{"count":36083,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=149","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=147","results":[{"gene_data":{"alias":["LGMD2K"],"biotype":"protein_coding","hgnc_id":"HGNC:9202","gene_name":"protein O-mannosyltransferase 1","omim_gene":["607423"],"alias_name":["dolichyl-phosphate-mannose-protein mannosyltransferase"],"gene_symbol":"POMT1","hgnc_symbol":"POMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:134378289-134399193","ensembl_id":"ENSG00000130714"}},"GRch38":{"90":{"location":"9:131502902-131523806","ensembl_id":"ENSG00000130714"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"POMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, MIM# 609308"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MEK1","MAPKK1"],"biotype":"protein_coding","hgnc_id":"HGNC:6840","gene_name":"mitogen-activated protein kinase kinase 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All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20315","DKFZp781H0392","URCC"],"biotype":"protein_coding","hgnc_id":"HGNC:18505","gene_name":"ring finger protein 43","omim_gene":["612482"],"alias_name":null,"gene_symbol":"RNF43","hgnc_symbol":"RNF43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56429861-56494956","ensembl_id":"ENSG00000108375"}},"GRch38":{"90":{"location":"17:58352500-58417595","ensembl_id":"ENSG00000108375"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"RNF43","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 24512911, 34541672, 27329244, 27081527, 29330307"],"evidence":["Expert list","Expert Review","Literature","Expert Review Green","Literature","Expert Review","Expert list"],"phenotypes":["Colorectal cancer, MONDO:0005575","Polyposis, MONDO:0000147","Sessile serrated polyposis cancer syndrome, MONDO:0014919","Sessile serrated polyposis cancer syndrome, MIM#617108"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AAKG","AAKG2","H91620p","WPWS","CMH6"],"biotype":"protein_coding","hgnc_id":"HGNC:9386","gene_name":"protein kinase AMP-activated non-catalytic subunit gamma 2","omim_gene":["602743"],"alias_name":["AMPK gamma2"],"gene_symbol":"PRKAG2","hgnc_symbol":"PRKAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:151253197-151574210","ensembl_id":"ENSG00000106617"}},"GRch38":{"90":{"location":"7:151556111-151877125","ensembl_id":"ENSG00000106617"}}},"hgnc_date_symbol_changed":"1997-05-09"},"entity_type":"gene","entity_name":"PRKAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15877279","17667862","32646569","30681346"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, hypertrophic 6, MIM# 600858","Glycogen storage disease of heart, lethal congenital, MIM# 261740"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["16E1BP"],"biotype":"protein_coding","hgnc_id":"HGNC:12307","gene_name":"thyroid hormone receptor interactor 13","omim_gene":["604507"],"alias_name":["thyroid receptor interacting protein 13"],"gene_symbol":"TRIP13","hgnc_symbol":"TRIP13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:892758-919472","ensembl_id":"ENSG00000071539"}},"GRch38":{"90":{"location":"5:892643-919357","ensembl_id":"ENSG00000071539"}}},"hgnc_date_symbol_changed":"2000-01-04"},"entity_type":"gene","entity_name":"TRIP13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28553959","32473092"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mosaic variegated aneuploidy syndrome 3, MIM# 617598","Oocyte maturation defect 9, MIM# 619011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"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":["GOA","RNF100"],"biotype":"protein_coding","hgnc_id":"HGNC:19020","gene_name":"tripartite motif containing 47","omim_gene":["611041"],"alias_name":null,"gene_symbol":"TRIM47","hgnc_symbol":"TRIM47","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73870242-73874656","ensembl_id":"ENSG00000132481"}},"GRch38":{"90":{"location":"17:75874161-75878575","ensembl_id":"ENSG00000132481"}}},"hgnc_date_symbol_changed":"2003-01-03"},"entity_type":"gene","entity_name":"TRIM47","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35511193"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Genetic cerebral small vessel disease MONDO:0018787"],"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":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"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":["Insp3r1","IP3R1","ACV","PPP1R94"],"biotype":"protein_coding","hgnc_id":"HGNC:6180","gene_name":"inositol 1,4,5-trisphosphate receptor type 1","omim_gene":["147265"],"alias_name":["protein phosphatase 1, regulatory subunit 94"],"gene_symbol":"ITPR1","hgnc_symbol":"ITPR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:4535032-4889524","ensembl_id":"ENSG00000150995"}},"GRch38":{"90":{"location":"3:4493348-4847840","ensembl_id":"ENSG00000150995"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"ITPR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27108797","31340402","30242502","29169895"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Gillespie syndrome, MIM# 206700","Spinocerebellar ataxia 15 MIM#606658","Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"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:7549","gene_name":"myosin binding protein C, slow type","omim_gene":["160794"],"alias_name":null,"gene_symbol":"MYBPC1","hgnc_symbol":"MYBPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:101962131-102079796","ensembl_id":"ENSG00000196091"}},"GRch38":{"90":{"location":"12:101568353-101686018","ensembl_id":"ENSG00000196091"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"MYBPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20045868","22610851","23873045","26661508","31264822","31025394"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, distal, type 1B 614335","Lethal congenital contracture syndrome 4, MIM# 614915","Myopathy, congenital, with tremor MIM#618524"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"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":["FLJ12660","IND1","huInd1"],"biotype":"protein_coding","hgnc_id":"HGNC:20278","gene_name":"nucleotide binding protein like","omim_gene":["613621"],"alias_name":["iron-sulfur protein required for NADH dehydrogenase"],"gene_symbol":"NUBPL","hgnc_symbol":"NUBPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31959162-32330430","ensembl_id":"ENSG00000151413"}},"GRch38":{"90":{"location":"14:31489956-31861224","ensembl_id":"ENSG00000151413"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"NUBPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20818383","32518176","23553477","31917109","32518176","31787496","30897263","22826544"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"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":["MSH","POC","CLIP","ACTH","NPP","LPH"],"biotype":"protein_coding","hgnc_id":"HGNC:9201","gene_name":"proopiomelanocortin","omim_gene":["176830"],"alias_name":["adrenocorticotropin","beta-lipotropin","alpha-melanocyte stimulating hormone","beta-melanocyte stimulating hormone","beta-endorphin","adrenocorticotropic hormone","opiomelanocortin prepropeptide"],"gene_symbol":"POMC","hgnc_symbol":"POMC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25383722-25391772","ensembl_id":"ENSG00000115138"}},"GRch38":{"90":{"location":"2:25160853-25168903","ensembl_id":"ENSG00000115138"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"POMC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33666293"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2323","gene_name":"carbamoyl-phosphate synthase 1","omim_gene":["608307"],"alias_name":["carbamoyl-phosphate synthase (ammonia)"],"gene_symbol":"CPS1","hgnc_symbol":"CPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:211342406-211543831","ensembl_id":"ENSG00000021826"}},"GRch38":{"90":{"location":"2:210477682-210679107","ensembl_id":"ENSG00000021826"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Carbamoylphosphate synthetase I deficiency MIM#237300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZBTB15","c-Krox","hcKrox","ZNF857B"],"biotype":"protein_coding","hgnc_id":"HGNC:18668","gene_name":"zinc finger and BTB domain containing 7B","omim_gene":["607646"],"alias_name":["zinc finger and BTB domain containing 15"],"gene_symbol":"ZBTB7B","hgnc_symbol":"ZBTB7B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154975127-154990998","ensembl_id":"ENSG00000160685"}},"GRch38":{"90":{"location":"1:155002630-155018522","ensembl_id":"ENSG00000160685"}}},"hgnc_date_symbol_changed":"2005-04-07"},"entity_type":"gene","entity_name":"ZBTB7B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 40392549"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, ZBTB7B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301584","8462096","8401490","7883965","9399950"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Combined immunodeficiency, X-linked, moderate MIM# 312863","Severe combined immunodeficiency, X-linked MIM# 300400","recurrent viral/fungal/bacterial infections","Low T/NK cells","Low Ig levels","lymphocytopaenia","hypogammaglobulinaemia","failure to thrive","diarrhoea","Pneumonia","Thymic hypoplasia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hucep-6","KIAA0272","UCHL2"],"biotype":"protein_coding","hgnc_id":"HGNC:950","gene_name":"BRCA1 associated protein 1","omim_gene":["603089"],"alias_name":["ubiquitin carboxy-terminal hydrolase"],"gene_symbol":"BAP1","hgnc_symbol":"BAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52435029-52444366","ensembl_id":"ENSG00000163930"}},"GRch38":{"90":{"location":"3:52401013-52410350","ensembl_id":"ENSG00000163930"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"BAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 30234181"],"evidence":["Literature","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":242,"hash_id":null,"name":"Homologous_recombination_deficiency_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of genes involved in homologous recombination DNA damage repair (HR-DDR) deficiency in various cancer types. This set of genes is used in UMCCR WTS report \"HRD genes\" section\r\n\r\nSource: -\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.45","version_created":"2025-11-03T15:31:09.278966+11:00","relevant_disorders":[],"stats":{"number_of_genes":36,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hUNC18","MUNC18-1","UNC18","rbSec1"],"biotype":"protein_coding","hgnc_id":"HGNC:11444","gene_name":"syntaxin binding protein 1","omim_gene":["602926"],"alias_name":["syntaxin-binding protein 1"],"gene_symbol":"STXBP1","hgnc_symbol":"STXBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130374544-130457460","ensembl_id":"ENSG00000136854"}},"GRch38":{"90":{"location":"9:127579370-127696027","ensembl_id":"ENSG00000136854"}}},"hgnc_date_symbol_changed":"1996-12-27"},"entity_type":"gene","entity_name":"STXBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27905812"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["developmental and epileptic encephalopathy, 4 MONDO:0012812"],"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":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC14833","bA6B20.2","M19","Cbp6"],"biotype":"protein_coding","hgnc_id":"HGNC:21237","gene_name":"ubiquinol-cytochrome c reductase complex assembly factor 2","omim_gene":["614461"],"alias_name":["cytochrome B protein synthesis 6 homolog (S. cerevisiae)"],"gene_symbol":"UQCC2","hgnc_symbol":"UQCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33662070-33679504","ensembl_id":"ENSG00000137288"}},"GRch38":{"90":{"location":"6:33694293-33711727","ensembl_id":"ENSG00000137288"}}},"hgnc_date_symbol_changed":"2013-09-20"},"entity_type":"gene","entity_name":"UQCC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["PubMed: 28804536","24385928"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial complex III deficiency, nuclear type 7","OMIM #615824"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LYRM8"],"biotype":"protein_coding","hgnc_id":"HGNC:33867","gene_name":"succinate dehydrogenase complex assembly factor 1","omim_gene":["612848"],"alias_name":["LYR motif containing 8"],"gene_symbol":"SDHAF1","hgnc_symbol":"SDHAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36486090-36487220","ensembl_id":"ENSG00000205138"}},"GRch38":{"90":{"location":"19:35995199-35996315","ensembl_id":"ENSG00000205138"}}},"hgnc_date_symbol_changed":"2009-05-27"},"entity_type":"gene","entity_name":"SDHAF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19465911","26749241","22995659"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0551"],"biotype":"protein_coding","hgnc_id":"HGNC:30765","gene_name":"TRAF2 and NCK interacting kinase","omim_gene":["610005"],"alias_name":null,"gene_symbol":"TNIK","hgnc_symbol":"TNIK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:170779128-171178197","ensembl_id":"ENSG00000154310"}},"GRch38":{"90":{"location":"3:171061339-171460408","ensembl_id":"ENSG00000154310"}}},"hgnc_date_symbol_changed":"2004-02-26"},"entity_type":"gene","entity_name":"TNIK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27106596","23035106"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal recessive 54, MIM# 617028"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC21559","MGC111193"],"biotype":"protein_coding","hgnc_id":"HGNC:3006","gene_name":"dolichyl-phosphate mannosyltransferase subunit 2, regulatory","omim_gene":["603564"],"alias_name":["DPM synthase complex subunit"],"gene_symbol":"DPM2","hgnc_symbol":"DPM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130697378-130700763","ensembl_id":"ENSG00000136908"}},"GRch38":{"90":{"location":"9:127935099-127938484","ensembl_id":"ENSG00000136908"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Expert Review Red","UKGTN","Radboud University Medical Center, Nijmegen","Expert list","Emory Genetics 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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":["EZH1","ENX-1","KMT6","KMT6A"],"biotype":"protein_coding","hgnc_id":"HGNC:3527","gene_name":"enhancer of zeste 2 polycomb repressive complex 2 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22170","AAF132"],"biotype":"protein_coding","hgnc_id":"HGNC:26169","gene_name":"CST telomere replication complex component 1","omim_gene":["613129"],"alias_name":["conserved telomere maintenance component 1","alpha accessory factor 132","conserved telomere capping protein 1"],"gene_symbol":"CTC1","hgnc_symbol":"CTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8130191-8151362","ensembl_id":"ENSG00000178971"}},"GRch38":{"90":{"location":"17:8224821-8248044","ensembl_id":"ENSG00000178971"}}},"hgnc_date_symbol_changed":"2011-02-21"},"entity_type":"gene","entity_name":"CTC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22267198","22387016"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cerebroretinal microangiopathy with calcifications and cysts, MIM#\t612199"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["WDR140","WDR10p","SPG"],"biotype":"protein_coding","hgnc_id":"HGNC:13556","gene_name":"intraflagellar transport 122","omim_gene":["606045"],"alias_name":null,"gene_symbol":"IFT122","hgnc_symbol":"IFT122","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:129158968-129239198","ensembl_id":"ENSG00000163913"}},"GRch38":{"90":{"location":"3:129440036-129520507","ensembl_id":"ENSG00000163913"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT122","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Sensenbrenner syndrome, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2"],"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":null},{"gene_data":{"alias":["CLC2","EJM6","ClC-2"],"biotype":"protein_coding","hgnc_id":"HGNC:2020","gene_name":"chloride voltage-gated channel 2","omim_gene":["600570"],"alias_name":null,"gene_symbol":"CLCN2","hgnc_symbol":"CLCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:184063973-184079439","ensembl_id":"ENSG00000114859"}},"GRch38":{"90":{"location":"3:184346185-184361651","ensembl_id":"ENSG00000114859"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36964785"],"evidence":["Expert Review Green","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy with ataxia MIM#\t615651"],"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":["CD230","PRP","AltPrP"],"biotype":"protein_coding","hgnc_id":"HGNC:9449","gene_name":"prion protein","omim_gene":["176640"],"alias_name":["Creutzfeldt-Jakob disease","Gerstmann-Strausler-Scheinker syndrome","fatal familial insomnia","p27-30"],"gene_symbol":"PRNP","hgnc_symbol":"PRNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:4666882-4682236","ensembl_id":"ENSG00000171867"}},"GRch38":{"90":{"location":"20:4686236-4701590","ensembl_id":"ENSG00000171867"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PRNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27716661","24224623","25287017","26768678"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cerebral amyloid angiopathy, PRNP-related,\t137440"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3126,"hash_id":null,"name":"Pain syndromes","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.","status":"public","version":"0.38","version_created":"2026-02-22T15:47:27.675595+11:00","relevant_disorders":["Pain","HP:0012531"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22490","CSPP","JBTS21"],"biotype":"protein_coding","hgnc_id":"HGNC:26193","gene_name":"centrosome and spindle pole associated protein 1","omim_gene":["611654"],"alias_name":null,"gene_symbol":"CSPP1","hgnc_symbol":"CSPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:67974661-68108498","ensembl_id":"ENSG00000104218"}},"GRch38":{"90":{"location":"8:67062426-67196263","ensembl_id":"ENSG00000104218"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"CSPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 21, 615636 (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":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic paraplegia 15, autosomal recessive, 270700 (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":["hCHT","CHT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14025","gene_name":"solute carrier family 5 member 7","omim_gene":["608761"],"alias_name":null,"gene_symbol":"SLC5A7","hgnc_symbol":"SLC5A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:108602979-108630450","ensembl_id":"ENSG00000115665"}},"GRch38":{"90":{"location":"2:107986523-108013994","ensembl_id":"ENSG00000115665"}}},"hgnc_date_symbol_changed":"2000-11-27"},"entity_type":"gene","entity_name":"SLC5A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myasthenic syndrome, congenital, 20, presynaptic, 617143 (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":["KIAA1620"],"biotype":"protein_coding","hgnc_id":"HGNC:13797","gene_name":"periaxin","omim_gene":["605725"],"alias_name":null,"gene_symbol":"PRX","hgnc_symbol":"PRX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40899675-40919273","ensembl_id":"ENSG00000105227"}},"GRch38":{"90":{"location":"19:40393768-40413366","ensembl_id":"ENSG00000105227"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PRX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dejerine-Sottas disease, 145900 (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":["PDP","PDH","PPM2A"],"biotype":"protein_coding","hgnc_id":"HGNC:9279","gene_name":"pyruvate dehyrogenase phosphatase catalytic subunit 1","omim_gene":["605993"],"alias_name":["protein phosphatase, Mg2+/Mn2+ dependent 2A"],"gene_symbol":"PDP1","hgnc_symbol":"PDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94870035-94938294","ensembl_id":"ENSG00000164951"}},"GRch38":{"90":{"location":"8:93857807-93926066","ensembl_id":"ENSG00000164951"}}},"hgnc_date_symbol_changed":"2009-06-12"},"entity_type":"gene","entity_name":"PDP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase phosphatase deficiency, 608782 (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":["MUPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:7208","gene_name":"multiple PDZ domain crumbs cell polarity complex component","omim_gene":["603785"],"alias_name":null,"gene_symbol":"MPDZ","hgnc_symbol":"MPDZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:13105703-13279589","ensembl_id":"ENSG00000107186"}},"GRch38":{"90":{"location":"9:13105704-13279590","ensembl_id":"ENSG00000107186"}}},"hgnc_date_symbol_changed":"1998-12-16"},"entity_type":"gene","entity_name":"MPDZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (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":["FLJ20345","POC12","BBS13"],"biotype":"protein_coding","hgnc_id":"HGNC:7121","gene_name":"Meckel syndrome, type 1","omim_gene":["609883"],"alias_name":["POC12 centriolar protein homolog (Chlamydomonas)"],"gene_symbol":"MKS1","hgnc_symbol":"MKS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56282803-56296966","ensembl_id":"ENSG00000011143"}},"GRch38":{"90":{"location":"17:58205437-58219605","ensembl_id":"ENSG00000011143"}}},"hgnc_date_symbol_changed":"1995-11-07"},"entity_type":"gene","entity_name":"MKS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meckel syndrome 1, 249000 (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":["EPD","PDE"],"biotype":"protein_coding","hgnc_id":"HGNC:877","gene_name":"aldehyde dehydrogenase 7 family member A1","omim_gene":["107323"],"alias_name":["antiquitin 1","26g turgor protein homolog","alpha-aminoadipic semialdehyde dehydrogenase","alpha-AASA dehydrogenase","delta1-piperideine-6-carboxylate dehydrogenease","P6c dehydrogenase"],"gene_symbol":"ALDH7A1","hgnc_symbol":"ALDH7A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:125877533-125931110","ensembl_id":"ENSG00000164904"}},"GRch38":{"90":{"location":"5:126531200-126595418","ensembl_id":"ENSG00000164904"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"ALDH7A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epilepsy, pyridoxine-dependent, 266100 (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":["FLJ10326"],"biotype":"protein_coding","hgnc_id":"HGNC:29685","gene_name":"isoleucyl-tRNA synthetase 2, mitochondrial","omim_gene":["612801"],"alias_name":["isoleucine tRNA ligase 2, mitochondrial"],"gene_symbol":"IARS2","hgnc_symbol":"IARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220267444-220321380","ensembl_id":"ENSG00000067704"}},"GRch38":{"90":{"location":"1:220094102-220148041","ensembl_id":"ENSG00000067704"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"IARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. 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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":["HGPRT"],"biotype":"protein_coding","hgnc_id":"HGNC:5157","gene_name":"hypoxanthine phosphoribosyltransferase 1","omim_gene":["308000"],"alias_name":["Lesch-Nyhan syndrome"],"gene_symbol":"HPRT1","hgnc_symbol":"HPRT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:133594183-133654543","ensembl_id":"ENSG00000165704"}},"GRch38":{"90":{"location":"X:134460153-134520513","ensembl_id":"ENSG00000165704"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HPRT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Lesch-Nyhan syndrome 1"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["STAR"],"biotype":"protein_coding","hgnc_id":"HGNC:4688","gene_name":"guanylate cyclase 2C","omim_gene":["601330"],"alias_name":["STA receptor","heat stable enterotoxin receptor"],"gene_symbol":"GUCY2C","hgnc_symbol":"GUCY2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:14765576-14849519","ensembl_id":"ENSG00000070019"}},"GRch38":{"90":{"location":"12:14612632-14696585","ensembl_id":"ENSG00000070019"}}},"hgnc_date_symbol_changed":"1994-04-15"},"entity_type":"gene","entity_name":"GUCY2C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Meconium ileus"],"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":["EIEE2","CFAP247"],"biotype":"protein_coding","hgnc_id":"HGNC:11411","gene_name":"cyclin dependent kinase like 5","omim_gene":["300203"],"alias_name":null,"gene_symbol":"CDKL5","hgnc_symbol":"CDKL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18443703-18671749","ensembl_id":"ENSG00000008086"}},"GRch38":{"90":{"location":"X:18425583-18653629","ensembl_id":"ENSG00000008086"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"CDKL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Epileptic encephalopathy, early infantile, 2"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["TRX1","HRX","ALL-1","HTRX1","CXXC7","MLL1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7132","gene_name":"lysine methyltransferase 2A","omim_gene":["159555"],"alias_name":null,"gene_symbol":"KMT2A","hgnc_symbol":"KMT2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118307205-118397539","ensembl_id":"ENSG00000118058"}},"GRch38":{"90":{"location":"11:118436490-118526832","ensembl_id":"ENSG00000118058"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25929198","30305169","31710778","37010288"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Wiedemann-Steiner syndrome, OMIM:605130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1752","MGC5149","ALKBH9"],"biotype":"protein_coding","hgnc_id":"HGNC:24678","gene_name":"FTO, alpha-ketoglutarate dependent dioxygenase","omim_gene":["610966"],"alias_name":["alkB homolog 9","alpha-ketoglutarate-dependent dioxygenase"],"gene_symbol":"FTO","hgnc_symbol":"FTO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53737875-54155853","ensembl_id":"ENSG00000140718"}},"GRch38":{"90":{"location":"16:53701692-54158512","ensembl_id":"ENSG00000140718"}}},"hgnc_date_symbol_changed":"2007-04-12"},"entity_type":"gene","entity_name":"FTO","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26378117","19559399"],"evidence":["Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Growth retardation, developmental delay, facial dysmorphism, 612938","Lethal polymalformative syndrome, Boissel type"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BBF2H7","TCAG_1951439"],"biotype":"protein_coding","hgnc_id":"HGNC:23720","gene_name":"cAMP responsive element binding protein 3 like 2","omim_gene":["608834"],"alias_name":null,"gene_symbol":"CREB3L2","hgnc_symbol":"CREB3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:137559725-137686813","ensembl_id":"ENSG00000182158"}},"GRch38":{"90":{"location":"7:137874979-138002067","ensembl_id":"ENSG00000182158"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"CREB3L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:1097","gene_name":"B-Raf proto-oncogene, serine/threonine kinase","omim_gene":["164757"],"alias_name":null,"gene_symbol":"BRAF","hgnc_symbol":"BRAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:140419127-140624564","ensembl_id":"ENSG00000157764"}},"GRch38":{"90":{"location":"7:140719327-140924764","ensembl_id":"ENSG00000157764"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"BRAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["16474404","21396583","16825433","19206169","18042262"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome 7, MIM# 613706","Cardiofaciocutaneous syndrome, MIM# 115150"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.104","version_created":"2026-04-26T12:53:45.051003+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLVCR","MFSD7B","PCA"],"biotype":"protein_coding","hgnc_id":"HGNC:24682","gene_name":"feline leukemia virus subgroup C cellular receptor 1","omim_gene":["609144"],"alias_name":null,"gene_symbol":"FLVCR1","hgnc_symbol":"FLVCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213031597-213072705","ensembl_id":"ENSG00000162769"}},"GRch38":{"90":{"location":"1:212858255-212899363","ensembl_id":"ENSG00000162769"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39306721"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, FLVCR1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CSNBAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:4393","gene_name":"G protein subunit alpha transducin 1","omim_gene":["139330"],"alias_name":null,"gene_symbol":"GNAT1","hgnc_symbol":"GNAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50229045-50233949","ensembl_id":"ENSG00000114349"}},"GRch38":{"90":{"location":"3:50191612-50196516","ensembl_id":"ENSG00000114349"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Night blindness, congenital stationary, autosomal dominant 3, IM# 610444","Night blindness, congenital stationary, type 1G, MIM# 616389"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIGEA14","PIGEA-14","Chibby","Cby"],"biotype":"protein_coding","hgnc_id":"HGNC:1307","gene_name":"chibby family member 1, beta catenin antagonist","omim_gene":["607757"],"alias_name":["chibby CTNNB1-mediated transcription inhibitor"],"gene_symbol":"CBY1","hgnc_symbol":"CBY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39052641-39069859","ensembl_id":"ENSG00000100211"}},"GRch38":{"90":{"location":"22:38656636-38673854","ensembl_id":"ENSG00000100211"}}},"hgnc_date_symbol_changed":"2007-01-26"},"entity_type":"gene","entity_name":"CBY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33131181","25103236","25220153"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome, MONDO:0018772, CBY1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP434H0115"],"biotype":"protein_coding","hgnc_id":"HGNC:25280","gene_name":"tetratricopeptide repeat domain 25","omim_gene":["617095"],"alias_name":null,"gene_symbol":"TTC25","hgnc_symbol":"TTC25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40086888-40117648","ensembl_id":"ENSG00000204815"}},"GRch38":{"90":{"location":"17:41930635-41965651","ensembl_id":"ENSG00000204815"}}},"hgnc_date_symbol_changed":"2005-12-14"},"entity_type":"gene","entity_name":"TTC25","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27486780","31765523","33715250","33746037","34215651"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 35 (MIM#617092)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDR"],"biotype":"protein_coding","hgnc_id":"HGNC:4172","gene_name":"GATA binding protein 3","omim_gene":["131320"],"alias_name":null,"gene_symbol":"GATA3","hgnc_symbol":"GATA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:8095567-8117161","ensembl_id":"ENSG00000107485"}},"GRch38":{"90":{"location":"10:8053604-8075198","ensembl_id":"ENSG00000107485"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29663634"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255","Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434J046","FLJ33298"],"biotype":"protein_coding","hgnc_id":"HGNC:24502","gene_name":"WD repeat domain 62","omim_gene":["613583"],"alias_name":null,"gene_symbol":"WDR62","hgnc_symbol":"WDR62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36545783-36596008","ensembl_id":"ENSG00000075702"}},"GRch38":{"90":{"location":"19:36054881-36105106","ensembl_id":"ENSG00000075702"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"WDR62","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20890279","20729831","20890278","21496009","21834044","22775483","32677750","31788460"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317","MONDO:0011435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1739","gene_name":"cell division cycle 45","omim_gene":["603465"],"alias_name":["human CDC45"],"gene_symbol":"CDC45","hgnc_symbol":"CDC45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19466982-19508135","ensembl_id":"ENSG00000093009"}},"GRch38":{"90":{"location":"22:19479459-19520612","ensembl_id":"ENSG00000093009"}}},"hgnc_date_symbol_changed":"2010-03-24"},"entity_type":"gene","entity_name":"CDC45","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31474763","27374770"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Meier-Gorlin syndrome 7, MIM 617063"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7525","gene_name":"muscle associated receptor tyrosine kinase","omim_gene":["601296"],"alias_name":null,"gene_symbol":"MUSK","hgnc_symbol":"MUSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:113431051-113563859","ensembl_id":"ENSG00000030304"}},"GRch38":{"90":{"location":"9:110668771-110801620","ensembl_id":"ENSG00000030304"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"MUSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25537362","25612909","8653786","31750350","15496425","19949040","20371544","32253145"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fetal akinesia deformation sequence 1 MIM#208150","Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNU1","D2H","RBAT","ATR1","NBAT"],"biotype":"protein_coding","hgnc_id":"HGNC:11025","gene_name":"solute carrier family 3 member 1","omim_gene":["104614"],"alias_name":null,"gene_symbol":"SLC3A1","hgnc_symbol":"SLC3A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44502599-44548633","ensembl_id":"ENSG00000138079"}},"GRch38":{"90":{"location":"2:44275458-44321494","ensembl_id":"ENSG00000138079"}}},"hgnc_date_symbol_changed":"1993-12-16"},"entity_type":"gene","entity_name":"SLC3A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8054986","16374432","8486766"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["cystinuria MONDO:0009067"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBCAD","ACAD7"],"biotype":"protein_coding","hgnc_id":"HGNC:91","gene_name":"acyl-CoA dehydrogenase short/branched chain","omim_gene":["600301"],"alias_name":null,"gene_symbol":"ACADSB","hgnc_symbol":"ACADSB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:124768495-124817827","ensembl_id":"ENSG00000196177"}},"GRch38":{"90":{"location":"10:123008979-123058311","ensembl_id":"ENSG00000196177"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"ACADSB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25778941","17945527","29152456"],"evidence":["Expert Review Green","Literature"],"phenotypes":["2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Peroxisome biogenesis disorder 9B, MIM# 614879","Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100"],"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":["LPAAT-beta"],"biotype":"protein_coding","hgnc_id":"HGNC:325","gene_name":"1-acylglycerol-3-phosphate O-acyltransferase 2","omim_gene":["603100"],"alias_name":["lysophosphatidic acid acyltransferase, beta"],"gene_symbol":"AGPAT2","hgnc_symbol":"AGPAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139567595-139581875","ensembl_id":"ENSG00000169692"}},"GRch38":{"90":{"location":"9:136673143-136687423","ensembl_id":"ENSG00000169692"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"AGPAT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29704234"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Lipodystrophy, congenital generalized, type 1, MIM#\t608594"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAD","S182","PS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9508","gene_name":"presenilin 1","omim_gene":["104311"],"alias_name":null,"gene_symbol":"PSEN1","hgnc_symbol":"PSEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:73603126-73690399","ensembl_id":"ENSG00000080815"}},"GRch38":{"90":{"location":"14:73136418-73223691","ensembl_id":"ENSG00000080815"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PSEN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Alzheimer disease, type 3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2210","gene_name":"collagen type V alpha 2 chain","omim_gene":["120190"],"alias_name":["AB collagen"],"gene_symbol":"COL5A2","hgnc_symbol":"COL5A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:189896622-190044605","ensembl_id":"ENSG00000204262"}},"GRch38":{"90":{"location":"2:189031896-189179879","ensembl_id":"ENSG00000204262"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL5A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ehlers-Danlos syndrome, classic type, 2 MIM#130010"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GBP","LCEH","LCHAD","MTPA"],"biotype":"protein_coding","hgnc_id":"HGNC:4801","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","omim_gene":["600890"],"alias_name":["gastrin-binding protein","long-chain-3-hydroxyacyl-CoA dehydrogenase","long-chain 2-enoyl-CoA hydratase","mitochondrial trifunctional protein, alpha subunit"],"gene_symbol":"HADHA","hgnc_symbol":"HADHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26413504-26467594","ensembl_id":"ENSG00000084754"}},"GRch38":{"90":{"location":"2:26190635-26244726","ensembl_id":"ENSG00000084754"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["LCHAD deficiency MIM#609016","Mitochondrial trifunctional protein deficiency 1 MIM#609015"],"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":["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":["22819833","20835237","32432520","22626039","31534065","26968886"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 16 (MIM# 615993)","Senior-Loken syndrome 7 (MIM# 613615)"],"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:417","gene_name":"aldolase, fructose-bisphosphate B","omim_gene":["612724"],"alias_name":null,"gene_symbol":"ALDOB","hgnc_symbol":"ALDOB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:104182860-104198105","ensembl_id":"ENSG00000136872"}},"GRch38":{"90":{"location":"9:101420578-101435823","ensembl_id":"ENSG00000136872"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["3083321"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fructose intolerance, hereditary, MIM# 229600"],"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":["DAN"],"biotype":"protein_coding","hgnc_id":"HGNC:8609","gene_name":"poly(A)-specific ribonuclease","omim_gene":["604212"],"alias_name":["deadenylation nuclease"],"gene_symbol":"PARN","hgnc_symbol":"PARN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14529558-14726585","ensembl_id":"ENSG00000140694"}},"GRch38":{"90":{"location":"16:14435701-14632728","ensembl_id":"ENSG00000140694"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"PARN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30525901","25893599","25848748","31448843"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0014612"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATX2"],"biotype":"protein_coding","hgnc_id":"HGNC:10555","gene_name":"ataxin 2","omim_gene":["601517"],"alias_name":["trinucleotide repeat containing 13"],"gene_symbol":"ATXN2","hgnc_symbol":"ATXN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111890018-112037480","ensembl_id":"ENSG00000204842"}},"GRch38":{"90":{"location":"12:111452214-111599676","ensembl_id":"ENSG00000204842"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN2_SCA2_CAG","confidence_level":"3","penetrance":null,"publications":["20301452"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar ataxia 2 MIM#183090"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"12","grch37_coordinates":[112036755,112036823],"grch38_coordinates":[111598951,111599016],"normal_repeats":31,"pathogenic_repeats":35,"tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.49","version_created":"2026-04-23T12:45:48.200383+10:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"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":[]}}]}