{"count":36026,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=344","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=342","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12410","gene_name":"tubulin alpha 8","omim_gene":["605742"],"alias_name":null,"gene_symbol":"TUBA8","hgnc_symbol":"TUBA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:18593097-18629321","ensembl_id":"ENSG00000183785"}},"GRch38":{"90":{"location":"22:18110331-18146554","ensembl_id":"ENSG00000183785"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"TUBA8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19896110","31481326","28388629"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 8, MIM# 613180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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(CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"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":"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":["SEN34","SEN34L"],"biotype":"protein_coding","hgnc_id":"HGNC:15506","gene_name":"tRNA splicing endonuclease subunit 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both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluN2A"],"biotype":"protein_coding","hgnc_id":"HGNC:4585","gene_name":"glutamate ionotropic receptor NMDA type subunit 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Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne 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It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.75","version_created":"2026-03-30T10:17:46.701193+11:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11006","gene_name":"solute carrier family 2 member 2","omim_gene":["138160"],"alias_name":null,"gene_symbol":"SLC2A2","hgnc_symbol":"SLC2A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:170714137-170744539","ensembl_id":"ENSG00000163581"}},"GRch38":{"90":{"location":"3:170996348-171026750","ensembl_id":"ENSG00000163581"}}},"hgnc_date_symbol_changed":"1989-01-13"},"entity_type":"gene","entity_name":"SLC2A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi-Bickel syndrome, MIM# 227810"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. 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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":[]},{"gene_data":{"alias":["OCI-5","SGBS","SGBS1","SGB","DGSX"],"biotype":"protein_coding","hgnc_id":"HGNC:4451","gene_name":"glypican 3","omim_gene":["300037"],"alias_name":["glypican proteoglycan 3"],"gene_symbol":"GPC3","hgnc_symbol":"GPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132669773-133119922","ensembl_id":"ENSG00000147257"}},"GRch38":{"90":{"location":"X:133535745-133985895","ensembl_id":"ENSG00000147257"}}},"hgnc_date_symbol_changed":"1996-08-08"},"entity_type":"gene","entity_name":"GPC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301398"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Simpson-Golabi-Behmel syndrome, type 1\tMIM#312870"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VATC","Vma5"],"biotype":"protein_coding","hgnc_id":"HGNC:856","gene_name":"ATPase H+ transporting V1 subunit C1","omim_gene":["603097"],"alias_name":null,"gene_symbol":"ATP6V1C1","hgnc_symbol":"ATP6V1C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:104033291-104085279","ensembl_id":"ENSG00000155097"}},"GRch38":{"90":{"location":"8:103021063-103073051","ensembl_id":"ENSG00000155097"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1C1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["39210597"],"evidence":["Expert Review Red","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZETA"],"biotype":"protein_coding","hgnc_id":"HGNC:9534","gene_name":"proteasome subunit alpha 5","omim_gene":["176844"],"alias_name":null,"gene_symbol":"PSMA5","hgnc_symbol":"PSMA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109941653-109969062","ensembl_id":"ENSG00000143106"}},"GRch38":{"90":{"location":"1:109399031-109426427","ensembl_id":"ENSG00000143106"}}},"hgnc_date_symbol_changed":"1995-05-03"},"entity_type":"gene","entity_name":"PSMA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37600812"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, PSMA5-related","PRAAS/CANDLE"],"mode_of_inheritance":"Other","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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SCARA1","CD204","SR-AI","SR-AII","SR-AIII","SR-A"],"biotype":"protein_coding","hgnc_id":"HGNC:7376","gene_name":"macrophage scavenger receptor 1","omim_gene":["153622"],"alias_name":null,"gene_symbol":"MSR1","hgnc_symbol":"MSR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:15965387-16424999","ensembl_id":"ENSG00000038945"}},"GRch38":{"90":{"location":"8:16107878-16567490","ensembl_id":"ENSG00000038945"}}},"hgnc_date_symbol_changed":"1991-08-07"},"entity_type":"gene","entity_name":"MSR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12958598","21791690"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Barrett esophagus/esophageal adenocarcinoma, MIM# 614266"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["IP3KC","IP3-3KC"],"biotype":"protein_coding","hgnc_id":"HGNC:14897","gene_name":"inositol-trisphosphate 3-kinase C","omim_gene":["606476"],"alias_name":null,"gene_symbol":"ITPKC","hgnc_symbol":"ITPKC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41223008-41246765","ensembl_id":"ENSG00000086544"}},"GRch38":{"90":{"location":"19:40717103-40740860","ensembl_id":"ENSG00000086544"}}},"hgnc_date_symbol_changed":"2001-06-28"},"entity_type":"gene","entity_name":"ITPKC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32283413","29098351","27036498"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["MGC8941","MRX89"],"biotype":"protein_coding","hgnc_id":"HGNC:13107","gene_name":"zinc finger protein 41","omim_gene":["314995"],"alias_name":null,"gene_symbol":"ZNF41","hgnc_symbol":"ZNF41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:47305278-47342345","ensembl_id":"ENSG00000147124"}},"GRch38":{"90":{"location":"X:47445879-47482946","ensembl_id":"ENSG00000147124"}}},"hgnc_date_symbol_changed":"1990-10-23"},"entity_type":"gene","entity_name":"ZNF41","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["14628291","23871722"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["non-syndromic X-linked intellectual disability MONDO:0019181"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["disputed"],"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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA50D16.2","FLJ12661"],"biotype":"protein_coding","hgnc_id":"HGNC:20291","gene_name":"proline and serine rich 1","omim_gene":null,"alias_name":null,"gene_symbol":"PROSER1","hgnc_symbol":"PROSER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:39584003-39612252","ensembl_id":"ENSG00000120685"}},"GRch38":{"90":{"location":"13:39009866-39038076","ensembl_id":"ENSG00000120685"}}},"hgnc_date_symbol_changed":"2011-08-09"},"entity_type":"gene","entity_name":"PROSER1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["35229282"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Syndromic disease MONDO:0002254, PROSER1-related"],"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. 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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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HMG2A","MGC90319"],"biotype":"protein_coding","hgnc_id":"HGNC:5004","gene_name":"high mobility group box 3","omim_gene":["300193"],"alias_name":["non-histone chromosomal protein"],"gene_symbol":"HMGB3","hgnc_symbol":"HMGB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:150148982-150159248","ensembl_id":"ENSG00000029993"}},"GRch38":{"90":{"location":"X:150980509-150990775","ensembl_id":"ENSG00000029993"}}},"hgnc_date_symbol_changed":"2002-08-16"},"entity_type":"gene","entity_name":"HMGB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24993872"],"evidence":["Expert Review Red","Literature"],"phenotypes":["X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome\tMONDO:0010485"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.4723","version_created":"2026-04-06T18:01:52.429035+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["B14.5a"],"biotype":"protein_coding","hgnc_id":"HGNC:7691","gene_name":"NADH:ubiquinone oxidoreductase subunit 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atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8632","gene_name":"PBX homeobox 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genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HVH1","CL100","MKP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3064","gene_name":"dual specificity phosphatase 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Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hcp-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1857","gene_name":"centromere protein 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These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":437,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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It is currently maintained by VCGS.\r\n\r\nUpdated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al. 2019 and the COVID Human Genetic Effort list, Casanova et al 2020.","status":"public","version":"1.10","version_created":"2026-03-26T15:17:02.053015+11:00","relevant_disorders":["Recurrent viral infections","HP:0004429; Severe viral infection","HP:0031691"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PAN2","SDR7C4"],"biotype":"protein_coding","hgnc_id":"HGNC:19979","gene_name":"retinol dehydrogenase 14 (all-trans/9-cis/11-cis)","omim_gene":["616796"],"alias_name":["short chain dehydrogenase/reductase family 7C, member 4"],"gene_symbol":"RDH14","hgnc_symbol":"RDH14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:18735989-18741946","ensembl_id":"ENSG00000240857"}},"GRch38":{"90":{"location":"2:18554723-18560680","ensembl_id":"ENSG00000240857"}}},"hgnc_date_symbol_changed":"2002-12-11"},"entity_type":"gene","entity_name":"RDH14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34848785"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, RDH14-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MYHC-EMB","MYHSE1","HEMHC","SMHCE"],"biotype":"protein_coding","hgnc_id":"HGNC:7573","gene_name":"myosin heavy chain 3","omim_gene":["160720"],"alias_name":["myosin, skeletal, heavy chain, embryonic 1","muscle embryonic myosin heavy chain 3"],"gene_symbol":"MYH3","hgnc_symbol":"MYH3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10531843-10560626","ensembl_id":"ENSG00000109063"}},"GRch38":{"90":{"location":"17:10628526-10657309","ensembl_id":"ENSG00000109063"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYH3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700","Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436","Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110","Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEM3"],"biotype":"protein_coding","hgnc_id":"HGNC:129","gene_name":"actin, alpha 1, skeletal muscle","omim_gene":["102610"],"alias_name":["nemaline myopathy type 3"],"gene_symbol":"ACTA1","hgnc_symbol":"ACTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:229566992-229569845","ensembl_id":"ENSG00000143632"}},"GRch38":{"90":{"location":"1:229431245-229434098","ensembl_id":"ENSG00000143632"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21514153"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800","Nemaline myopathy 3, MIM#161800","Myopathy, actin, congenital, with cores, MIM#161800"],"mode_of_inheritance":"BOTH monoallelic and 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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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11600","gene_name":"T-box 22","omim_gene":["300307"],"alias_name":null,"gene_symbol":"TBX22","hgnc_symbol":"TBX22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:79270255-79287268","ensembl_id":"ENSG00000122145"}},"GRch38":{"90":{"location":"X:80014756-80031769","ensembl_id":"ENSG00000122145"}}},"hgnc_date_symbol_changed":"2000-05-05"},"entity_type":"gene","entity_name":"TBX22","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Cleft palate with ankyloglossia, MIM #303400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRS1","UNQ2529","PX1"],"biotype":"protein_coding","hgnc_id":"HGNC:8599","gene_name":"pannexin 1","omim_gene":["608420"],"alias_name":["innexin"],"gene_symbol":"PANX1","hgnc_symbol":"PANX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:93862094-93915138","ensembl_id":"ENSG00000110218"}},"GRch38":{"90":{"location":"11:94128928-94181972","ensembl_id":"ENSG00000110218"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"PANX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30918116","32838805"],"evidence":["Expert Review Red","Genetic Health QLD"],"phenotypes":["Oocyte maturation defect 7, MIM# 618550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13187","gene_name":"zona pellucida glycoprotein 1","omim_gene":["195000"],"alias_name":null,"gene_symbol":"ZP1","hgnc_symbol":"ZP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:60635035-60643166","ensembl_id":"ENSG00000149506"}},"GRch38":{"90":{"location":"11:60867562-60875693","ensembl_id":"ENSG00000149506"}}},"hgnc_date_symbol_changed":"1999-12-10"},"entity_type":"gene","entity_name":"ZP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24670168","30810869","32573113","33272616"],"evidence":["Expert Review Red","Genetic Health QLD"],"phenotypes":["Oocyte maturation defect 1, MIM# 615774"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSTPIP","CD2BP1L","CD2BP1","CD2BP1S","H-PIP","PAPAS"],"biotype":"protein_coding","hgnc_id":"HGNC:9580","gene_name":"proline-serine-threonine phosphatase interacting protein 1","omim_gene":["606347"],"alias_name":["CD2 cytoplasmic tail-binding protein","CD2 antigen-binding protein 1","PEST phosphatase-interacting protein 1"],"gene_symbol":"PSTPIP1","hgnc_symbol":"PSTPIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:77285700-77329673","ensembl_id":"ENSG00000140368"}},"GRch38":{"90":{"location":"15:76993359-77037332","ensembl_id":"ENSG00000140368"}}},"hgnc_date_symbol_changed":"1999-01-12"},"entity_type":"gene","entity_name":"PSTPIP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Holoprosencephaly","Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25152457"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neu-Laxova syndrome 2, 616038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WAGR","WIT-2","AWT1","NPHS4"],"biotype":"protein_coding","hgnc_id":"HGNC:12796","gene_name":"Wilms tumor 1","omim_gene":["607102"],"alias_name":null,"gene_symbol":"WT1","hgnc_symbol":"WT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:32409321-32457176","ensembl_id":"ENSG00000184937"}},"GRch38":{"90":{"location":"11:32387775-32435630","ensembl_id":"ENSG00000184937"}}},"hgnc_date_symbol_changed":"1989-04-13"},"entity_type":"gene","entity_name":"WT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","NSW Health Pathology"],"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":["DKFZP564J0863"],"biotype":"protein_coding","hgnc_id":"HGNC:24526","gene_name":"atlastin GTPase 3","omim_gene":["609369"],"alias_name":null,"gene_symbol":"ATL3","hgnc_symbol":"ATL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:63391559-63439393","ensembl_id":"ENSG00000184743"}},"GRch38":{"90":{"location":"11:63624087-63671921","ensembl_id":"ENSG00000184743"}}},"hgnc_date_symbol_changed":"2008-09-17"},"entity_type":"gene","entity_name":"ATL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Literature"],"phenotypes":["# 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF","HSN1F"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3439,"hash_id":null,"name":"Autonomic neuropathy","disease_group":"Autonomic Neuropathy","disease_sub_group":"","description":"This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).","status":"public","version":"1.2","version_created":"2026-03-24T17:08:06.931372+11:00","relevant_disorders":["Abnormality of the autonomic nervous system HP:0002270"],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAAP250"],"biotype":"protein_coding","hgnc_id":"HGNC:23168","gene_name":"Fanconi anemia complementation group M","omim_gene":["609644"],"alias_name":null,"gene_symbol":"FANCM","hgnc_symbol":"FANCM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45605143-45670093","ensembl_id":"ENSG00000187790"}},"GRch38":{"90":{"location":"14:45135940-45200890","ensembl_id":"ENSG00000187790"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"FANCM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16116422","25078778","19423727"],"evidence":["Expert Review Red","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["refuted"],"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":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"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":["ActR-IIB"],"biotype":"protein_coding","hgnc_id":"HGNC:174","gene_name":"activin A receptor type 2B","omim_gene":["602730"],"alias_name":null,"gene_symbol":"ACVR2B","hgnc_symbol":"ACVR2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38495342-38534633","ensembl_id":"ENSG00000114739"}},"GRch38":{"90":{"location":"3:38453851-38493142","ensembl_id":"ENSG00000114739"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"ACVR2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["9916847","30622330","21864452"],"evidence":["Expert Review Red","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Heterotaxy, visceral, 4, autosomal 613751"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JM5","WIPI4","NBIA5"],"biotype":"protein_coding","hgnc_id":"HGNC:28912","gene_name":"WD repeat domain 45","omim_gene":["300526"],"alias_name":["neurodegeneration with brain iron accumulation 5"],"gene_symbol":"WDR45","hgnc_symbol":"WDR45","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48929385-48958108","ensembl_id":"ENSG00000196998"}},"GRch38":{"90":{"location":"X:49071470-49101170","ensembl_id":"ENSG00000196998"}}},"hgnc_date_symbol_changed":"2004-09-03"},"entity_type":"gene","entity_name":"WDR45","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30842224","23176820"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Neurodegeneration with brain iron accumulation 5, MIM# 300894","Rett syndrome","Rett-like phenotypes"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cipp"],"biotype":"protein_coding","hgnc_id":"HGNC:28881","gene_name":"PATJ, crumbs cell polarity complex component","omim_gene":["603199"],"alias_name":["inactivation-no-afterpotential D-like","Pals1-associated tight junction"],"gene_symbol":"PATJ","hgnc_symbol":"PATJ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:62208149-62629592","ensembl_id":"ENSG00000132849"}},"GRch38":{"90":{"location":"1:61742477-62178675","ensembl_id":"ENSG00000132849"}}},"hgnc_date_symbol_changed":"2016-02-22"},"entity_type":"gene","entity_name":"PATJ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40931526"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, PATJ-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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10887","gene_name":"SIX homeobox 1","omim_gene":["601205"],"alias_name":null,"gene_symbol":"SIX1","hgnc_symbol":"SIX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:61110133-61124977","ensembl_id":"ENSG00000126778"}},"GRch38":{"90":{"location":"14:60643415-60658259","ensembl_id":"ENSG00000126778"}}},"hgnc_date_symbol_changed":"1995-09-29"},"entity_type":"gene","entity_name":"SIX1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Deafness, autosomal dominant 23 (MIM# 605192)","Branchiootic syndrome 3 (MIM# 608389)"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-51K"],"biotype":"protein_coding","hgnc_id":"HGNC:7716","gene_name":"NADH:ubiquinone oxidoreductase core subunit V1","omim_gene":["161015"],"alias_name":["complex I 51kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"],"gene_symbol":"NDUFV1","hgnc_symbol":"NDUFV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67374323-67380006","ensembl_id":"ENSG00000167792"}},"GRch38":{"90":{"location":"11:67606852-67612535","ensembl_id":"ENSG00000167792"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"NDUFV1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["34807224"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 4 MIM#618225"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPOLB","HP55"],"biotype":"protein_coding","hgnc_id":"HGNC:9180","gene_name":"DNA polymerase gamma 2, accessory subunit","omim_gene":["604983"],"alias_name":null,"gene_symbol":"POLG2","hgnc_symbol":"POLG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62473902-62493154","ensembl_id":"ENSG00000256525"}},"GRch38":{"90":{"location":"17:64477785-64497036","ensembl_id":"ENSG00000256525"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"POLG2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16685652","21555342","27592148","31778857"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415","Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADE2H1","AIRC"],"biotype":"protein_coding","hgnc_id":"HGNC:8587","gene_name":"phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase","omim_gene":["172439"],"alias_name":null,"gene_symbol":"PAICS","hgnc_symbol":"PAICS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:57301907-57327534","ensembl_id":"ENSG00000128050"}},"GRch38":{"90":{"location":"4:56435741-56464579","ensembl_id":"ENSG00000128050"}}},"hgnc_date_symbol_changed":"1991-03-11"},"entity_type":"gene","entity_name":"PAICS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31600779"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["PAICS deficiency MONDO:0859003"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GB5"],"biotype":"protein_coding","hgnc_id":"HGNC:4401","gene_name":"G protein subunit beta 5","omim_gene":["604447"],"alias_name":null,"gene_symbol":"GNB5","hgnc_symbol":"GNB5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:52413117-52483566","ensembl_id":"ENSG00000069966"}},"GRch38":{"90":{"location":"15:52115105-52191369","ensembl_id":"ENSG00000069966"}}},"hgnc_date_symbol_changed":"1999-07-14"},"entity_type":"gene","entity_name":"GNB5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27523599","27677260","28697420","29368331"],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0014953","Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173)","Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EAD"],"biotype":"protein_coding","hgnc_id":"HGNC:2226","gene_name":"collagen like tail subunit of asymmetric acetylcholinesterase","omim_gene":["603033"],"alias_name":["single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase","collagenic tail of endplate acetylcholinesterase","AChE Q subunit","acetylcholinesterase-associated collagen"],"gene_symbol":"COLQ","hgnc_symbol":"COLQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:15491640-15563258","ensembl_id":"ENSG00000206561"}},"GRch38":{"90":{"location":"3:15450133-15521751","ensembl_id":"ENSG00000206561"}}},"hgnc_date_symbol_changed":"1998-09-14"},"entity_type":"gene","entity_name":"COLQ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["9689136","9758617","11865139","32978031","31831253"],"evidence":["Expert Review Red","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 5, MIM#603034"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLG3"],"biotype":"protein_coding","hgnc_id":"HGNC:7159","gene_name":"matrix metallopeptidase 13","omim_gene":["600108"],"alias_name":["collagenase 3"],"gene_symbol":"MMP13","hgnc_symbol":"MMP13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102813724-102826463","ensembl_id":"ENSG00000137745"}},"GRch38":{"90":{"location":"11:102942995-102955734","ensembl_id":"ENSG00000137745"}}},"hgnc_date_symbol_changed":"1994-11-20"},"entity_type":"gene","entity_name":"MMP13","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["19615667","24781753","24648384"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Metaphyseal anadysplasia 1 (MIM#602111)","Metaphyseal dysplasia, Spahr type (MIM#250400)"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPG49"],"biotype":"protein_coding","hgnc_id":"HGNC:20582","gene_name":"cytochrome P450 family 2 subfamily U member 1","omim_gene":["610670"],"alias_name":["spastic paraplegia 49"],"gene_symbol":"CYP2U1","hgnc_symbol":"CYP2U1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108852525-108874613","ensembl_id":"ENSG00000155016"}},"GRch38":{"90":{"location":"4:107931369-107953457","ensembl_id":"ENSG00000155016"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2U1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 56, autosomal recessive, MIM#615030"],"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":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ794I6.2","BTR1","NaBC1","FECD4"],"biotype":"protein_coding","hgnc_id":"HGNC:16438","gene_name":"solute carrier family 4 member 11","omim_gene":["610206"],"alias_name":null,"gene_symbol":"SLC4A11","hgnc_symbol":"SLC4A11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3208063-3219836","ensembl_id":"ENSG00000088836"}},"GRch38":{"90":{"location":"20:3227417-3239190","ensembl_id":"ENSG00000088836"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"SLC4A11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26451371","20118786","21203343"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268","Corneal endothelial dystrophy and perceptive deafness, MIM# 217400","Corneal endothelial dystrophy, autosomal recessive, MIM# 217700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4707","gene_name":"glycogen synthase 2","omim_gene":["138571"],"alias_name":null,"gene_symbol":"GYS2","hgnc_symbol":"GYS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21689123-21757781","ensembl_id":"ENSG00000111713"}},"GRch38":{"90":{"location":"12:21536189-21604847","ensembl_id":"ENSG00000111713"}}},"hgnc_date_symbol_changed":"1993-09-24"},"entity_type":"gene","entity_name":"GYS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18341095","32395408"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease 0, liver, 240600 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CANP3","p94","nCL-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1480","gene_name":"calpain 3","omim_gene":["114240"],"alias_name":null,"gene_symbol":"CAPN3","hgnc_symbol":"CAPN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:42640301-42704516","ensembl_id":"ENSG00000092529"}},"GRch38":{"90":{"location":"15:42359500-42412318","ensembl_id":"ENSG00000092529"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"CAPN3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600"],"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":["ASP","ACY2"],"biotype":"protein_coding","hgnc_id":"HGNC:756","gene_name":"aspartoacylase","omim_gene":["608034"],"alias_name":["aminoacylase 2","Canavan disease"],"gene_symbol":"ASPA","hgnc_symbol":"ASPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:3375668-3406713","ensembl_id":"ENSG00000108381"}},"GRch38":{"90":{"location":"17:3472374-3503419","ensembl_id":"ENSG00000108381"}}},"hgnc_date_symbol_changed":"1993-12-09"},"entity_type":"gene","entity_name":"ASPA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Canavan disease MIM#271900"],"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":["TM7LN4","TM7XN1"],"biotype":"protein_coding","hgnc_id":"HGNC:4512","gene_name":"adhesion G protein-coupled receptor G1","omim_gene":["604110"],"alias_name":null,"gene_symbol":"ADGRG1","hgnc_symbol":"ADGRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57644564-57698944","ensembl_id":"ENSG00000205336"}},"GRch38":{"90":{"location":"16:57610652-57665580","ensembl_id":"ENSG00000205336"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Polymicrogyria, bilateral frontoparietal, MIM#606854"],"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":["DKFZP434G232","LI2"],"biotype":"protein_coding","hgnc_id":"HGNC:14637","gene_name":"ATP binding cassette subfamily A member 12","omim_gene":["607800"],"alias_name":null,"gene_symbol":"ABCA12","hgnc_symbol":"ABCA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:215796266-216003151","ensembl_id":"ENSG00000144452"}},"GRch38":{"90":{"location":"2:214931542-215138428","ensembl_id":"ENSG00000144452"}}},"hgnc_date_symbol_changed":"2001-08-16"},"entity_type":"gene","entity_name":"ABCA12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 4A (MIM#601277)","Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)"],"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":["SNAP-25","RIC-4","RIC4","SEC9","bA416N4.2","dJ1068F16.2"],"biotype":"protein_coding","hgnc_id":"HGNC:11132","gene_name":"synaptosome associated protein 25","omim_gene":["600322"],"alias_name":["resistance to inhibitors of cholinesterase 4 homolog"],"gene_symbol":"SNAP25","hgnc_symbol":"SNAP25","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10199478-10288066","ensembl_id":"ENSG00000132639"}},"GRch38":{"90":{"location":"20:10218830-10307418","ensembl_id":"ENSG00000132639"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SNAP25","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301347"],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SNAP25-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX43","ODD","ODOD","SDTY3"],"biotype":"protein_coding","hgnc_id":"HGNC:4274","gene_name":"gap junction protein alpha 1","omim_gene":["121014"],"alias_name":["oculodentodigital dysplasia (syndactyly type III)","connexin 43"],"gene_symbol":"GJA1","hgnc_symbol":"GJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121756838-121770873","ensembl_id":"ENSG00000152661"}},"GRch38":{"90":{"location":"6:121435692-121449727","ensembl_id":"ENSG00000152661"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"GJA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Oculodentodigital dysplasia, autosomal recessive, MIM# 257850","Oculodentodigital dysplasia, MIM# 164200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17870","gene_name":"inversin","omim_gene":["243305"],"alias_name":["nephrocystin 2"],"gene_symbol":"INVS","hgnc_symbol":"INVS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:102861538-103063282","ensembl_id":"ENSG00000119509"}},"GRch38":{"90":{"location":"9:100099256-100301000","ensembl_id":"ENSG00000119509"}}},"hgnc_date_symbol_changed":"2002-06-11"},"entity_type":"gene","entity_name":"INVS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Nephronophthisis 2, infantile, (MIM#602088)"],"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":["HRIHFB2206","CTG-B45d","CTG-B43a"],"biotype":"protein_coding","hgnc_id":"HGNC:23194","gene_name":"THAP domain containing 11","omim_gene":["609119"],"alias_name":null,"gene_symbol":"THAP11","hgnc_symbol":"THAP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67876213-67878097","ensembl_id":"ENSG00000168286"}},"GRch38":{"90":{"location":"16:67842082-67844195","ensembl_id":"ENSG00000168286"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"THAP11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28449119"],"evidence":["Expert Review Red","Literature","Expert Review"],"phenotypes":["Methylmalonic aciduria, cblC type-like, MIM# 620940","Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SAMP32"],"biotype":"protein_coding","hgnc_id":"HGNC:14967","gene_name":"sperm acrosome associated 1","omim_gene":["612739"],"alias_name":null,"gene_symbol":"SPACA1","hgnc_symbol":"SPACA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88757507-88776550","ensembl_id":"ENSG00000118434"}},"GRch38":{"90":{"location":"6:88047789-88066832","ensembl_id":"ENSG00000118434"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"SPACA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["34172998","22949614"],"evidence":["Literature","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JH","HFE2A","RGMC","HJV","hemojuvelin","haemojuvelin"],"biotype":"protein_coding","hgnc_id":"HGNC:4887","gene_name":"hemochromatosis type 2 (juvenile)","omim_gene":["608374"],"alias_name":["repulsive guidance molecule c"],"gene_symbol":"HFE2","hgnc_symbol":"HFE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145413095-145417545","ensembl_id":"ENSG00000168509"}},"GRch38":{"90":{"location":"1:146017468-146036746","ensembl_id":"ENSG00000168509"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"HFE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hemochromatosis, type 2A, MIM# 602390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37431-Loss","verbose_name":"Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["12660952","14729829"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 17q11.2 deletion syndrome, MIM#613675","NF1 deletion syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[30835804,31891648],"tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been 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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37425-Gain","verbose_name":"Chromosome 5q35 duplication syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":["24819041"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Chromosome 5q35 duplication syndrome","microcephaly","failure to thrive","seizures"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"5","grch37_coordinates":null,"grch38_coordinates":[176301975,177586960],"tags":["SV/CNV"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37431-Loss","verbose_name":"Chromosome 17q11.2 deletion syndrome, NF1 deletion syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":"3","triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["12660952","14729829"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Chromosome 17q11.2 deletion syndrome, MIM#613675","NF1 deletion syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"17","grch37_coordinates":null,"grch38_coordinates":[30835804,31891648],"tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":null,"entity_type":"region","entity_name":"LMNB1 upstream region","verbose_name":"LMNB1 upstream region","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":null,"required_overlap_percentage":80,"type_of_variants":"cnv_loss","publications":["PMID: 30842973","30697589","25701871"],"evidence":["Literature","Literature"],"phenotypes":["Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"5","grch37_coordinates":null,"grch38_coordinates":[126522203,126689287],"tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"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":[]}},{"gene_data":null,"entity_type":"region","entity_name":"ISCA-37393-Gain","verbose_name":"Cat eye syndrome, 22q11.21 tetrasomy syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":[],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Cat eye syndrome, MIM#\t115470","coloboma","anal atresia","heart and renal malformations"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"22","grch37_coordinates":null,"grch38_coordinates":[16912063,18109094],"tags":["SV/CNV"],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. 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