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and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.144","version_created":"2026-04-25T18:31:01.039323+10:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0230","PRG2","MG50","D2S448","D2S448E","PXN"],"biotype":"protein_coding","hgnc_id":"HGNC:14966","gene_name":"peroxidasin","omim_gene":["605158"],"alias_name":null,"gene_symbol":"PXDN","hgnc_symbol":"PXDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1635659-1748624","ensembl_id":"ENSG00000130508"}},"GRch38":{"90":{"location":"2:1631887-1744852","ensembl_id":"ENSG00000130508"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"PXDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21907015","24939590","32499604","32224865","32015378","31817535"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"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"},{"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:12410","gene_name":"tubulin alpha 8","omim_gene":["605742"],"alias_name":null,"gene_symbol":"TUBA8","hgnc_symbol":"TUBA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18593097-18629321","ensembl_id":"ENSG00000183785"}},"GRch38":{"90":{"location":"22:18110331-18146554","ensembl_id":"ENSG00000183785"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"TUBA8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19896110","31481326","28388629"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"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":["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":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564J0863"],"biotype":"protein_coding","hgnc_id":"HGNC:24526","gene_name":"atlastin GTPase 3","omim_gene":["609369"],"alias_name":null,"gene_symbol":"ATL3","hgnc_symbol":"ATL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63391559-63439393","ensembl_id":"ENSG00000184743"}},"GRch38":{"90":{"location":"11:63624087-63671921","ensembl_id":"ENSG00000184743"}}},"hgnc_date_symbol_changed":"2008-09-17"},"entity_type":"gene","entity_name":"ATL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24459106","30666337","30339187","24736309"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, hereditary sensory, type IF, MIM# 615632"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10676","bHLHc5"],"biotype":"protein_coding","hgnc_id":"HGNC:29658","gene_name":"mesoderm posterior bHLH transcription factor 1","omim_gene":["608689"],"alias_name":null,"gene_symbol":"MESP1","hgnc_symbol":"MESP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90291892-90294541","ensembl_id":"ENSG00000166823"}},"GRch38":{"90":{"location":"15:89748661-89751310","ensembl_id":"ENSG00000166823"}}},"hgnc_date_symbol_changed":"2005-10-21"},"entity_type":"gene","entity_name":"MESP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28677747","28050627","27185833","26694203"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Congenital heart disease MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KNS"],"biotype":"protein_coding","hgnc_id":"HGNC:6324","gene_name":"kinesin family member 5B","omim_gene":["602809"],"alias_name":null,"gene_symbol":"KIF5B","hgnc_symbol":"KIF5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:32297938-32345359","ensembl_id":"ENSG00000170759"}},"GRch38":{"90":{"location":"10:32009010-32056431","ensembl_id":"ENSG00000170759"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37934770"],"evidence":["Expert Review Green","Literature"],"phenotypes":["osteogenesis imperfecta, MONDO:0019019"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; 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Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8858","gene_name":"peroxisomal biogenesis factor 3","omim_gene":["603164"],"alias_name":null,"gene_symbol":"PEX3","hgnc_symbol":"PEX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:143771944-143811147","ensembl_id":"ENSG00000034693"}},"GRch38":{"90":{"location":"6:143450807-143490010","ensembl_id":"ENSG00000034693"}}},"hgnc_date_symbol_changed":"1998-10-21"},"entity_type":"gene","entity_name":"PEX3","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":155,"hash_id":null,"name":"Peroxisomal Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2025-12-31T14:23:29.190009+11:00","relevant_disorders":["Peroxisomal disease","MONDO:0019053"],"stats":{"number_of_genes":32,"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":["DFFRX","FAF","MRX99"],"biotype":"protein_coding","hgnc_id":"HGNC:12632","gene_name":"ubiquitin specific peptidase 9, X-linked","omim_gene":["300072"],"alias_name":null,"gene_symbol":"USP9X","hgnc_symbol":"USP9X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40944888-41095832","ensembl_id":"ENSG00000124486"}},"GRch38":{"90":{"location":"X:41085635-41236579","ensembl_id":"ENSG00000124486"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"USP9X","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder 99 MIM#300919","syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"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":["HE4","WAP5","dJ461P17.6","EDDM4"],"biotype":"protein_coding","hgnc_id":"HGNC:15939","gene_name":"WAP four-disulfide core domain 2","omim_gene":["617548"],"alias_name":["epididymal protein 4"],"gene_symbol":"WFDC2","hgnc_symbol":"WFDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44098346-44110172","ensembl_id":"ENSG00000101443"}},"GRch38":{"90":{"location":"20:45469706-45481532","ensembl_id":"ENSG00000101443"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"WFDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38626355"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bronchiectasis and nasal polyposis, MIM# 620984"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP564D116","TECT3","JBTS18"],"biotype":"protein_coding","hgnc_id":"HGNC:24519","gene_name":"tectonic family member 3","omim_gene":["613847"],"alias_name":null,"gene_symbol":"TCTN3","hgnc_symbol":"TCTN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97423158-97453900","ensembl_id":"ENSG00000119977"}},"GRch38":{"90":{"location":"10:95663396-95694143","ensembl_id":"ENSG00000119977"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22883145","32139166","25118024","22883145","34096792"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 18, MIM# 614815","MONDO:0013896","Mohr-Majewski syndrome","Meckel-Gruber syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-REN-55","KIAA1901"],"biotype":"protein_coding","hgnc_id":"HGNC:7744","gene_name":"NIMA related kinase 1","omim_gene":["604588"],"alias_name":null,"gene_symbol":"NEK1","hgnc_symbol":"NEK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:170314426-170533780","ensembl_id":"ENSG00000137601"}},"GRch38":{"90":{"location":"4:169392857-169612629","ensembl_id":"ENSG00000137601"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"NEK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21211617","22499340","25492405","28123176"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0645","DEP.5"],"biotype":"protein_coding","hgnc_id":"HGNC:18423","gene_name":"DEP domain containing 5","omim_gene":["614191"],"alias_name":null,"gene_symbol":"DEPDC5","hgnc_symbol":"DEPDC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32149944-32303012","ensembl_id":"ENSG00000100150"}},"GRch38":{"90":{"location":"22:31753951-31907034","ensembl_id":"ENSG00000100150"}}},"hgnc_date_symbol_changed":"2004-05-05"},"entity_type":"gene","entity_name":"DEPDC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31444548","23542697","23542701"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epilepsy, familial focal, with variable foci 1 MIM#604364","Developmental and epileptic encephalopathy 111, MIM#\t620504"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRES-17","HTCD37","H-PRUNE"],"biotype":"protein_coding","hgnc_id":"HGNC:13420","gene_name":"prune exopolyphosphatase 1","omim_gene":["617413"],"alias_name":null,"gene_symbol":"PRUNE1","hgnc_symbol":"PRUNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150980896-151008189","ensembl_id":"ENSG00000143363"}},"GRch38":{"90":{"location":"1:151008420-151035713","ensembl_id":"ENSG00000143363"}}},"hgnc_date_symbol_changed":"2016-06-06"},"entity_type":"gene","entity_name":"PRUNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28334956","26539891","30556349","29940663","29797509"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.410","version_created":"2026-04-24T13:36:55.078812+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12528"],"biotype":"protein_coding","hgnc_id":"HGNC:30740","gene_name":"threonyl-tRNA synthetase 2, mitochondrial (putative)","omim_gene":["612805"],"alias_name":["threonine tRNA ligase 2, mitochondrial"],"gene_symbol":"TARS2","hgnc_symbol":"TARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150459887-150480078","ensembl_id":"ENSG00000143374"}},"GRch38":{"90":{"location":"1:150487364-150507609","ensembl_id":"ENSG00000143374"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"TARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24827421","26811336","33153448","34508595"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 21, MIM# 615918"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS707","TE2"],"biotype":"protein_coding","hgnc_id":"HGNC:18704","gene_name":"N(alpha)-acetyltransferase 10, NatA catalytic subunit","omim_gene":["300013"],"alias_name":null,"gene_symbol":"NAA10","hgnc_symbol":"NAA10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153194695-153200676","ensembl_id":"ENSG00000102030"}},"GRch38":{"90":{"location":"X:153929242-153935223","ensembl_id":"ENSG00000102030"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FKHL20"],"biotype":"protein_coding","hgnc_id":"HGNC:12765","gene_name":"forkhead box 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.756","version_created":"2026-04-24T13:54:47.562690+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHED","CDC2L","KIAA1791"],"biotype":"protein_coding","hgnc_id":"HGNC:1733","gene_name":"cyclin dependent kinase 13","omim_gene":["603309"],"alias_name":["cholinesterase-related cell division controller"],"gene_symbol":"CDK13","hgnc_symbol":"CDK13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39989636-40136733","ensembl_id":"ENSG00000065883"}},"GRch38":{"90":{"location":"7:39950037-40097134","ensembl_id":"ENSG00000065883"}}},"hgnc_date_symbol_changed":"2009-12-16"},"entity_type":"gene","entity_name":"CDK13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29021403","29393965","30904094"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360"],"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. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.756","version_created":"2026-04-24T13:54:47.562690+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARPKD","FCYT","FPC"],"biotype":"protein_coding","hgnc_id":"HGNC:9016","gene_name":"PKHD1, fibrocystin/polyductin","omim_gene":["606702"],"alias_name":["tigmin","polyductin","fibrocystin","fibrocystin/polyductin complex"],"gene_symbol":"PKHD1","hgnc_symbol":"PKHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:51480098-51952423","ensembl_id":"ENSG00000170927"}},"GRch38":{"90":{"location":"6:51615300-52087625","ensembl_id":"ENSG00000170927"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"PKHD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Emory Genetics Laboratory","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"","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":["ATLD"],"biotype":"protein_coding","hgnc_id":"HGNC:7230","gene_name":"MRE11 homolog, double strand break repair nuclease","omim_gene":["600814"],"alias_name":["AT-like disease"],"gene_symbol":"MRE11","hgnc_symbol":"MRE11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:94152895-94227074","ensembl_id":"ENSG00000020922"}},"GRch38":{"90":{"location":"11:94415578-94493908","ensembl_id":"ENSG00000020922"}}},"hgnc_date_symbol_changed":"2016-09-30"},"entity_type":"gene","entity_name":"MRE11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ataxia-Telangiectasia-Like Disorder","Ataxia-telangiectasia-like disorder 1, 604391"],"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":null},{"gene_data":{"alias":["GTL3","fSAP23"],"biotype":"protein_coding","hgnc_id":"HGNC:29523","gene_name":"cilia and flagella associated protein 20","omim_gene":null,"alias_name":["functional spliceosome-associated protein 23","flagellar associated protein 20 homolog (Chlamydomonas)"],"gene_symbol":"CFAP20","hgnc_symbol":"CFAP20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58147496-58163354","ensembl_id":"ENSG00000070761"}},"GRch38":{"90":{"location":"16:58113588-58129450","ensembl_id":"ENSG00000070761"}}},"hgnc_date_symbol_changed":"2014-07-03"},"entity_type":"gene","entity_name":"CFAP20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:36329026"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Retinitis pigmentosa (MONDO:0019200), CFAP20-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.246","version_created":"2026-04-24T16:58:06.901564+10:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRCTNNB1A","HCC","HYCC1","hyccin"],"biotype":"protein_coding","hgnc_id":"HGNC:24587","gene_name":"family with sequence similarity 126 member A","omim_gene":["610531"],"alias_name":["down regulated by Ctnnb1, a"],"gene_symbol":"FAM126A","hgnc_symbol":"FAM126A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:22980878-23053749","ensembl_id":"ENSG00000122591"}},"GRch38":{"90":{"location":"7:22889371-23014130","ensembl_id":"ENSG00000122591"}}},"hgnc_date_symbol_changed":"2006-09-06"},"entity_type":"gene","entity_name":"FAM126A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Hypomyelination and Congenital Cataract","Leukodystrophy, hypomyelinating, 5, 610532"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33302"],"biotype":"protein_coding","hgnc_id":"HGNC:28486","gene_name":"major facilitator superfamily domain containing 8","omim_gene":["611124"],"alias_name":null,"gene_symbol":"MFSD8","hgnc_symbol":"MFSD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:128838960-128887150","ensembl_id":"ENSG00000164073"}},"GRch38":{"90":{"location":"4:127917732-127966034","ensembl_id":"ENSG00000164073"}}},"hgnc_date_symbol_changed":"2007-02-19"},"entity_type":"gene","entity_name":"MFSD8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 7, 610951","Macular dystrophy with central cone involvement, 616170"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":303,"hash_id":null,"name":"Macular Dystrophy/Stargardt Disease","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause macular dystrophy and Stargardt disease. It is maintained by the Royal Melbourne Hospital for use in the ocular genetics clinic. It is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.60","version_created":"2026-03-31T16:05:02.510211+11:00","relevant_disorders":["Macular dystrophy","HP:0007754"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACP33","GL010","BM-019","MAST"],"biotype":"protein_coding","hgnc_id":"HGNC:20373","gene_name":"SPG21, maspardin","omim_gene":["608181"],"alias_name":null,"gene_symbol":"SPG21","hgnc_symbol":"SPG21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65255362-65282648","ensembl_id":"ENSG00000090487"}},"GRch38":{"90":{"location":"15:64963021-64990310","ensembl_id":"ENSG00000090487"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"SPG21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14564668","24451228","28752238","26978163"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Mast syndrome, 248900","Spastic Paraplegia, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["DKFZp762G094","FLJ22028"],"biotype":"protein_coding","hgnc_id":"HGNC:26162","gene_name":"pyridine nucleotide-disulphide oxidoreductase domain 1","omim_gene":["617220"],"alias_name":null,"gene_symbol":"PYROXD1","hgnc_symbol":"PYROXD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21590549-21623300","ensembl_id":"ENSG00000121350"}},"GRch38":{"90":{"location":"12:21437615-21471252","ensembl_id":"ENSG00000121350"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"PYROXD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30345904","30515627","27745833"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Myopathy, myofibrillar, 8, 617258","adult-onset limb girdle muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761P0710","KIAA0686","FEB4","VLGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:17416","gene_name":"adhesion G protein-coupled receptor V1","omim_gene":["602851"],"alias_name":null,"gene_symbol":"ADGRV1","hgnc_symbol":"ADGRV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:89825161-90460038","ensembl_id":"ENSG00000164199"}},"GRch38":{"90":{"location":"5:90529344-91164437","ensembl_id":"ENSG00000164199"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22147658","25572244","14740321"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Usher syndrome,  type 2C, MIM# 605472"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3086,"hash_id":null,"name":"Usher Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"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":"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":["PRR","PRR1","PVRR1","SK-12","HIgR","CLPED1","CD111","OFC7"],"biotype":"protein_coding","hgnc_id":"HGNC:9706","gene_name":"nectin cell adhesion molecule 1","omim_gene":["600644"],"alias_name":["nectin"],"gene_symbol":"NECTIN1","hgnc_symbol":"NECTIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119494120-119599794","ensembl_id":"ENSG00000110400"}},"GRch38":{"90":{"location":"11:119623408-119729084","ensembl_id":"ENSG00000110400"}}},"hgnc_date_symbol_changed":"2016-02-12"},"entity_type":"gene","entity_name":"NECTIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25913853"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["RetNet","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AHD","AWS","HJ1","CD339"],"biotype":"protein_coding","hgnc_id":"HGNC:6188","gene_name":"jagged 1","omim_gene":["601920"],"alias_name":null,"gene_symbol":"JAG1","hgnc_symbol":"JAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10618332-10654694","ensembl_id":"ENSG00000101384"}},"GRch38":{"90":{"location":"20:10637684-10674107","ensembl_id":"ENSG00000101384"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"JAG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31273345"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Familial exudative vitreoretinopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3113,"hash_id":null,"name":"Vitreoretinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"1.9","version_created":"2025-09-25T12:27:18.666129+10:00","relevant_disorders":["Abnormal posterior eye segment morphology","HP:0004329"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2084","gene_name":"caseinolytic mitochondrial matrix peptidase proteolytic subunit","omim_gene":["601119"],"alias_name":["ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"],"gene_symbol":"CLPP","hgnc_symbol":"CLPP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6361463-6368919","ensembl_id":"ENSG00000125656"}},"GRch38":{"90":{"location":"19:6361452-6368908","ensembl_id":"ENSG00000125656"}}},"hgnc_date_symbol_changed":"1999-09-20"},"entity_type":"gene","entity_name":"CLPP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Perrault syndrome 3, 614129 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GlcAT-I"],"biotype":"protein_coding","hgnc_id":"HGNC:923","gene_name":"beta-1,3-glucuronyltransferase 3","omim_gene":["606374"],"alias_name":["glucuronosyltransferase I","galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"],"gene_symbol":"B3GAT3","hgnc_symbol":"B3GAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62382768-62389647","ensembl_id":"ENSG00000149541"}},"GRch38":{"90":{"location":"11:62615296-62622175","ensembl_id":"ENSG00000149541"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"B3GAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNB2B"],"biotype":"protein_coding","hgnc_id":"HGNC:1386","gene_name":"calcium binding protein 4","omim_gene":["608965"],"alias_name":null,"gene_symbol":"CABP4","hgnc_symbol":"CABP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67219877-67226699","ensembl_id":"ENSG00000175544"}},"GRch38":{"90":{"location":"11:67452406-67460313","ensembl_id":"ENSG00000175544"}}},"hgnc_date_symbol_changed":"2000-08-31"},"entity_type":"gene","entity_name":"CABP4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DP1L1","FLJ25383","Yip2f"],"biotype":"protein_coding","hgnc_id":"HGNC:30078","gene_name":"receptor accessory protein 6","omim_gene":["609346"],"alias_name":["polyposis locus protein 1-like 1","deleted in polyposis 1-like 1"],"gene_symbol":"REEP6","hgnc_symbol":"REEP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1491165-1497926","ensembl_id":"ENSG00000115255"}},"GRch38":{"90":{"location":"19:1490747-1497927","ensembl_id":"ENSG00000115255"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"REEP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 77, 617304 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-CO-8","CCCAP","SLSN7","NPHP10","BBS16"],"biotype":"protein_coding","hgnc_id":"HGNC:10671","gene_name":"serologically defined colon cancer antigen 8","omim_gene":["613524"],"alias_name":["centrosomal colon cancer autoantigen protein","Bardet-Biedl syndrome 16","nephrocystin 10","Senior-Loken syndrome 7"],"gene_symbol":"SDCCAG8","hgnc_symbol":"SDCCAG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:243419320-243663394","ensembl_id":"ENSG00000054282"}},"GRch38":{"90":{"location":"1:243256034-243500092","ensembl_id":"ENSG00000054282"}}},"hgnc_date_symbol_changed":"1999-08-25"},"entity_type":"gene","entity_name":"SDCCAG8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 16, 615993 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC33662"],"biotype":"protein_coding","hgnc_id":"HGNC:28510","gene_name":"GLIS family zinc finger 3","omim_gene":["610192"],"alias_name":null,"gene_symbol":"GLIS3","hgnc_symbol":"GLIS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}},"GRch38":{"90":{"location":"9:3824127-4348392","ensembl_id":"ENSG00000107249"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GLIS3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Diabetes mellitus, neonatal, with congenital hypothyroidism"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4819","gene_name":"hyaluronan synthase 2","omim_gene":["601636"],"alias_name":null,"gene_symbol":"HAS2","hgnc_symbol":"HAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:122624356-122653630","ensembl_id":"ENSG00000170961"}},"GRch38":{"90":{"location":"8:121612116-121641390","ensembl_id":"ENSG00000170961"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"HAS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart disease"],"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":["GDH"],"biotype":"protein_coding","hgnc_id":"HGNC:4335","gene_name":"glutamate dehydrogenase 1","omim_gene":["138130"],"alias_name":null,"gene_symbol":"GLUD1","hgnc_symbol":"GLUD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88810243-88854623","ensembl_id":"ENSG00000148672"}},"GRch38":{"90":{"location":"10:87050486-87094866","ensembl_id":"ENSG00000148672"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GLUD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyperinsulinism"],"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":["PKCI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4912","gene_name":"histidine triad nucleotide binding protein 1","omim_gene":["601314"],"alias_name":null,"gene_symbol":"HINT1","hgnc_symbol":"HINT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:130494720-130507428","ensembl_id":"ENSG00000169567"}},"GRch38":{"90":{"location":"5:131159027-131171735","ensembl_id":"ENSG00000169567"}}},"hgnc_date_symbol_changed":"2002-03-08"},"entity_type":"gene","entity_name":"HINT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Axonal neuropathy with neuromyotonia"],"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. 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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":["FLJ00118","FLJ13070","DNAJC5A"],"biotype":"protein_coding","hgnc_id":"HGNC:16235","gene_name":"DnaJ heat shock protein family (Hsp40) member C5","omim_gene":["611203"],"alias_name":null,"gene_symbol":"DNAJC5","hgnc_symbol":"DNAJC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62526518-62567384","ensembl_id":"ENSG00000101152"}},"GRch38":{"90":{"location":"20:63895182-63936031","ensembl_id":"ENSG00000101152"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"DNAJC5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Neuronal ceroid lipofuscinosis, adult-onset"],"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. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:746","gene_name":"argininosuccinate lyase","omim_gene":["608310"],"alias_name":null,"gene_symbol":"ASL","hgnc_symbol":"ASL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:65540785-65558545","ensembl_id":"ENSG00000126522"}},"GRch38":{"90":{"location":"7:66075798-66093558","ensembl_id":"ENSG00000126522"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2263616","12384776"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Expert list","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Argininosuccinic aciduria MIM#207900","Urea cycle disorders and inherited hyperammonaemias","disorder of amino acid metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","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":[]},{"gene_data":{"alias":["KIAA0316"],"biotype":"protein_coding","hgnc_id":"HGNC:29007","gene_name":"FERM and PDZ domain containing 4","omim_gene":["300838"],"alias_name":null,"gene_symbol":"FRMPD4","hgnc_symbol":"FRMPD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:12156585-12742642","ensembl_id":"ENSG00000169933"}},"GRch38":{"90":{"location":"X:12138466-12724523","ensembl_id":"ENSG00000169933"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"FRMPD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25644381","29267967"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Intellectual Disability, X-linked 104, MIM#300983"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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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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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It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10375","MGC47890","SCAR10"],"biotype":"protein_coding","hgnc_id":"HGNC:25519","gene_name":"anoctamin 10","omim_gene":["613726"],"alias_name":null,"gene_symbol":"ANO10","hgnc_symbol":"ANO10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:43396351-43733086","ensembl_id":"ENSG00000160746"}},"GRch38":{"90":{"location":"3:43354859-43691594","ensembl_id":"ENSG00000160746"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 10, MIM#613728"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C2TA","NLRA"],"biotype":"protein_coding","hgnc_id":"HGNC:7067","gene_name":"class II major histocompatibility complex transactivator","omim_gene":["600005"],"alias_name":["NLR family, acid domain containing","nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"],"gene_symbol":"CIITA","hgnc_symbol":"CIITA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:10971055-11026079","ensembl_id":"ENSG00000179583"}},"GRch38":{"90":{"location":"16:10866222-10932281","ensembl_id":"ENSG00000179583"}}},"hgnc_date_symbol_changed":"2005-08-12"},"entity_type":"gene","entity_name":"CIITA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"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":[]},{"gene_data":{"alias":["ZO-2","X104","ZO2"],"biotype":"protein_coding","hgnc_id":"HGNC:11828","gene_name":"tight junction protein 2","omim_gene":["607709"],"alias_name":["Friedreich ataxia region gene X104 (tight junction protein ZO-2)","zona occludens 2"],"gene_symbol":"TJP2","hgnc_symbol":"TJP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:71736209-71870124","ensembl_id":"ENSG00000119139"}},"GRch38":{"90":{"location":"9:69121264-69255208","ensembl_id":"ENSG00000119139"}}},"hgnc_date_symbol_changed":"1999-07-01"},"entity_type":"gene","entity_name":"TJP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hypercholanemia, familial"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3680","gene_name":"fibroblast growth factor 23","omim_gene":["605380"],"alias_name":null,"gene_symbol":"FGF23","hgnc_symbol":"FGF23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4477393-4488894","ensembl_id":"ENSG00000118972"}},"GRch38":{"90":{"location":"12:4368227-4379728","ensembl_id":"ENSG00000118972"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"FGF23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25378588","34444516","16151858","16030159","15590700","11062477","14966565"],"evidence":["Expert Review Green","KidGen_CalcPhos v38.1.0","Expert Review Green"],"phenotypes":["autosomal dominant hypophosphatemic rickets MONDO:0008660","familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"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"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal dominant 1, MIM# 607634"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTP1","IREG1","FPN1","HFE4"],"biotype":"protein_coding","hgnc_id":"HGNC:10909","gene_name":"solute carrier family 40 member 1","omim_gene":["604653"],"alias_name":["ferroportin 1"],"gene_symbol":"SLC40A1","hgnc_symbol":"SLC40A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:190425305-190448484","ensembl_id":"ENSG00000138449"}},"GRch38":{"90":{"location":"2:189560579-189583758","ensembl_id":"ENSG00000138449"}}},"hgnc_date_symbol_changed":"2003-06-05"},"entity_type":"gene","entity_name":"SLC40A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Hemochromatosis, type 4 606069"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HL","HTGL"],"biotype":"protein_coding","hgnc_id":"HGNC:6619","gene_name":"lipase C, hepatic type","omim_gene":["151670"],"alias_name":["Triacylglycerol lipase"],"gene_symbol":"LIPC","hgnc_symbol":"LIPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:58702768-58861151","ensembl_id":"ENSG00000166035"}},"GRch38":{"90":{"location":"15:58410569-58569843","ensembl_id":"ENSG00000166035"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LIPC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1671786","12777476","23219720","26423094","1883393","22464213"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Inherited mixed hyperlipidaemias","Hepatic lipase deficiency MIM#614025","hyperalphalipoproteinemia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11555793","27604308"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebral creatine deficiency syndrome 3 MIM#612718","AGAT deficiency MONDO:0012996"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11474","gene_name":"SURF1, cytochrome c oxidase assembly factor","omim_gene":["185620"],"alias_name":["surfeit locus protein 1"],"gene_symbol":"SURF1","hgnc_symbol":"SURF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136218610-136223552","ensembl_id":"ENSG00000148290"}},"GRch38":{"90":{"location":"9:133351755-133356676","ensembl_id":"ENSG00000148290"}}},"hgnc_date_symbol_changed":"1989-11-29"},"entity_type":"gene","entity_name":"SURF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23829769"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23590"],"biotype":"protein_coding","hgnc_id":"HGNC:966","gene_name":"Bardet-Biedl syndrome 1","omim_gene":["209901"],"alias_name":null,"gene_symbol":"BBS1","hgnc_symbol":"BBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66278077-66301098","ensembl_id":"ENSG00000174483"}},"GRch38":{"90":{"location":"11:66510606-66533627","ensembl_id":"ENSG00000174483"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"BBS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20177705","15637713"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 1, MIM# 209900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2556453","1710153","9585602"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Chronic granulomatous disease, X-linked, MIM#306400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAB","FLJ34064","FAAP95"],"biotype":"protein_coding","hgnc_id":"HGNC:3583","gene_name":"Fanconi anemia complementation group B","omim_gene":["300515"],"alias_name":null,"gene_symbol":"FANCB","hgnc_symbol":"FANCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14861529-14891191","ensembl_id":"ENSG00000181544"}},"GRch38":{"90":{"location":"X:14843407-14873069","ensembl_id":"ENSG00000181544"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anaemia, complementation group B, MIM#300514"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNPCC","FCC2","HNPCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:7127","gene_name":"mutL homolog 1","omim_gene":["120436"],"alias_name":null,"gene_symbol":"MLH1","hgnc_symbol":"MLH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:37034823-37107380","ensembl_id":"ENSG00000076242"}},"GRch38":{"90":{"location":"3:36993332-37050918","ensembl_id":"ENSG00000076242"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"MLH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Endometrial cancer, MONDO:0011962","Lynch syndrome 2, MONDO:0012249","Mismatch repair cancer syndrome 1, MONDO:0010159","Lynch syndrome 2, MIM#609310","Mismatch repair cancer syndrome 1, MIM#276300"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4373,"hash_id":null,"name":"Endometrial Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with endometrial cancer. \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 endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:28:51.012692+11:00","relevant_disorders":[],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ35894"],"biotype":"protein_coding","hgnc_id":"HGNC:26675","gene_name":"telomere repeat binding bouquet formation protein 1","omim_gene":["617332"],"alias_name":null,"gene_symbol":"TERB1","hgnc_symbol":"TERB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:66788879-66835523","ensembl_id":"ENSG00000249961"}},"GRch38":{"90":{"location":"16:66754976-66801620","ensembl_id":"ENSG00000249961"}}},"hgnc_date_symbol_changed":"2016-05-17"},"entity_type":"gene","entity_name":"TERB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38277113","35172124","33211200","32741963"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, TERB1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.148","version_created":"2026-04-21T17:36:51.081048+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":["RPC1","RPC155","hRPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:30074","gene_name":"RNA polymerase III subunit A","omim_gene":["614258"],"alias_name":null,"gene_symbol":"POLR3A","hgnc_symbol":"POLR3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79734907-79789303","ensembl_id":"ENSG00000148606"}},"GRch38":{"90":{"location":"10:77969251-78029545","ensembl_id":"ENSG00000148606"}}},"hgnc_date_symbol_changed":"2004-09-16"},"entity_type":"gene","entity_name":"POLR3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0838","GLS1"],"biotype":"protein_coding","hgnc_id":"HGNC:4331","gene_name":"glutaminase","omim_gene":["138280"],"alias_name":null,"gene_symbol":"GLS","hgnc_symbol":"GLS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191745553-191830278","ensembl_id":"ENSG00000115419"}},"GRch38":{"90":{"location":"2:190880827-190965552","ensembl_id":"ENSG00000115419"}}},"hgnc_date_symbol_changed":"1989-02-07"},"entity_type":"str","entity_name":"GLS_GDPAG_GCA","confidence_level":"3","penetrance":null,"publications":["30970188"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GCA","chromosome":"2","grch37_coordinates":[191745599,191745646],"grch38_coordinates":[190880873,190880920],"normal_repeats":16,"pathogenic_repeats":400,"tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}