{"count":36078,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=182","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=180","results":[{"gene_data":{"alias":["DAT"],"biotype":"protein_coding","hgnc_id":"HGNC:11049","gene_name":"solute carrier family 6 member 3","omim_gene":["126455"],"alias_name":["dopamine transporter"],"gene_symbol":"SLC6A3","hgnc_symbol":"SLC6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1392909-1445545","ensembl_id":"ENSG00000142319"}},"GRch38":{"90":{"location":"5:1392790-1445430","ensembl_id":"ENSG00000142319"}}},"hgnc_date_symbol_changed":"1994-03-16"},"entity_type":"gene","entity_name":"SLC6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21112253"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Parkinsonism-dystonia, infantile, 1, MIM# 613135"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"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":["RNF63","ZFP127","MGC88288"],"biotype":"protein_coding","hgnc_id":"HGNC:7114","gene_name":"makorin ring finger protein 3","omim_gene":["603856"],"alias_name":["zinc finger protein 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. 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request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"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":"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","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":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["CHK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1925","gene_name":"checkpoint kinase 1","omim_gene":["603078"],"alias_name":null,"gene_symbol":"CHEK1","hgnc_symbol":"CHEK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125495036-125546150","ensembl_id":"ENSG00000149554"}},"GRch38":{"90":{"location":"11:125625136-125676255","ensembl_id":"ENSG00000149554"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"CHEK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33953335","33948904"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oocyte/zygote/embryo maturation arrest 21, MIM# 620610"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["CIA1"],"biotype":"protein_coding","hgnc_id":"HGNC:14280","gene_name":"cytosolic iron-sulfur assembly component 1","omim_gene":["604333"],"alias_name":null,"gene_symbol":"CIAO1","hgnc_symbol":"CIAO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96931870-96939087","ensembl_id":"ENSG00000144021"}},"GRch38":{"90":{"location":"2:96266132-96273349","ensembl_id":"ENSG00000144021"}}},"hgnc_date_symbol_changed":"2006-11-23"},"entity_type":"gene","entity_name":"CIAO1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["38411040","38196629"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 10, MIM#620960"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["P-dlg","KIAA0583"],"biotype":"protein_coding","hgnc_id":"HGNC:2904","gene_name":"discs large MAGUK scaffold protein 5","omim_gene":["604090"],"alias_name":null,"gene_symbol":"DLG5","hgnc_symbol":"DLG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79550549-79686378","ensembl_id":"ENSG00000151208"}},"GRch38":{"90":{"location":"10:77790791-77926526","ensembl_id":"ENSG00000151208"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DLG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32631816"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Yuksel-Vogel-Bauer syndrome, MIM#620703"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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:1067","gene_name":"bone morphogenetic protein 1","omim_gene":["112264"],"alias_name":["procollagen C-endopeptidase"],"gene_symbol":"BMP1","hgnc_symbol":"BMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:22022249-22069839","ensembl_id":"ENSG00000168487"}},"GRch38":{"90":{"location":"8:22164736-22212326","ensembl_id":"ENSG00000168487"}}},"hgnc_date_symbol_changed":"1990-06-11"},"entity_type":"gene","entity_name":"BMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25402547","22052668","22482805","25214535"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type XIII , MIM#614856"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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:5136","gene_name":"homeobox D13","omim_gene":["142989"],"alias_name":null,"gene_symbol":"HOXD13","hgnc_symbol":"HOXD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176957619-176960666","ensembl_id":"ENSG00000128714"}},"GRch38":{"90":{"location":"2:176092891-176095938","ensembl_id":"ENSG00000128714"}}},"hgnc_date_symbol_changed":"1991-05-08"},"entity_type":"gene","entity_name":"HOXD13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34777468","32509852"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200","Syndactyly, type V, MIM# 186300","Synpolydactyly 1, MIM# 186000","Brachydactyly-syndactyly syndrome, MIM# 610713"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["MGC4083","HsT1601"],"biotype":"protein_coding","hgnc_id":"HGNC:20776","gene_name":"tubulin beta 6 class V","omim_gene":["615103"],"alias_name":["tubulin beta MGC4083","class V beta-tubulin"],"gene_symbol":"TUBB6","hgnc_symbol":"TUBB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12307668-12344319","ensembl_id":"ENSG00000176014"}},"GRch38":{"90":{"location":"18:12307669-12344320","ensembl_id":"ENSG00000176014"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["29016863"],"evidence":["Literature"],"phenotypes":["facial palsy, congenital, with ptosis and velopharyngeal dysfunction MONDO:0060589"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["FLJ10889","FLJ10694","DHLP1"],"biotype":"protein_coding","hgnc_id":"HGNC:16717","gene_name":"DEAH-box helicase 32 (putative)","omim_gene":["607960"],"alias_name":null,"gene_symbol":"DHX32","hgnc_symbol":"DHX32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:127524906-127585005","ensembl_id":"ENSG00000089876"}},"GRch38":{"90":{"location":"10:125836337-125896436","ensembl_id":"ENSG00000089876"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"DHX32","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32989326"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, DHX32-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["FLJ20257","MePCE"],"biotype":"protein_coding","hgnc_id":"HGNC:20247","gene_name":"methylphosphate capping enzyme","omim_gene":["611478"],"alias_name":null,"gene_symbol":"MEPCE","hgnc_symbol":"MEPCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100026413-100031741","ensembl_id":"ENSG00000146834"}},"GRch38":{"90":{"location":"7:100428790-100434126","ensembl_id":"ENSG00000146834"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"MEPCE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31467394"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual disability","seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["KIAA1070"],"biotype":"protein_coding","hgnc_id":"HGNC:14291","gene_name":"neuroligin 1","omim_gene":["600568"],"alias_name":null,"gene_symbol":"NLGN1","hgnc_symbol":"NLGN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:173114074-174004434","ensembl_id":"ENSG00000169760"}},"GRch38":{"90":{"location":"3:173396284-174286644","ensembl_id":"ENSG00000169760"}}},"hgnc_date_symbol_changed":"2001-01-02"},"entity_type":"gene","entity_name":"NLGN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30460678"],"evidence":["Expert Review Red","Literature"],"phenotypes":["intellectual disability","autism"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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:2709","gene_name":"dopachrome tautomerase","omim_gene":["191275"],"alias_name":["dopachrome delta-isomerase","L-dopachrome isomerase"],"gene_symbol":"DCT","hgnc_symbol":"DCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:95089558-95131936","ensembl_id":"ENSG00000080166"}},"GRch38":{"90":{"location":"13:94436808-94479682","ensembl_id":"ENSG00000080166"}}},"hgnc_date_symbol_changed":"1993-11-04"},"entity_type":"gene","entity_name":"DCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33100333"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oculocutaneous albinism, type VIII, MIM# 619165"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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:9077","gene_name":"polo like kinase 1","omim_gene":["602098"],"alias_name":null,"gene_symbol":"PLK1","hgnc_symbol":"PLK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23688977-23701688","ensembl_id":"ENSG00000166851"}},"GRch38":{"90":{"location":"16:23677656-23690367","ensembl_id":"ENSG00000166851"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"PLK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33875846"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, PLK1-related, MONDO:0700092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"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":["KIAA1094","DK1"],"biotype":"protein_coding","hgnc_id":"HGNC:23406","gene_name":"dolichol kinase","omim_gene":["610746"],"alias_name":["dolichol kinase 1"],"gene_symbol":"DOLK","hgnc_symbol":"DOLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131707809-131709898","ensembl_id":"ENSG00000175283"}},"GRch38":{"90":{"location":"9:128945530-128947619","ensembl_id":"ENSG00000175283"}}},"hgnc_date_symbol_changed":"2007-02-09"},"entity_type":"gene","entity_name":"DOLK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273964","22242004","23890587","30653653","28816422","24144945"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["DK1-CDG, MONDO:0012556","Congenital disorder of glycosylation, type Im, MIM# 610768"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2861","gene_name":"dihydrofolate reductase","omim_gene":["126060"],"alias_name":null,"gene_symbol":"DHFR","hgnc_symbol":"DHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:79922047-79950802","ensembl_id":"ENSG00000228716"}},"GRch38":{"90":{"location":"5:80626228-80654983","ensembl_id":"ENSG00000228716"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DHFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21310276","21310277"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM#\t613839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":145,"hash_id":null,"name":"Neurotransmitter Defects","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"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":["trnQ"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7495","gene_name":"mitochondrially encoded tRNA glutamine","omim_gene":["590030"],"alias_name":null,"gene_symbol":"MT-TQ","hgnc_symbol":"MT-TQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}},"GRch38":{"90":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TQ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["11171912","10996779","17003408","11335700"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TQ-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":[]},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34557911"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Short QT syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":174,"hash_id":null,"name":"Short QT syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.7","version_created":"2023-07-25T17:54:13.214709+10:00","relevant_disorders":["Shortened QT interval","HP:0012232"],"stats":{"number_of_genes":9,"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":["DKFZp761H079","JBTS8"],"biotype":"protein_coding","hgnc_id":"HGNC:25419","gene_name":"ADP ribosylation factor like GTPase 13B","omim_gene":["608922"],"alias_name":null,"gene_symbol":"ARL13B","hgnc_symbol":"ARL13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:93698983-93774512","ensembl_id":"ENSG00000169379"}},"GRch38":{"90":{"location":"3:93980139-94055668","ensembl_id":"ENSG00000169379"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"ARL13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18674751","25138100","26092869","27894351","29255182","17488627"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Joubert syndrome 8, MIM# 612291"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434L1435","KIAA1885","G7a"],"biotype":"protein_coding","hgnc_id":"HGNC:21642","gene_name":"valyl-tRNA synthetase 2, mitochondrial","omim_gene":["612802"],"alias_name":["valine tRNA ligase 2, mitochondrial"],"gene_symbol":"VARS2","hgnc_symbol":"VARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30876019-30894236","ensembl_id":"ENSG00000137411"}},"GRch38":{"90":{"location":"6:30908242-30926459","ensembl_id":"ENSG00000137411"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"VARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27502409","29137650","31064326","31623496"],"evidence":["Expert Review Green","Expert Review Green","Literature","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 20, 615917","Epilepsy"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22729224","23745724","33604570"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["ICF45","FLJ11601","FLJ20546","IHG-1","hTHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:26053","gene_name":"tRNA-histidine guanylyltransferase 1 like","omim_gene":null,"alias_name":["interphase cytoplasmic foci protein 45","induced by high glucose-1"],"gene_symbol":"THG1L","hgnc_symbol":"THG1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:157158205-157168456","ensembl_id":"ENSG00000113272"}},"GRch38":{"90":{"location":"5:157731197-157741448","ensembl_id":"ENSG00000113272"}}},"hgnc_date_symbol_changed":"2006-09-01"},"entity_type":"gene","entity_name":"THG1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33682303"],"evidence":["Expert Review Amber","Literature","Expert list","Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 28 - 618800","Epilepsy","Intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["Kv1.1","RBK1","HUK1","MBK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6218","gene_name":"potassium voltage-gated channel subfamily A member 1","omim_gene":["176260"],"alias_name":null,"gene_symbol":"KCNA1","hgnc_symbol":"KCNA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:5019071-5040527","ensembl_id":"ENSG00000111262"}},"GRch38":{"90":{"location":"12:4909893-4918256","ensembl_id":"ENSG00000111262"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32316562"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy","seizures","epileptic encephalopathies","episodic ataxia type 1 and epilepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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. 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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":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","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":["HGPS","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:6636","gene_name":"lamin A/C","omim_gene":["150330"],"alias_name":["mandibuloacral dysplasia type A"],"gene_symbol":"LMNA","hgnc_symbol":"LMNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156052364-156109880","ensembl_id":"ENSG00000160789"}},"GRch38":{"90":{"location":"1:156082573-156140089","ensembl_id":"ENSG00000160789"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Cardiomyopathy, dilated, 1A, MIM# 115200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne 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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":null},{"gene_data":{"alias":["DKFZP586G0522","ACT1","CIKS"],"biotype":"protein_coding","hgnc_id":"HGNC:1343","gene_name":"TRAF3 interacting protein 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genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\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":"1.39","version_created":"2026-04-15T16:26:05.053680+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"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":["CD119"],"biotype":"protein_coding","hgnc_id":"HGNC:5439","gene_name":"interferon gamma receptor 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Hospital).","status":"public","version":"1.39","version_created":"2026-04-15T16:26:05.053680+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"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":["HGF","GF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11187","gene_name":"SOS Ras/Rac guanine nucleotide exchange factor 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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":"1.756","version_created":"2026-04-24T13:54:47.562690+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"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":["FLJ30899","dJ310J6.1","FLJ34235","bA57L9.1","BROMI"],"biotype":"protein_coding","hgnc_id":"HGNC:21485","gene_name":"TBC1 domain family member 32","omim_gene":["615867"],"alias_name":["broad-minded homolog"],"gene_symbol":"TBC1D32","hgnc_symbol":"TBC1D32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121400640-121655891","ensembl_id":"ENSG00000146350"}},"GRch38":{"90":{"location":"6:121079494-121334745","ensembl_id":"ENSG00000146350"}}},"hgnc_date_symbol_changed":"2013-07-10"},"entity_type":"gene","entity_name":"TBC1D32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24285566","32573025","32060556","31130284","36826837","40319332"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Orofacial digital syndrome type IX, MIM#258865"],"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. 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It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"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":[]},{"gene_data":{"alias":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19726876","20300641","20684003","18840361"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 4, MIM# 613327","MONDO:0013225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Beta2"],"biotype":"protein_coding","hgnc_id":"HGNC:20771","gene_name":"tubulin beta 4B class IVb","omim_gene":["602660"],"alias_name":["class IVb beta-tubulin"],"gene_symbol":"TUBB4B","hgnc_symbol":"TUBB4B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140135665-140138159","ensembl_id":"ENSG00000188229"}},"GRch38":{"90":{"location":"9:137241213-137243707","ensembl_id":"ENSG00000188229"}}},"hgnc_date_symbol_changed":"2011-10-10"},"entity_type":"gene","entity_name":"TUBB4B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29198720"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Leber congenital amaurosis with early-onset deafness\tMIM#617879","Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"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":["GAN1","KLHL16"],"biotype":"protein_coding","hgnc_id":"HGNC:4137","gene_name":"gigaxonin","omim_gene":["605379"],"alias_name":["kelch-like family member 16"],"gene_symbol":"GAN","hgnc_symbol":"GAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:81348557-81424489","ensembl_id":"ENSG00000261609"}},"GRch38":{"90":{"location":"16:81314952-81390884","ensembl_id":"ENSG00000261609"}}},"hgnc_date_symbol_changed":"1998-09-14"},"entity_type":"gene","entity_name":"GAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Giant axonal neuropathy-1, 256850 (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":["AYP1","AGS3"],"biotype":"protein_coding","hgnc_id":"HGNC:24116","gene_name":"ribonuclease H2 subunit C","omim_gene":["610330"],"alias_name":["Aicardi-Goutieres syndrome 3"],"gene_symbol":"RNASEH2C","hgnc_symbol":"RNASEH2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65482367-65488418","ensembl_id":"ENSG00000172922"}},"GRch38":{"90":{"location":"11:65714896-65720947","ensembl_id":"ENSG00000172922"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 3, 610329 (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":["CPAP","BM032","LAP","LIP1","Sas-4","SASS4","SCKL4"],"biotype":"protein_coding","hgnc_id":"HGNC:17272","gene_name":"centromere protein J","omim_gene":["609279"],"alias_name":["centrosomal P4.1-associated protein"],"gene_symbol":"CENPJ","hgnc_symbol":"CENPJ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:25457171-25497018","ensembl_id":"ENSG00000151849"}},"GRch38":{"90":{"location":"13:24882284-24922889","ensembl_id":"ENSG00000151849"}}},"hgnc_date_symbol_changed":"2002-02-15"},"entity_type":"gene","entity_name":"CENPJ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly 6, primary, autosomal recessive, 608393 (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":["MSS1","THDF1","GTPBG3","MTGP1","FLJ14700"],"biotype":"protein_coding","hgnc_id":"HGNC:14880","gene_name":"GTP binding protein 3, mitochondrial","omim_gene":["608536"],"alias_name":null,"gene_symbol":"GTPBP3","hgnc_symbol":"GTPBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17445729-17453544","ensembl_id":"ENSG00000130299"}},"GRch38":{"90":{"location":"19:17334920-17342735","ensembl_id":"ENSG00000130299"}}},"hgnc_date_symbol_changed":"2003-11-27"},"entity_type":"gene","entity_name":"GTPBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34276756","25434004"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Combined oxidative phosphorylation deficiency 23 MIM#616198"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"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":[]},{"gene_data":{"alias":["Hs.6719","BCS","h-BCS","BJS"],"biotype":"protein_coding","hgnc_id":"HGNC:1020","gene_name":"BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","omim_gene":["603647"],"alias_name":["GRACILE syndrome","Bjornstad syndrome"],"gene_symbol":"BCS1L","hgnc_symbol":"BCS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219523487-219528166","ensembl_id":"ENSG00000074582"}},"GRch38":{"90":{"location":"2:218658764-218663443","ensembl_id":"ENSG00000074582"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"BCS1L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["MetBioNet","Expert Review Red","NHS GMS"],"phenotypes":["Leigh syndrome, 256000","Mitochondrial complex III deficiency, nuclear type 1, 124000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"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":null},{"gene_data":{"alias":["KIAA0803","AKAP350","AKAP450","CG-NAP","YOTIAO","HYPERION","PRKA9","MU-RMS-40.16A","PPP1R45","LQT11"],"biotype":"protein_coding","hgnc_id":"HGNC:379","gene_name":"A-kinase anchoring protein 9","omim_gene":["604001"],"alias_name":["A-kinase anchoring protein 450","AKAP9-BRAF fusion protein","AKAP120-like protein","centrosome- and golgi-localized protein kinase N-associated protein","protein kinase A anchoring protein 9","A-kinase anchor protein, 350kDa","protein phosphatase 1, regulatory subunit 45","yotiao"],"gene_symbol":"AKAP9","hgnc_symbol":"AKAP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:91570181-91739987","ensembl_id":"ENSG00000127914"}},"GRch38":{"90":{"location":"7:91940867-92110673","ensembl_id":"ENSG00000127914"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"AKAP9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Long QT syndrome"],"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":["OCIF","TR1"],"biotype":"protein_coding","hgnc_id":"HGNC:11909","gene_name":"TNF receptor superfamily member 11b","omim_gene":["602643"],"alias_name":null,"gene_symbol":"TNFRSF11B","hgnc_symbol":"TNFRSF11B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:119935796-119964439","ensembl_id":"ENSG00000164761"}},"GRch38":{"90":{"location":"8:118923557-118952200","ensembl_id":"ENSG00000164761"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"TNFRSF11B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Paget disease"],"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":["FLJ10300","FAP163"],"biotype":"protein_coding","hgnc_id":"HGNC:21862","gene_name":"WD repeat domain 60","omim_gene":["615462"],"alias_name":null,"gene_symbol":"WDR60","hgnc_symbol":"WDR60","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:158649269-158749438","ensembl_id":"ENSG00000126870"}},"GRch38":{"90":{"location":"7:158856578-158956747","ensembl_id":"ENSG00000126870"}}},"hgnc_date_symbol_changed":"2005-04-19"},"entity_type":"gene","entity_name":"WDR60","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["SRTD8","SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY"],"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":["ATV","AT-V2","AT-V1"],"biotype":"protein_coding","hgnc_id":"HGNC:7652","gene_name":"nibrin","omim_gene":["602667"],"alias_name":null,"gene_symbol":"NBN","hgnc_symbol":"NBN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:90945564-91015456","ensembl_id":"ENSG00000104320"}},"GRch38":{"90":{"location":"8:89933336-90003228","ensembl_id":"ENSG00000104320"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"NBN","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":["MCCB"],"biotype":"protein_coding","hgnc_id":"HGNC:6937","gene_name":"methylcrotonoyl-CoA carboxylase 2","omim_gene":["609014"],"alias_name":["methylcrotonoyl-CoA carboxylase beta"],"gene_symbol":"MCCC2","hgnc_symbol":"MCCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70883115-70954531","ensembl_id":"ENSG00000131844"}},"GRch38":{"90":{"location":"5:71587288-71658704","ensembl_id":"ENSG00000131844"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","11181649"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210","Organic acidurias"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"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":[]},{"gene_data":{"alias":["Em:AC019205.2","KHDC2"],"biotype":"protein_coding","hgnc_id":"HGNC:21382","gene_name":"oocyte expressed protein","omim_gene":["611689"],"alias_name":["KH homology domain containing 2"],"gene_symbol":"OOEP","hgnc_symbol":"OOEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74078278-74104856","ensembl_id":"ENSG00000203907"}},"GRch38":{"90":{"location":"6:73368555-73395133","ensembl_id":"ENSG00000203907"}}},"hgnc_date_symbol_changed":"2007-11-13"},"entity_type":"gene","entity_name":"OOEP","confidence_level":"1","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["29574422"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Multi locus imprinting disturbance in offspring"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.9","version_created":"2025-11-11T22:13:10.948475+11:00","relevant_disorders":[],"stats":{"number_of_genes":26,"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":null},{"gene_data":{"alias":["FLJ10631"],"biotype":"protein_coding","hgnc_id":"HGNC:29832","gene_name":"NAD synthetase 1","omim_gene":["608285"],"alias_name":null,"gene_symbol":"NADSYN1","hgnc_symbol":"NADSYN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71164155-71235153","ensembl_id":"ENSG00000172890"}},"GRch38":{"90":{"location":"11:71453109-71524107","ensembl_id":"ENSG00000172890"}}},"hgnc_date_symbol_changed":"2005-09-09"},"entity_type":"gene","entity_name":"NADSYN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31883644"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077","Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["AMCD2B","DA2B","FSSV","DKFZp779M2348"],"biotype":"protein_coding","hgnc_id":"HGNC:11950","gene_name":"troponin T3, fast skeletal type","omim_gene":["600692"],"alias_name":["troponin-T3, skeletal, fast"],"gene_symbol":"TNNT3","hgnc_symbol":"TNNT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1940792-1959936","ensembl_id":"ENSG00000130595"}},"GRch38":{"90":{"location":"11:1919562-1938706","ensembl_id":"ENSG00000130595"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"TNNT3","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":["25337069","32779773","21402185","17194691","19142688","12865991"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, distal, type 2B2, OMIM:618435","Arthrogryposis, distal, type 2B2, MONDO:0032750"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["HEB","HTF4","HsT17266","bHLHb20"],"biotype":"protein_coding","hgnc_id":"HGNC:11623","gene_name":"transcription factor 12","omim_gene":["600480"],"alias_name":["helix-loop-helix transcription factor 4"],"gene_symbol":"TCF12","hgnc_symbol":"TCF12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:57210821-57591479","ensembl_id":"ENSG00000140262"}},"GRch38":{"90":{"location":"15:56918623-57299281","ensembl_id":"ENSG00000140262"}}},"hgnc_date_symbol_changed":"1994-06-17"},"entity_type":"gene","entity_name":"TCF12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23354436"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Craniosynostosis 3, MIM# 615314"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["DOM","WS4","WS2E"],"biotype":"protein_coding","hgnc_id":"HGNC:11190","gene_name":"SRY-box 10","omim_gene":["602229"],"alias_name":["dominant megacolon, mouse, human homolog of"],"gene_symbol":"SOX10","hgnc_symbol":"SOX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38366693-38383429","ensembl_id":"ENSG00000100146"}},"GRch38":{"90":{"location":"22:37970686-37987422","ensembl_id":"ENSG00000100146"}}},"hgnc_date_symbol_changed":"1998-01-22"},"entity_type":"gene","entity_name":"SOX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["PCWH syndrome (MIM#609136)","Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584)","Waardenburg syndrome, type 4C (MIM#613266)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["FREAC3","ARA","IGDA","IHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:3800","gene_name":"forkhead box C1","omim_gene":["601090"],"alias_name":null,"gene_symbol":"FOXC1","hgnc_symbol":"FOXC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1610681-1614127","ensembl_id":"ENSG00000054598"}},"GRch38":{"90":{"location":"6:1609972-1613897","ensembl_id":"ENSG00000054598"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32720677","30255586"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Axenfeld-Rieger syndrome, type 3, MIM# 602482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["bHLHd4","bHLHd5","bHLHd6","bHLHd7","bHLHd8"],"biotype":"protein_coding","hgnc_id":"HGNC:6913","gene_name":"MYC associated factor X","omim_gene":["154950"],"alias_name":null,"gene_symbol":"MAX","hgnc_symbol":"MAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:65472892-65569413","ensembl_id":"ENSG00000125952"}},"GRch38":{"90":{"location":"14:65006174-65102695","ensembl_id":"ENSG00000125952"}}},"hgnc_date_symbol_changed":"1992-10-27"},"entity_type":"gene","entity_name":"MAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38141607"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polydactyly-macrocephaly syndrome, MIM# 620712"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["bA51G5.2"],"biotype":"protein_coding","hgnc_id":"HGNC:21232","gene_name":"melanocortin 2 receptor accessory protein 2","omim_gene":["615410"],"alias_name":null,"gene_symbol":"MRAP2","hgnc_symbol":"MRAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:84743475-84800600","ensembl_id":"ENSG00000135324"}},"GRch38":{"90":{"location":"6:84033756-84090881","ensembl_id":"ENSG00000135324"}}},"hgnc_date_symbol_changed":"2008-07-16"},"entity_type":"gene","entity_name":"MRAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["40822950","39574659","37888144","33026327","31700171","29704154","27474872"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Susceptibility to obesity, MIM#615457"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.32","version_created":"2026-04-20T20:39:13.285624+10:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["DWF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3497","gene_name":"EvC ciliary complex subunit 1","omim_gene":["604831"],"alias_name":null,"gene_symbol":"EVC","hgnc_symbol":"EVC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5712924-5830772","ensembl_id":"ENSG00000072840"}},"GRch38":{"90":{"location":"4:5711197-5814305","ensembl_id":"ENSG00000072840"}}},"hgnc_date_symbol_changed":"1995-04-24"},"entity_type":"gene","entity_name":"EVC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23220543"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ellis-van Creveld syndrome, 225500 (3)"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["GPRC1A","mGlu1","MGLUR1","PPP1R85"],"biotype":"protein_coding","hgnc_id":"HGNC:4593","gene_name":"glutamate metabotropic receptor 1","omim_gene":["604473"],"alias_name":["protein phosphatase 1, regulatory subunit 85"],"gene_symbol":"GRM1","hgnc_symbol":"GRM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:146348782-146758734","ensembl_id":"ENSG00000152822"}},"GRch38":{"90":{"location":"6:146027646-146437598","ensembl_id":"ENSG00000152822"}}},"hgnc_date_symbol_changed":"1993-10-21"},"entity_type":"gene","entity_name":"GRM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22901947","26308914","31319223"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["CORDX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10295","gene_name":"retinitis pigmentosa GTPase regulator","omim_gene":["312610"],"alias_name":null,"gene_symbol":"RPGR","hgnc_symbol":"RPGR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:38128416-38186817","ensembl_id":"ENSG00000156313"}},"GRch38":{"90":{"location":"X:38269163-38327564","ensembl_id":"ENSG00000156313"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"RPGR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12657579","30193314"],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 3 (MIM#300029)"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7613","gene_name":"myomesin 1","omim_gene":["603508"],"alias_name":["skelemin"],"gene_symbol":"MYOM1","hgnc_symbol":"MYOM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:3066805-3220106","ensembl_id":"ENSG00000101605"}},"GRch38":{"90":{"location":"18:3066807-3220108","ensembl_id":"ENSG00000101605"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"MYOM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Cardiomyopathy, hypertrophic"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":["RTA1A","CD233","FR","SW","WR"],"biotype":"protein_coding","hgnc_id":"HGNC:11027","gene_name":"solute carrier family 4 member 1 (Diego blood group)","omim_gene":["109270"],"alias_name":["Froese blood group","Swann blood group","Wright blood group"],"gene_symbol":"SLC4A1","hgnc_symbol":"SLC4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42325753-42345509","ensembl_id":"ENSG00000004939"}},"GRch38":{"90":{"location":"17:44248385-44268141","ensembl_id":"ENSG00000004939"}}},"hgnc_date_symbol_changed":"1988-04-20"},"entity_type":"gene","entity_name":"SLC4A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31600044"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","renal"],"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":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34341520","31269546"],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Achondroplasia MONDO:0007037"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","treatable","clinical trial","skeletal"],"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":["DKFZP434K046"],"biotype":"protein_coding","hgnc_id":"HGNC:25302","gene_name":"coenzyme Q9","omim_gene":["612837"],"alias_name":null,"gene_symbol":"COQ9","hgnc_symbol":"COQ9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57481337-57495187","ensembl_id":"ENSG00000088682"}},"GRch38":{"90":{"location":"16:57447425-57461275","ensembl_id":"ENSG00000088682"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"gene","entity_name":"COQ9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Coenzyme Q10 deficiency, primary, 5\t, MIM#614654"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review"],"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:987","gene_name":"branched chain keto acid dehydrogenase E1 subunit beta","omim_gene":["248611"],"alias_name":["maple syrup urine disease","2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"],"gene_symbol":"BCKDHB","hgnc_symbol":"BCKDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80816364-81055987","ensembl_id":"ENSG00000083123"}},"GRch38":{"90":{"location":"6:80106647-80346270","ensembl_id":"ENSG00000083123"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Maple syrup urine disease, type Ib, MIM# 248600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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:461","gene_name":"amelogenin, X-linked","omim_gene":["300391"],"alias_name":["amelogenesis imperfecta 1"],"gene_symbol":"AMELX","hgnc_symbol":"AMELX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:11311533-11318881","ensembl_id":"ENSG00000125363"}},"GRch38":{"90":{"location":"X:11293413-11300761","ensembl_id":"ENSG00000125363"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"AMELX","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Amelogenesis imperfecta, type 1E, MIM# 301200"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"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":["FALDH"],"biotype":"protein_coding","hgnc_id":"HGNC:403","gene_name":"aldehyde dehydrogenase 3 family member A2","omim_gene":["609523"],"alias_name":["fatty aldehyde dehydrogenase"],"gene_symbol":"ALDH3A2","hgnc_symbol":"ALDH3A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:19551449-19580911","ensembl_id":"ENSG00000072210"}},"GRch38":{"90":{"location":"17:19648136-19677598","ensembl_id":"ENSG00000072210"}}},"hgnc_date_symbol_changed":"1996-06-14"},"entity_type":"gene","entity_name":"ALDH3A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Sjogren-Larsson syndrome MIM#270200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["ST3GalV","SIATGM3S"],"biotype":"protein_coding","hgnc_id":"HGNC:10872","gene_name":"ST3 beta-galactoside alpha-2,3-sialyltransferase 5","omim_gene":["604402"],"alias_name":null,"gene_symbol":"ST3GAL5","hgnc_symbol":"ST3GAL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86066267-86116137","ensembl_id":"ENSG00000115525"}},"GRch38":{"90":{"location":"2:85837120-85905199","ensembl_id":"ENSG00000115525"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"ST3GAL5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Amish infantile epilepsy syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["JNCL","BTN1"],"biotype":"protein_coding","hgnc_id":"HGNC:2074","gene_name":"CLN3, battenin","omim_gene":["607042"],"alias_name":["juvenile neuronal ceroid lipofuscinosis"],"gene_symbol":"CLN3","hgnc_symbol":"CLN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28477983-28506896","ensembl_id":"ENSG00000188603"}},"GRch38":{"90":{"location":"16:28474111-28495575","ensembl_id":"ENSG00000188603"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"CLN3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["7553855","9004140","9311735","31926949"],"evidence":["Expert Review Amber","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 3, MIM# 204200","MONDO:0008767"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that 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":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:13666","gene_name":"aladin WD repeat nucleoporin","omim_gene":["605378"],"alias_name":["aladin","Allgrove, triple-A","adracalin"],"gene_symbol":"AAAS","hgnc_symbol":"AAAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:53701240-53718648","ensembl_id":"ENSG00000094914"}},"GRch38":{"90":{"location":"12:53307456-53324864","ensembl_id":"ENSG00000094914"}}},"hgnc_date_symbol_changed":"2000-11-08"},"entity_type":"gene","entity_name":"AAAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Achalasia-addisonianism-alacrimia syndrome, 231550 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that 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":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:19957","gene_name":"tectonin beta-propeller repeat containing 2","omim_gene":["615000"],"alias_name":null,"gene_symbol":"TECPR2","hgnc_symbol":"TECPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102829300-102968818","ensembl_id":"ENSG00000196663"}},"GRch38":{"90":{"location":"14:102362963-102502481","ensembl_id":"ENSG00000196663"}}},"hgnc_date_symbol_changed":"2009-02-27"},"entity_type":"gene","entity_name":"TECPR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176824","35130874","26542466"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that 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":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"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":["FLJ30596","MNADK"],"biotype":"protein_coding","hgnc_id":"HGNC:26404","gene_name":"NAD kinase 2, mitochondrial","omim_gene":["615787"],"alias_name":["mitochondrial NAD kinase"],"gene_symbol":"NADK2","hgnc_symbol":"NADK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36192694-36242381","ensembl_id":"ENSG00000152620"}},"GRch38":{"90":{"location":"5:36192592-36242279","ensembl_id":"ENSG00000152620"}}},"hgnc_date_symbol_changed":"2013-04-30"},"entity_type":"gene","entity_name":"NADK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24847004, 27940755, 23212377, 28923496, 29388319"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of niacin and NAD metabolism","2,4-dienoyl-CoA reductase deficiency, MIM# 616034"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNPCC","FCC2","HNPCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:7127","gene_name":"mutL homolog 1","omim_gene":["120436"],"alias_name":null,"gene_symbol":"MLH1","hgnc_symbol":"MLH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:37034823-37107380","ensembl_id":"ENSG00000076242"}},"GRch38":{"90":{"location":"3:36993332-37050918","ensembl_id":"ENSG00000076242"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"MLH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Prostate cancer, MONDO:0008315","Lynch syndrome 2, MONDO:0012249","Mismatch repair cancer syndrome 1, MONDO:0010159","Lynch syndrome 2, MIM#609310","Mismatch repair cancer syndrome 1, MIM#276300"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4372,"hash_id":null,"name":"Prostate Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\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 prostate cancer 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":"1.1","version_created":"2024-11-01T16:34:57.086516+11:00","relevant_disorders":[],"stats":{"number_of_genes":12,"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":["ETB"],"biotype":"protein_coding","hgnc_id":"HGNC:3180","gene_name":"endothelin receptor type B","omim_gene":["131244"],"alias_name":null,"gene_symbol":"EDNRB","hgnc_symbol":"EDNRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:78469616-78493903","ensembl_id":"ENSG00000136160"}},"GRch38":{"90":{"location":"13:77895481-77919768","ensembl_id":"ENSG00000136160"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"EDNRB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28502583","25852447","21373256","16237557","11773966","11891690","8001158","10528251","10528251","19764031","28236341"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Waardenburg syndrome type 4A MONDO:0010192"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MKP-3","PYST1"],"biotype":"protein_coding","hgnc_id":"HGNC:3072","gene_name":"dual specificity phosphatase 6","omim_gene":["602748"],"alias_name":null,"gene_symbol":"DUSP6","hgnc_symbol":"DUSP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89741009-89747048","ensembl_id":"ENSG00000139318"}},"GRch38":{"90":{"location":"12:89347232-89353271","ensembl_id":"ENSG00000139318"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"DUSP6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23643382","32389901","39809967","37108593","33819414"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"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":["B37"],"biotype":"protein_coding","hgnc_id":"HGNC:3033","gene_name":"atrophin 1","omim_gene":["607462"],"alias_name":null,"gene_symbol":"ATN1","hgnc_symbol":"ATN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7033626-7051484","ensembl_id":"ENSG00000111676"}},"GRch38":{"90":{"location":"12:6924463-6942321","ensembl_id":"ENSG00000111676"}}},"hgnc_date_symbol_changed":"2005-03-17"},"entity_type":"str","entity_name":"ATN1_DRPLA_CAG","confidence_level":"3","penetrance":null,"publications":["8136840","8136826","29325606","20301664"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Dentatorubral-pallidoluysian atrophy MIM#125370"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"12","grch37_coordinates":[7045892,7045936],"grch38_coordinates":[6936729,6936773],"normal_repeats":35,"pathogenic_repeats":48,"tags":["adult-onset","paediatric-onset"],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. 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":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}