{"count":36079,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=168","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=166","results":[{"gene_data":{"alias":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23359570","23877401","23359570","23217742"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM# 615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. 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It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.249","version_created":"2026-04-23T20:41:39.653354+10:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSPGCP"],"biotype":"protein_coding","hgnc_id":"HGNC:319","gene_name":"aggrecan","omim_gene":["155760"],"alias_name":["aggrecan proteoglycan"],"gene_symbol":"ACAN","hgnc_symbol":"ACAN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89346674-89418585","ensembl_id":"ENSG00000157766"}},"GRch38":{"90":{"location":"15:88803443-88875354","ensembl_id":"ENSG00000157766"}}},"hgnc_date_symbol_changed":"2007-02-16"},"entity_type":"gene","entity_name":"ACAN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24762113","27870580","19110214","30124491","28331218","20137779"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813","Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. 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They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.8","version_created":"2026-04-26T17:47:33.973929+10:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"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":["CEV14","Trip230","GMAP-210","GMAP210"],"biotype":"protein_coding","hgnc_id":"HGNC:12305","gene_name":"thyroid hormone receptor interactor 11","omim_gene":["604505"],"alias_name":["golgi-microtubule-associated-protein of 210 kDa"],"gene_symbol":"TRIP11","hgnc_symbol":"TRIP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92432335-92507240","ensembl_id":"ENSG00000100815"}},"GRch38":{"90":{"location":"14:91965991-92040896","ensembl_id":"ENSG00000100815"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29872333","20089971","30728324","30518689"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.86","version_created":"2026-04-24T16:54:13.705855+10:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"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":["ALR","MLL4","CAGL114"],"biotype":"protein_coding","hgnc_id":"HGNC:7133","gene_name":"lysine methyltransferase 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diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.","status":"public","version":"1.18","version_created":"2025-11-21T16:59:26.431729+11:00","relevant_disorders":["Congenital diaphragmatic hernia HP:0000776"],"stats":{"number_of_genes":49,"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":["Hsal1","ZNF794"],"biotype":"protein_coding","hgnc_id":"HGNC:10524","gene_name":"spalt like transcription factor 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disease.","status":"public","version":"0.535","version_created":"2026-04-21T11:25:32.018166+10:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":254,"number_of_strs":1,"number_of_regions":10},"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":["CMH10"],"biotype":"protein_coding","hgnc_id":"HGNC:7583","gene_name":"myosin light chain 2","omim_gene":["160781"],"alias_name":["cardiac ventricular myosin light chain 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conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"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:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","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":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30838783","27475004"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Neu-Laxova syndrome 2, MIM#\t616038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. 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Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6492","gene_name":"laminin subunit gamma 1","omim_gene":["150290"],"alias_name":null,"gene_symbol":"LAMC1","hgnc_symbol":"LAMC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182992595-183114727","ensembl_id":"ENSG00000135862"}},"GRch38":{"90":{"location":"1:183023460-183145592","ensembl_id":"ENSG00000135862"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LAMC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. 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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":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["DKFZp761N0624"],"biotype":"protein_coding","hgnc_id":"HGNC:20651","gene_name":"solute carrier family 37 member 3","omim_gene":null,"alias_name":null,"gene_symbol":"SLC37A3","hgnc_symbol":"SLC37A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:139993493-140104233","ensembl_id":"ENSG00000157800"}},"GRch38":{"90":{"location":"7:140293693-140404433","ensembl_id":"ENSG00000157800"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SLC37A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28041643","35486108"],"evidence":["Expert Review Green","Literature"],"phenotypes":["retinitis pigmentosa, MONDO:0019200"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["FLJ34238","KIAA0716"],"biotype":"protein_coding","hgnc_id":"HGNC:19192","gene_name":"dedicator of cytokinesis 4","omim_gene":["607679"],"alias_name":null,"gene_symbol":"DOCK4","hgnc_symbol":"DOCK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:111366166-111846466","ensembl_id":"ENSG00000128512"}},"GRch38":{"90":{"location":"7:111726110-112206411","ensembl_id":"ENSG00000128512"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38526744"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, DOCK4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["MCD","hMCD"],"biotype":"protein_coding","hgnc_id":"HGNC:7150","gene_name":"malonyl-CoA decarboxylase","omim_gene":["606761"],"alias_name":null,"gene_symbol":"MLYCD","hgnc_symbol":"MLYCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:83932731-83949787","ensembl_id":"ENSG00000103150"}},"GRch38":{"90":{"location":"16:83899126-83927026","ensembl_id":"ENSG00000103150"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"MLYCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12955715"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Malonyl-CoA decarboxylase deficiency, MIM# 248360"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["JM2","XPID","AIID","PIDX","DIETER","SCURFIN"],"biotype":"protein_coding","hgnc_id":"HGNC:6106","gene_name":"forkhead box P3","omim_gene":["300292"],"alias_name":null,"gene_symbol":"FOXP3","hgnc_symbol":"FOXP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49106897-49121288","ensembl_id":"ENSG00000049768"}},"GRch38":{"90":{"location":"X:49250436-49264826","ensembl_id":"ENSG00000049768"}}},"hgnc_date_symbol_changed":"2002-09-20"},"entity_type":"gene","entity_name":"FOXP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11295725","11137993","33668198","33614561","33330291","32234571"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["FLJ23458"],"biotype":"protein_coding","hgnc_id":"HGNC:31690","gene_name":"chromosome 18 open reading frame 32","omim_gene":null,"alias_name":null,"gene_symbol":"C18orf32","hgnc_symbol":"C18orf32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:47008028-47013622","ensembl_id":"ENSG00000177576"}},"GRch38":{"90":{"location":"18:49477250-49487252","ensembl_id":"ENSG00000177576"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"C18orf32","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:35107634"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), C18orf32-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["C-NAP1"],"biotype":"protein_coding","hgnc_id":"HGNC:1859","gene_name":"centrosomal protein 250","omim_gene":["609689"],"alias_name":null,"gene_symbol":"CEP250","hgnc_symbol":"CEP250","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34042985-34099804","ensembl_id":"ENSG00000126001"}},"GRch38":{"90":{"location":"20:35455164-35519280","ensembl_id":"ENSG00000126001"}}},"hgnc_date_symbol_changed":"2006-01-11"},"entity_type":"gene","entity_name":"CEP250","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24780881","29718797","30459346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cone-rod dystrophy and hearing loss 2, MIM# 618358"],"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":"1.4796","version_created":"2026-04-26T17:41:46.661582+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":["NOV","QM","DXS648E","DXS648","FLJ23544","L10"],"biotype":"protein_coding","hgnc_id":"HGNC:10298","gene_name":"ribosomal protein L10","omim_gene":["312173"],"alias_name":null,"gene_symbol":"RPL10","hgnc_symbol":"RPL10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153618315-153637504","ensembl_id":"ENSG00000147403"}},"GRch38":{"90":{"location":"X:154389955-154409168","ensembl_id":"ENSG00000147403"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25316788","25846674","26290468"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mental retardation, X-linked, syndromic, 35, MIM#\t300998"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.428","version_created":"2026-04-26T12:52:13.066925+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4023","gene_name":"FMR1 autosomal homolog 1","omim_gene":["600819"],"alias_name":null,"gene_symbol":"FXR1","hgnc_symbol":"FXR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180585929-180700541","ensembl_id":"ENSG00000114416"}},"GRch38":{"90":{"location":"3:180868141-180982753","ensembl_id":"ENSG00000114416"}}},"hgnc_date_symbol_changed":"1999-04-16"},"entity_type":"gene","entity_name":"FXR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30770808","35393337"],"evidence":["Expert Review Green","Other","NHS GMS"],"phenotypes":["Congenital myopathy 9B, proximal, with minicore lesions (MIM#618823","MONDO:0032937)"],"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":["KIAA0862","SOC2","SUR-8","SOC-2","SUR8"],"biotype":"protein_coding","hgnc_id":"HGNC:15454","gene_name":"SHOC2, leucine rich repeat scaffold protein","omim_gene":["602775"],"alias_name":null,"gene_symbol":"SHOC2","hgnc_symbol":"SHOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112679301-112773425","ensembl_id":"ENSG00000108061"}},"GRch38":{"90":{"location":"10:110919547-111013667","ensembl_id":"ENSG00000108061"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SHOC2","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":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSD-95","PSD95","SAP90","SAP-90"],"biotype":"protein_coding","hgnc_id":"HGNC:2903","gene_name":"discs large MAGUK scaffold protein 4","omim_gene":["602887"],"alias_name":null,"gene_symbol":"DLG4","hgnc_symbol":"DLG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7093209-7123021","ensembl_id":"ENSG00000132535"}},"GRch38":{"90":{"location":"17:7189890-7219702","ensembl_id":"ENSG00000132535"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"DLG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33597769"],"evidence":["Expert Review Green","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 62 MIM#618793"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["jdf2","p528","D15F37S1"],"biotype":"protein_coding","hgnc_id":"HGNC:4868","gene_name":"HECT and RLD domain containing E3 ubiquitin protein ligase 2","omim_gene":["605837"],"alias_name":null,"gene_symbol":"HERC2","hgnc_symbol":"HERC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:28356186-28567298","ensembl_id":"ENSG00000128731"}},"GRch38":{"90":{"location":"15:28111040-28322152","ensembl_id":"ENSG00000128731"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"HERC2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["23065719","23243086","30902390","32571899","27848944","26077850","27759030"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal recessive 38 (MIM 615516)"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":["DKFZP564D166","FLJ10215","FLJ11824","KIAA1148","KIAA1636","rols","ROLSA"],"biotype":"protein_coding","hgnc_id":"HGNC:30212","gene_name":"tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2","omim_gene":["615047"],"alias_name":["rolling pebbles homolog B (Drosophila)"],"gene_symbol":"TANC2","hgnc_symbol":"TANC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61086917-61505060","ensembl_id":"ENSG00000170921"}},"GRch38":{"90":{"location":"17:63009556-63427699","ensembl_id":"ENSG00000170921"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"TANC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31616000"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with autistic features and language delay, with or without seizures MIM#618906"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Loeys-Dietz syndrome 2, MIM# 610168"],"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 Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSF1","RING4","D6S114E"],"biotype":"protein_coding","hgnc_id":"HGNC:43","gene_name":"transporter 1, ATP binding cassette subfamily B member","omim_gene":["170260"],"alias_name":null,"gene_symbol":"TAP1","hgnc_symbol":"TAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32812986-32821755","ensembl_id":"ENSG00000168394"}},"GRch38":{"90":{"location":"6:32845209-32853978","ensembl_id":"ENSG00000168394"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"TAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28161407","10074494","1473153"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bare lymphocyte syndrome, type I MIM#604571","Low CD8","absent MHC I on lymphocytes","vasculitis","pyoderma gangrenosum","skin lesions","recurrent respiratory tract infections","bronchiectasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:35123","gene_name":"forkhead box I3","omim_gene":["612351"],"alias_name":null,"gene_symbol":"FOXI3","hgnc_symbol":"FOXI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:88747726-88752131","ensembl_id":"ENSG00000214336"}},"GRch38":{"90":{"location":"2:88446787-88452656","ensembl_id":"ENSG00000214336"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"FOXI3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35987349","31600545"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["thymic dysplasia MONDO:0004195"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TYMSTR","STRL33","BONZO","CD186"],"biotype":"protein_coding","hgnc_id":"HGNC:16647","gene_name":"C-X-C motif chemokine receptor 6","omim_gene":["605163"],"alias_name":null,"gene_symbol":"CXCR6","hgnc_symbol":"CXCR6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45982425-45989845","ensembl_id":"ENSG00000172215"}},"GRch38":{"90":{"location":"3:45940933-45948353","ensembl_id":"ENSG00000172215"}}},"hgnc_date_symbol_changed":"2002-08-23"},"entity_type":"gene","entity_name":"CXCR6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hAGO1"],"biotype":"protein_coding","hgnc_id":"HGNC:3262","gene_name":"argonaute 1, RISC catalytic component","omim_gene":["606228"],"alias_name":["argonaute 1"],"gene_symbol":"AGO1","hgnc_symbol":"AGO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:36335409-36395211","ensembl_id":"ENSG00000092847"}},"GRch38":{"90":{"location":"1:35869808-35930528","ensembl_id":"ENSG00000092847"}}},"hgnc_date_symbol_changed":"2013-02-15"},"entity_type":"gene","entity_name":"AGO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30213762","22495306","23020937","25363768","25356899","27620904","29346770","28135719"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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":"1.760","version_created":"2026-04-26T17:50:23.271073+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":["CNP"],"biotype":"protein_coding","hgnc_id":"HGNC:7941","gene_name":"natriuretic peptide C","omim_gene":["600296"],"alias_name":null,"gene_symbol":"NPPC","hgnc_symbol":"NPPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232786530-232791113","ensembl_id":"ENSG00000163273"}},"GRch38":{"90":{"location":"2:231921820-231926403","ensembl_id":"ENSG00000163273"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"NPPC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11259675"],"evidence":["Expert list","Expert Review Red"],"phenotypes":["Overgrowth syndrome with 2q37 translocations"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.433","version_created":"2026-04-23T20:38:03.561440+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Children's Hospital Neurology Department","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"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":["KIAA0625","AOA2","Sen1"],"biotype":"protein_coding","hgnc_id":"HGNC:445","gene_name":"senataxin","omim_gene":["608465"],"alias_name":null,"gene_symbol":"SETX","hgnc_symbol":"SETX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135136743-135230372","ensembl_id":"ENSG00000107290"}},"GRch38":{"90":{"location":"9:132261356-132354985","ensembl_id":"ENSG00000107290"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"SETX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"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":["SAP-3"],"biotype":"protein_coding","hgnc_id":"HGNC:4367","gene_name":"GM2 ganglioside activator","omim_gene":["613109"],"alias_name":["cerebroside sulfate activator protein","sphingolipid activator protein 3"],"gene_symbol":"GM2A","hgnc_symbol":"GM2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:150591711-150650001","ensembl_id":"ENSG00000196743"}},"GRch38":{"90":{"location":"5:151212150-151270440","ensembl_id":"ENSG00000196743"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GM2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["GM2-gangliosidosis, AB variant, MIM#272750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":"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":["bA387M24.3"],"biotype":"protein_coding","hgnc_id":"HGNC:21624","gene_name":"kinesin light chain 4","omim_gene":null,"alias_name":null,"gene_symbol":"KLC4","hgnc_symbol":"KLC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43008515-43042837","ensembl_id":"ENSG00000137171"}},"GRch38":{"90":{"location":"6:43040777-43075099","ensembl_id":"ENSG00000137171"}}},"hgnc_date_symbol_changed":"2005-09-13"},"entity_type":"gene","entity_name":"KLC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26423925"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF55","c-Cbl"],"biotype":"protein_coding","hgnc_id":"HGNC:1541","gene_name":"Cbl proto-oncogene","omim_gene":["165360"],"alias_name":["oncogene CBL2"],"gene_symbol":"CBL","hgnc_symbol":"CBL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119076752-119178859","ensembl_id":"ENSG00000110395"}},"GRch38":{"90":{"location":"11:119206276-119313926","ensembl_id":"ENSG00000110395"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CBL","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":["19571318","20619386","20543203"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HsT2651","CTS"],"biotype":"protein_coding","hgnc_id":"HGNC:12405","gene_name":"transthyretin","omim_gene":["176300"],"alias_name":null,"gene_symbol":"TTR","hgnc_symbol":"TTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:29171689-29178974","ensembl_id":"ENSG00000118271"}},"GRch38":{"90":{"location":"18:31591726-31599021","ensembl_id":"ENSG00000118271"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14640030","26800456","12771253","30120737","16433699","25069833","30878017","31111153","31118583","28678039","19365058","31131842","8309582","The Metabolic and Molecular Bases of Inherited Disease. Vol. IV. 8th ed.Benson, M. D. Amyloidosis. In: Scriver, C. 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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":["AC","PHP32","FLJ21558","ACDase"],"biotype":"protein_coding","hgnc_id":"HGNC:735","gene_name":"N-acylsphingosine amidohydrolase 1","omim_gene":["613468"],"alias_name":["acylsphingosine deacylase","acid ceramidase"],"gene_symbol":"ASAH1","hgnc_symbol":"ASAH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:17913934-17942494","ensembl_id":"ENSG00000104763"}},"GRch38":{"90":{"location":"8:18055992-18084998","ensembl_id":"ENSG00000104763"}}},"hgnc_date_symbol_changed":"2002-09-13"},"entity_type":"gene","entity_name":"ASAH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Farber lipogranulomatosis, 228000 (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. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:32698","gene_name":"dual oxidase maturation factor 2","omim_gene":["612772"],"alias_name":null,"gene_symbol":"DUOXA2","hgnc_symbol":"DUOXA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45406519-45410619","ensembl_id":"ENSG00000140274"}},"GRch38":{"90":{"location":"15:45114321-45118421","ensembl_id":"ENSG00000140274"}}},"hgnc_date_symbol_changed":"2006-07-25"},"entity_type":"gene","entity_name":"DUOXA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Thyroid dyshormonogenesis 5, MIM# 274900"],"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":["Aralar"],"biotype":"protein_coding","hgnc_id":"HGNC:10982","gene_name":"solute carrier family 25 member 12","omim_gene":["603667"],"alias_name":null,"gene_symbol":"SLC25A12","hgnc_symbol":"SLC25A12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172640880-172864766","ensembl_id":"ENSG00000115840"}},"GRch38":{"90":{"location":"2:171784370-171999859","ensembl_id":"ENSG00000115840"}}},"hgnc_date_symbol_changed":"1999-01-28"},"entity_type":"gene","entity_name":"SLC25A12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hypomyelination, global cerebral"],"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":["SMAD8","SMAD8/9"],"biotype":"protein_coding","hgnc_id":"HGNC:6774","gene_name":"SMAD family member 9","omim_gene":["603295"],"alias_name":null,"gene_symbol":"SMAD9","hgnc_symbol":"SMAD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37418968-37494902","ensembl_id":"ENSG00000120693"}},"GRch38":{"90":{"location":"13:36844831-36920765","ensembl_id":"ENSG00000120693"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Pulmonary arterial hypertension"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:18603","gene_name":"collagen type XXV alpha 1 chain","omim_gene":["610004"],"alias_name":null,"gene_symbol":"COL25A1","hgnc_symbol":"COL25A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:109731877-110223813","ensembl_id":"ENSG00000188517"}},"GRch38":{"90":{"location":"4:108810721-109302657","ensembl_id":"ENSG00000188517"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"COL25A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25500261","26486031","31875546","26437029"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Fibrosis of extraocular muscles, congenital, 5, MIM# 616219"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"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":["FLJ13782","BOM"],"biotype":"protein_coding","hgnc_id":"HGNC:2799","gene_name":"grainyhead like transcription factor 2","omim_gene":["608576"],"alias_name":null,"gene_symbol":"GRHL2","hgnc_symbol":"GRHL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:102504660-102681954","ensembl_id":"ENSG00000083307"}},"GRch38":{"90":{"location":"8:101492432-101669726","ensembl_id":"ENSG00000083307"}}},"hgnc_date_symbol_changed":"2005-07-11"},"entity_type":"gene","entity_name":"GRHL2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29110737"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Fibrosis of extraocular muscles, congenital"],"mode_of_inheritance":"Unknown","tags":["SV/CNV"],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"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":["H_DJ0042M02.9","HNPCC4","MLH4"],"biotype":"protein_coding","hgnc_id":"HGNC:9122","gene_name":"PMS1 homolog 2, mismatch repair system component","omim_gene":["600259"],"alias_name":null,"gene_symbol":"PMS2","hgnc_symbol":"PMS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6012870-6048756","ensembl_id":"ENSG00000122512"}},"GRch38":{"90":{"location":"7:5973239-6009125","ensembl_id":"ENSG00000122512"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"PMS2","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":["RAD10"],"biotype":"protein_coding","hgnc_id":"HGNC:3433","gene_name":"ERCC excision repair 1, endonuclease non-catalytic subunit","omim_gene":["126380"],"alias_name":null,"gene_symbol":"ERCC1","hgnc_symbol":"ERCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45910591-45982086","ensembl_id":"ENSG00000012061"}},"GRch38":{"90":{"location":"19:45407333-45478828","ensembl_id":"ENSG00000012061"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40684071"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hepatorenal syndrome, MONDO:0001382, ERCC1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.104","version_created":"2026-04-26T12:53:45.051003+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TSARG6","RSPH16A"],"biotype":"protein_coding","hgnc_id":"HGNC:30718","gene_name":"DnaJ heat shock protein family (Hsp40) member B13","omim_gene":["610263"],"alias_name":["radial spoke 16 homolog A (Chlamydomonas)"],"gene_symbol":"DNAJB13","hgnc_symbol":"DNAJB13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:73661364-73681411","ensembl_id":"ENSG00000187726"}},"GRch38":{"90":{"location":"11:73950319-73970366","ensembl_id":"ENSG00000187726"}}},"hgnc_date_symbol_changed":"2005-07-01"},"entity_type":"gene","entity_name":"DNAJB13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31342671","27486783"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Primary ciliary dyskinesia"],"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":["Crescerin-1","crescerin"],"biotype":"protein_coding","hgnc_id":"HGNC:19959","gene_name":"TOG array regulator of axonemal microtubules 1","omim_gene":["617618"],"alias_name":["crescerin"],"gene_symbol":"TOGARAM1","hgnc_symbol":"TOGARAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45431411-45543634","ensembl_id":"ENSG00000198718"}},"GRch38":{"90":{"location":"14:44962208-45074431","ensembl_id":"ENSG00000198718"}}},"hgnc_date_symbol_changed":"2017-01-13"},"entity_type":"gene","entity_name":"TOGARAM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32747439"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Joubert syndrome 37, MIM# 619185"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8966","gene_name":"phosphatidylinositol glycan anchor biosynthesis class L","omim_gene":["605947"],"alias_name":["N-acetylglucosaminylphosphatidylinositol deacetylase"],"gene_symbol":"PIGL","hgnc_symbol":"PIGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16120505-16252115","ensembl_id":"ENSG00000108474"}},"GRch38":{"90":{"location":"17:16217191-16351797","ensembl_id":"ENSG00000108474"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22444671","31535386","30023290","29473937","28371479","25706356"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["CHIME syndrome, MIM# 280000, MONDO:0010221"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["KIAA0620"],"biotype":"protein_coding","hgnc_id":"HGNC:9107","gene_name":"plexin D1","omim_gene":["604282"],"alias_name":null,"gene_symbol":"PLXND1","hgnc_symbol":"PLXND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:129274018-129325661","ensembl_id":"ENSG00000004399"}},"GRch38":{"90":{"location":"3:129555175-129606818","ensembl_id":"ENSG00000004399"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"PLXND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35396997"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart defects, multiple types, 9, MIM# 620294"],"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. 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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":["THTR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10938","gene_name":"solute carrier family 19 member 2","omim_gene":["603941"],"alias_name":null,"gene_symbol":"SLC19A2","hgnc_symbol":"SLC19A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169433147-169455241","ensembl_id":"ENSG00000117479"}},"GRch38":{"90":{"location":"1:169463909-169486003","ensembl_id":"ENSG00000117479"}}},"hgnc_date_symbol_changed":"1999-04-09"},"entity_type":"gene","entity_name":"SLC19A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391221","19643445"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Thiamine-responsive megaloblastic anaemia syndrome, MIM#249270"],"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":["OBR","CD295"],"biotype":"protein_coding","hgnc_id":"HGNC:6554","gene_name":"leptin receptor","omim_gene":["601007"],"alias_name":null,"gene_symbol":"LEPR","hgnc_symbol":"LEPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65886248-66107242","ensembl_id":"ENSG00000116678"}},"GRch38":{"90":{"location":"1:65420652-65641559","ensembl_id":"ENSG00000116678"}}},"hgnc_date_symbol_changed":"1996-05-09"},"entity_type":"gene","entity_name":"LEPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33137293"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Obesity, morbid, due to leptin receptor deficiency (MIM#614963)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-92"],"biotype":"protein_coding","hgnc_id":"HGNC:19693","gene_name":"coenzyme Q4","omim_gene":["612898"],"alias_name":null,"gene_symbol":"COQ4","hgnc_symbol":"COQ4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131084815-131096351","ensembl_id":"ENSG00000167113"}},"GRch38":{"90":{"location":"9:128322536-128334072","ensembl_id":"ENSG00000167113"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"COQ4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Coenzyme Q10 deficiency, primary, 7, MIM#\t616276"],"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":["nicein-125kDa","kalinin-140kDa","BM600-125kDa"],"biotype":"protein_coding","hgnc_id":"HGNC:6490","gene_name":"laminin subunit beta 3","omim_gene":["150310"],"alias_name":null,"gene_symbol":"LAMB3","hgnc_symbol":"LAMB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:209788215-209825811","ensembl_id":"ENSG00000196878"}},"GRch38":{"90":{"location":"1:209614870-209652466","ensembl_id":"ENSG00000196878"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"LAMB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Amelogenesis imperfecta, type IA, MIM# 104530","Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700","Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23984232","32298062","34164111"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurofibromatosis type 1 MONDO:0018975"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4093,"hash_id":null,"name":"Facial papules","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with diseases where facial papules and lesions can be a predominant feature of the phenotype, including coarse facies. It was developed by Prof Ingrid Winship from Royal Melbourne Hospital for use in the Genodermatosis clinic.","status":"public","version":"1.1","version_created":"2026-01-12T09:37:15.457047+11:00","relevant_disorders":["Papule HP:0200034"],"stats":{"number_of_genes":22,"number_of_strs":0,"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAD","FAD1","BRCC2","XRCC11"],"biotype":"protein_coding","hgnc_id":"HGNC:1101","gene_name":"BRCA2, DNA repair associated","omim_gene":["600185"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 2"],"gene_symbol":"BRCA2","hgnc_symbol":"BRCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:32889611-32973805","ensembl_id":"ENSG00000139618"}},"GRch38":{"90":{"location":"13:32315474-32400266","ensembl_id":"ENSG00000139618"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"BRCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Soft tissue sarcoma, MONDO:0018078","Sarcoma, MONDO:0005089","BRCA2-related cancer predisposition, MONDO:0700269","Breast-ovarian cancer, familial, 2, MIM#612555"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4358,"hash_id":null,"name":"Sarcoma soft tissue","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with soft tissue sarcoma.\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 soft tissue sarcoma 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":"2026-01-12T09:39:55.152718+11:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20507","FLJ22257"],"biotype":"protein_coding","hgnc_id":"HGNC:26038","gene_name":"transmembrane protein 127","omim_gene":["613403"],"alias_name":null,"gene_symbol":"TMEM127","hgnc_symbol":"TMEM127","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96914254-96931732","ensembl_id":"ENSG00000135956"}},"GRch38":{"90":{"location":"2:96248516-96265994","ensembl_id":"ENSG00000135956"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM127","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Paraganglioma, MONDO:0000448","Pheochromocytoma, MONDO:0008233","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma, susceptibility to, MIM#171300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4365,"hash_id":null,"name":"Paraganglioma_phaeochromocytoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with paraganglioma and phaeochromocytoma. \r\n\r\nFurther information on the testing criteria for paraganglioma and phaeochromocytoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3601-paraganglioma-phaeochromocytoma-panel-testi\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 paraganglioma and phaeochromocytoma 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":"1.2","version_created":"2026-01-12T09:39:17.151164+11:00","relevant_disorders":[],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":1},"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":["CX40"],"biotype":null,"hgnc_id":"HGNC:4279","gene_name":"gap junction protein alpha 5","omim_gene":["121013"],"alias_name":["connexin 40"],"gene_symbol":"GJA5","hgnc_symbol":"GJA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147228332-147245484","ensembl_id":"ENSG00000143140"}},"GRch38":{"90":{"location":"1:147756199-147773362","ensembl_id":"ENSG00000265107"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["9501069","10086977","22247482","36352534"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["heart conduction disease MONDO:0000992"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4422,"hash_id":null,"name":"Cardiac conduction disease","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with cardiac conduction disease, including heart block and abnormal atrioventricular conduction. It contains all the genes associated with Sick sinus syndrome.\r\n\r\nThis panel is based on the PanelApp UK \"Progressive cardiac conduction disease\" panel, with thanks to Genomics England. It is a constituent of the Arrhythmia Superpanel and Adult Cardiac Superpanel.","status":"public","version":"1.6","version_created":"2026-02-19T13:33:52.737749+11:00","relevant_disorders":["Cardiac conduction abnormality","HP:0031546"],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bK268H5"],"biotype":"protein_coding","hgnc_id":"HGNC:11112","gene_name":"structural maintenance of chromosomes 1B","omim_gene":["608685"],"alias_name":null,"gene_symbol":"SMC1B","hgnc_symbol":"SMC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:45739944-45809500","ensembl_id":"ENSG00000077935"}},"GRch38":{"90":{"location":"22:45344063-45413619","ensembl_id":"ENSG00000077935"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40180776","27603904"],"evidence":["Literature","Expert Review Red","Expert Review Red","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, SMC1B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.149","version_created":"2026-04-26T14:05:44.766760+10:00","relevant_disorders":[],"stats":{"number_of_genes":266,"number_of_strs":0,"number_of_regions":1},"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":["CYP11BL","CPN2","P-450C18","P450aldo","ALDOS"],"biotype":"protein_coding","hgnc_id":"HGNC:2592","gene_name":"cytochrome P450 family 11 subfamily B member 2","omim_gene":["124080"],"alias_name":["steroid 11-beta-monooxygenase"],"gene_symbol":"CYP11B2","hgnc_symbol":"CYP11B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:143991975-143999259","ensembl_id":"ENSG00000179142"}},"GRch38":{"90":{"location":"8:142910559-142917843","ensembl_id":"ENSG00000179142"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP11B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8439335","9360501","15240589","9814506","12788848","8772616"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)."],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["WNT-4"],"biotype":"protein_coding","hgnc_id":"HGNC:12783","gene_name":"Wnt family member 4","omim_gene":["603490"],"alias_name":null,"gene_symbol":"WNT4","hgnc_symbol":"WNT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22443798-22470462","ensembl_id":"ENSG00000162552"}},"GRch38":{"90":{"location":"1:22117305-22143969","ensembl_id":"ENSG00000162552"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"WNT4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["18179883"],"evidence":["Expert Review Amber","Expert List"],"phenotypes":["SERKAL syndrome, OMIM #611812"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["GTT1"],"biotype":"protein_coding","hgnc_id":"HGNC:18063","gene_name":"StAR related lipid transfer domain containing 7","omim_gene":["616712"],"alias_name":null,"gene_symbol":"STARD7","hgnc_symbol":"STARD7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96850597-96874563","ensembl_id":"ENSG00000084090"}},"GRch38":{"90":{"location":"2:96184859-96208825","ensembl_id":"ENSG00000084090"}}},"hgnc_date_symbol_changed":"2002-01-24"},"entity_type":"str","entity_name":"STARD7_FAME2_ATTTC","confidence_level":"3","penetrance":null,"publications":["11701600","24114805","31664034"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, familial adult myoclonic, 2 MIM#607876"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTTC","chromosome":"2","grch37_coordinates":[96862805,96862859],"grch38_coordinates":[96197067,96197121],"normal_repeats":0,"pathogenic_repeats":661,"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"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":[]}},{"gene_data":{"alias":["TIP-2","Hs.6454","GIPC","SEMCAP","GLUT1CBP","SYNECTIN","NIP"],"biotype":"protein_coding","hgnc_id":"HGNC:1226","gene_name":"GIPC PDZ domain containing family member 1","omim_gene":["605072"],"alias_name":null,"gene_symbol":"GIPC1","hgnc_symbol":"GIPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14588572-14606944","ensembl_id":"ENSG00000123159"}},"GRch38":{"90":{"location":"19:14477760-14496149","ensembl_id":"ENSG00000123159"}}},"hgnc_date_symbol_changed":"2005-06-28"},"entity_type":"str","entity_name":"GIPC1_OPDM2_CGG","confidence_level":"3","penetrance":null,"publications":["32413282","33374016"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oculopharyngodistal myopathy 2 MIM#618940"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CGG","chromosome":"19","grch37_coordinates":[14606854,14606886],"grch38_coordinates":[14496042,14496074],"normal_repeats":32,"pathogenic_repeats":70,"tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]}}]}