ENSG00000167323"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"STIM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31448844"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Myopathy, tubular aggregate, 1 (MIM#160565)","Stormorken syndrome\t(MIM#185070)"],"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},{"gene_data":{"alias":["FLJ38348","CENPY","CENP-Y"],"biotype":"protein_coding","hgnc_id":"HGNC:26768","gene_name":"G-patch domain containing 11","omim_gene":null,"alias_name":["centromere protein Y"],"gene_symbol":"GPATCH11","hgnc_symbol":"GPATCH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:37311594-37326387","ensembl_id":"ENSG00000152133"}},"GRch38":{"90":{"location":"2:37084451-37099244","ensembl_id":"ENSG00000152133"}}},"hgnc_date_symbol_changed":"2013-01-28"},"entity_type":"gene","entity_name":"GPATCH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39572588"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related","Leber congenital amaurosis and developmental delay"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"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:497","gene_name":"transient receptor potential cation channel subfamily A member 1","omim_gene":["604775"],"alias_name":null,"gene_symbol":"TRPA1","hgnc_symbol":"TRPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72932152-72987852","ensembl_id":"ENSG00000104321"}},"GRch38":{"90":{"location":"8:72019917-72075617","ensembl_id":"ENSG00000104321"}}},"hgnc_date_symbol_changed":"2003-11-20"},"entity_type":"gene","entity_name":"TRPA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28314413","21468319","24778270","20718100","16564016","28436534","24564660","20547126"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Familial episodic pain syndrome type I","Episodic pain syndrome, familial,  615040"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3126,"hash_id":null,"name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.","status":"public","version":"0.38","version_created":"2026-02-22T15:47:27.675595+11:00","relevant_disorders":["Pain","HP:0012531"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"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."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["FG syndrome 2, 300321 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1208","MGC4170"],"biotype":"protein_coding","hgnc_id":"HGNC:29670","gene_name":"N-acetylglucosamine-1-phosphate transferase alpha and beta subunits","omim_gene":["607840"],"alias_name":null,"gene_symbol":"GNPTAB","hgnc_symbol":"GNPTAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102139275-102224716","ensembl_id":"ENSG00000111670"}},"GRch38":{"90":{"location":"12:101745497-101830938","ensembl_id":"ENSG00000111670"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"GNPTAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mucolipidosis III alpha/beta, 252600 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3482","gene_name":"electron transfer flavoprotein beta subunit","omim_gene":["130410"],"alias_name":null,"gene_symbol":"ETFB","hgnc_symbol":"ETFB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51848423-51869672","ensembl_id":"ENSG00000105379"}},"GRch38":{"90":{"location":"19:51345169-51366418","ensembl_id":"ENSG00000105379"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"ETFB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glutaric acidemia IIB, 231680 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PLAP","PLA2P","FLJ11281","FLJ12699","DOA1"],"biotype":"protein_coding","hgnc_id":"HGNC:9043","gene_name":"phospholipase A2 activating protein","omim_gene":["603873"],"alias_name":["DOA1 homolog (S. cerevisiae)"],"gene_symbol":"PLAA","hgnc_symbol":"PLAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26904081-26947461","ensembl_id":"ENSG00000137055"}},"GRch38":{"90":{"location":"9:26904083-26947463","ensembl_id":"ENSG00000137055"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PLAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["mer","RP38","c-Eyk","Tyro12"],"biotype":"protein_coding","hgnc_id":"HGNC:7027","gene_name":"MER proto-oncogene, tyrosine kinase","omim_gene":["604705"],"alias_name":null,"gene_symbol":"MERTK","hgnc_symbol":"MERTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:112656056-112787138","ensembl_id":"ENSG00000153208"}},"GRch38":{"90":{"location":"2:111898479-112029561","ensembl_id":"ENSG00000153208"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"MERTK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 38, 613862 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX37"],"biotype":"protein_coding","hgnc_id":"HGNC:4278","gene_name":"gap junction protein alpha 4","omim_gene":["121012"],"alias_name":["connexin 37"],"gene_symbol":"GJA4","hgnc_symbol":"GJA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:35258599-35261348","ensembl_id":"ENSG00000187513"}},"GRch38":{"90":{"location":"1:34792998-34795747","ensembl_id":"ENSG00000187513"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","29207017"],"evidence":["Literature"],"phenotypes":["Primary ovarian insufficiency"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1140"],"biotype":"protein_coding","hgnc_id":"HGNC:19750","gene_name":"tetratricopeptide repeat domain 7A","omim_gene":["609332"],"alias_name":null,"gene_symbol":"TTC7A","hgnc_symbol":"TTC7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47143296-47303276","ensembl_id":"ENSG00000068724"}},"GRch38":{"90":{"location":"2:46916157-47076137","ensembl_id":"ENSG00000068724"}}},"hgnc_date_symbol_changed":"2004-06-02"},"entity_type":"gene","entity_name":"TTC7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Immunodeficiency, combined, with intestinal atresias"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ39417"],"biotype":"protein_coding","hgnc_id":"HGNC:2079","gene_name":"CLN8, transmembrane ER and ERGIC protein","omim_gene":["607837"],"alias_name":null,"gene_symbol":"CLN8","hgnc_symbol":"CLN8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:1703944-1734738","ensembl_id":"ENSG00000182372"}},"GRch38":{"90":{"location":"8:1755778-1801711","ensembl_id":"ENSG00000182372"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"CLN8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 8"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX43","ODD","ODOD","SDTY3"],"biotype":"protein_coding","hgnc_id":"HGNC:4274","gene_name":"gap junction protein alpha 1","omim_gene":["121014"],"alias_name":["oculodentodigital dysplasia (syndactyly type III)","connexin 43"],"gene_symbol":"GJA1","hgnc_symbol":"GJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121756838-121770873","ensembl_id":"ENSG00000152661"}},"GRch38":{"90":{"location":"6:121435692-121449727","ensembl_id":"ENSG00000152661"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"GJA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Oculodentodigital dysplasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MED"],"biotype":"protein_coding","hgnc_id":"HGNC:2218","gene_name":"collagen type IX alpha 2 chain","omim_gene":["120260"],"alias_name":null,"gene_symbol":"COL9A2","hgnc_symbol":"COL9A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40766159-40783488","ensembl_id":"ENSG00000049089"}},"GRch38":{"90":{"location":"1:40300487-40317816","ensembl_id":"ENSG00000049089"}}},"hgnc_date_symbol_changed":"1993-06-16"},"entity_type":"gene","entity_name":"COL9A2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21671392","31090205","33356723"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Illumina TruGenome Clinical Sequencing Services"],"phenotypes":["Stickler syndrome, type V, MIM# 614284"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HGFR","RCCP2","DFNB97"],"biotype":"protein_coding","hgnc_id":"HGNC:7029","gene_name":"MET proto-oncogene, receptor tyrosine kinase","omim_gene":["164860"],"alias_name":["hepatocyte growth factor receptor"],"gene_symbol":"MET","hgnc_symbol":"MET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116312444-116438440","ensembl_id":"ENSG00000105976"}},"GRch38":{"90":{"location":"7:116672390-116798386","ensembl_id":"ENSG00000105976"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCD","hMCD"],"biotype":"protein_coding","hgnc_id":"HGNC:7150","gene_name":"malonyl-CoA decarboxylase","omim_gene":["606761"],"alias_name":null,"gene_symbol":"MLYCD","hgnc_symbol":"MLYCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:83932731-83949787","ensembl_id":"ENSG00000103150"}},"GRch38":{"90":{"location":"16:83899126-83927026","ensembl_id":"ENSG00000103150"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"MLYCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10455107","10417274","12955715"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Malonyl-CoA decarboxylase deficiency\t248360","malonic aciduria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3470,"hash_id":null,"name":"Hyperammonaemia","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with urea cycle disorders and other metabolic conditions that cause hyperammonaemia.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"0.10","version_created":"2023-03-02T14:41:08.610876+11:00","relevant_disorders":["Hyperammonaemia","HP:0001987"],"stats":{"number_of_genes":43,"number_of_strs":0,"number_of_regions":0},"types":[{"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."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VBCH","DAND6"],"biotype":"protein_coding","hgnc_id":"HGNC:13771","gene_name":"sclerostin","omim_gene":["605740"],"alias_name":null,"gene_symbol":"SOST","hgnc_symbol":"SOST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41831099-41836156","ensembl_id":"ENSG00000167941"}},"GRch38":{"90":{"location":"17:43753731-43758788","ensembl_id":"ENSG00000167941"}}},"hgnc_date_symbol_changed":"2002-02-20"},"entity_type":"gene","entity_name":"SOST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Van Buchem disease 239100","Sclerosteosis 1 269500","Craniodiaphyseal dysplasia, autosomal dominant 122860"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"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":["ASP","ACY2"],"biotype":"protein_coding","hgnc_id":"HGNC:756","gene_name":"aspartoacylase","omim_gene":["608034"],"alias_name":["aminoacylase 2","Canavan disease"],"gene_symbol":"ASPA","hgnc_symbol":"ASPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3375668-3406713","ensembl_id":"ENSG00000108381"}},"GRch38":{"90":{"location":"17:3472374-3503419","ensembl_id":"ENSG00000108381"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Canavan disease, MIM# 271900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"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":["10790201","8640223, 27017278, 26938784, 15725586, 30232666","37176116","32805447","31541013"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myopathy, centronuclear, X-linked MIM#310400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADHAPS","ADAS","ALDHPSY","ADPS","ADAP-S"],"biotype":"protein_coding","hgnc_id":"HGNC:327","gene_name":"alkylglycerone phosphate synthase","omim_gene":["603051"],"alias_name":null,"gene_symbol":"AGPS","hgnc_symbol":"AGPS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:178257372-178408564","ensembl_id":"ENSG00000018510"}},"GRch38":{"90":{"location":"2:177392644-177559299","ensembl_id":"ENSG00000018510"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"AGPS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9553082","8611652","21990100"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450C17","CPT7","S17AH"],"biotype":"protein_coding","hgnc_id":"HGNC:2593","gene_name":"cytochrome P450 family 17 subfamily A member 1","omim_gene":["609300"],"alias_name":["Steroid 17-alpha-monooxygenase"],"gene_symbol":"CYP17A1","hgnc_symbol":"CYP17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104590288-104597290","ensembl_id":"ENSG00000148795"}},"GRch38":{"90":{"location":"10:102830531-102837533","ensembl_id":"ENSG00000148795"}}},"hgnc_date_symbol_changed":"2003-02-28"},"entity_type":"gene","entity_name":"CYP17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2843762","14671162","2026124","35178494","35043964"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["17-alpha-hydroxylase/17,20-lyase deficiency MIM#202110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14917"],"biotype":"protein_coding","hgnc_id":"HGNC:21061","gene_name":"serine active site containing 1","omim_gene":["614725"],"alias_name":null,"gene_symbol":"SERAC1","hgnc_symbol":"SERAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158530536-158589312","ensembl_id":"ENSG00000122335"}},"GRch38":{"90":{"location":"6:158109515-158168270","ensembl_id":"ENSG00000122335"}}},"hgnc_date_symbol_changed":"2003-05-12"},"entity_type":"gene","entity_name":"SERAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","29205472","32684373","24741715"],"evidence":["Expert Review Green","Literature"],"phenotypes":["3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"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":["COCH-5B2"],"biotype":"protein_coding","hgnc_id":"HGNC:2180","gene_name":"cochlin","omim_gene":["603196"],"alias_name":null,"gene_symbol":"COCH","hgnc_symbol":"COCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31343720-31364271","ensembl_id":"ENSG00000100473"}},"GRch38":{"90":{"location":"14:30874514-30895065","ensembl_id":"ENSG00000100473"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"COCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21046548","26256111","9806553","16151338","28099493","22931125","18312449","28116169","28733840","17561763","18697796","32562050","29449721","32939038","22610276"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 110, MIM# 618094"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Pituitary hormone deficiency, combined, 2, MIM#262600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF53","BRCC1","PPP1R53","FANCS"],"biotype":"protein_coding","hgnc_id":"HGNC:1100","gene_name":"BRCA1, DNA repair associated","omim_gene":["113705"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"gene_symbol":"BRCA1","hgnc_symbol":"BRCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41196312-41277500","ensembl_id":"ENSG00000012048"}},"GRch38":{"90":{"location":"17:43044295-43170245","ensembl_id":"ENSG00000012048"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"BRCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Fanconi anemia, complementation group S, MIM# 617883"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["STSL"],"biotype":"protein_coding","hgnc_id":"HGNC:13886","gene_name":"ATP binding cassette subfamily G member 5","omim_gene":["605459"],"alias_name":["sterolin 1"],"gene_symbol":"ABCG5","hgnc_symbol":"ABCG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44039611-44066004","ensembl_id":"ENSG00000138075"}},"GRch38":{"90":{"location":"2:43812472-43838865","ensembl_id":"ENSG00000138075"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Sitosterolaemia 2, MIM# 618666"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC126582","DKFZp781B0869"],"biotype":"protein_coding","hgnc_id":"HGNC:904","gene_name":"axin 2","omim_gene":["604025"],"alias_name":["conductin","axil"],"gene_symbol":"AXIN2","hgnc_symbol":"AXIN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:63524681-63557765","ensembl_id":"ENSG00000168646"}},"GRch38":{"90":{"location":"17:65528563-65561647","ensembl_id":"ENSG00000168646"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"AXIN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["AXIN2-related attenuated familial adenomatous polyposis, MONDO:0018426","Oligodontia-cancer predisposition syndrome, MONDO:0012075","Oligodontia-colorectal cancer syndrome, MIM#608615"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with colorectal cancer and polyposis and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD95","APO-1"],"biotype":"protein_coding","hgnc_id":"HGNC:11920","gene_name":"Fas cell surface death receptor","omim_gene":["134637"],"alias_name":["TNF receptor superfamily member 6"],"gene_symbol":"FAS","hgnc_symbol":"FAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:90750414-90775542","ensembl_id":"ENSG00000026103"}},"GRch38":{"90":{"location":"10:88990582-89015785","ensembl_id":"ENSG00000026103"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"FAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoimmune lymphoproliferative syndrome, type IA\tMIM#601859"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"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":[]}]}