{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=314","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=312","results":[{"gene_data":{"alias":["KIAA0645","DEP.5"],"biotype":"protein_coding","hgnc_id":"HGNC:18423","gene_name":"DEP domain containing 5","omim_gene":["614191"],"alias_name":null,"gene_symbol":"DEPDC5","hgnc_symbol":"DEPDC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32149944-32303012","ensembl_id":"ENSG00000100150"}},"GRch38":{"90":{"location":"22:31753951-31907034","ensembl_id":"ENSG00000100150"}}},"hgnc_date_symbol_changed":"2004-05-05"},"entity_type":"gene","entity_name":"DEPDC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["PMID: 36067010","32848577"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, DEPDC5-related, MONDO:0700092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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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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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1","omim_gene":["607100"],"alias_name":null,"gene_symbol":"NPHP1","hgnc_symbol":"NPHP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:110879888-110962643","ensembl_id":"ENSG00000144061"}},"GRch38":{"90":{"location":"2:110122311-110205066","ensembl_id":"ENSG00000144061"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"NPHP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15138899","32139166","28347285","8852662","9856524"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 4, MIM# 609583","Nephronophthisis 1, juvenile, MIM# 256100","Senior-Loken syndrome-1, MIM# 266900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNU12-1"],"biotype":null,"hgnc_id":"HGNC:19380","gene_name":"RNA, U12 small nuclear","omim_gene":null,"alias_name":["RNA, U12 small nuclear 1"],"gene_symbol":"RNU12","hgnc_symbol":"RNU12","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2009-11-04"},"entity_type":"gene","entity_name":"RNU12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34085356"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CDAGS syndrome MIM#603116","Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["15731757"],"evidence":["Expert Review Green","Literature"],"phenotypes":["LOEYS-DIETZ SYNDROME"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7108","gene_name":"McKusick-Kaufman syndrome","omim_gene":["604896"],"alias_name":null,"gene_symbol":"MKKS","hgnc_symbol":"MKKS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10381657-10414870","ensembl_id":"ENSG00000125863"}},"GRch38":{"90":{"location":"20:10401009-10434222","ensembl_id":"ENSG00000125863"}}},"hgnc_date_symbol_changed":"1998-09-08"},"entity_type":"gene","entity_name":"MKKS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["10973251","26900326","10973238"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 6 (MIM#605231)","McKusick-Kaufman syndrome (MIM#236700)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAQR1","ACDCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:24040","gene_name":"adiponectin receptor 1","omim_gene":["607945"],"alias_name":null,"gene_symbol":"ADIPOR1","hgnc_symbol":"ADIPOR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202909951-202927700","ensembl_id":"ENSG00000159346"}},"GRch38":{"90":{"location":"1:202940823-202958572","ensembl_id":"ENSG00000159346"}}},"hgnc_date_symbol_changed":"2004-06-23"},"entity_type":"gene","entity_name":"ADIPOR1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33523960"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Hypertrophic cardiomyopathy, MONDO:0005045, ADIPOR1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TMTSP"],"biotype":"protein_coding","hgnc_id":"HGNC:17754","gene_name":"thrombospondin type 1 domain containing 1","omim_gene":["616821"],"alias_name":null,"gene_symbol":"THSD1","hgnc_symbol":"THSD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52951305-52980629","ensembl_id":"ENSG00000136114"}},"GRch38":{"90":{"location":"13:52377167-52406494","ensembl_id":"ENSG00000136114"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"THSD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33569873","27895300"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lymphatic malformation 13, MIM# 620244"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. 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":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23962154","24882466","25352295","22266152"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Colitis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LIM15"],"biotype":"protein_coding","hgnc_id":"HGNC:2927","gene_name":"DNA meiotic recombinase 1","omim_gene":["602721"],"alias_name":null,"gene_symbol":"DMC1","hgnc_symbol":"DMC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38914954-38966291","ensembl_id":"ENSG00000100206"}},"GRch38":{"90":{"location":"22:38518949-38570286","ensembl_id":"ENSG00000100206"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"DMC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894, 18166824, 29331980, 9660954, 9660953"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary ovarian failure, MONDO:0005387, Azoospermia, MONDO:0100459, DMC1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11138011","12034785","31004048","15732097"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alexander disease, MIM#\t203450"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29051910","21073448","30793783"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12528"],"biotype":"protein_coding","hgnc_id":"HGNC:30740","gene_name":"threonyl-tRNA synthetase 2, mitochondrial (putative)","omim_gene":["612805"],"alias_name":["threonine tRNA ligase 2, mitochondrial"],"gene_symbol":"TARS2","hgnc_symbol":"TARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150459887-150480078","ensembl_id":"ENSG00000143374"}},"GRch38":{"90":{"location":"1:150487364-150507609","ensembl_id":"ENSG00000143374"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"TARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24827421","26811336","33153448","34508595"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 21, MIM# 615918"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["ENTK","MGC133046"],"biotype":"protein_coding","hgnc_id":"HGNC:9490","gene_name":"transmembrane protease, serine 15","omim_gene":["606635"],"alias_name":["proenterokinase","enteropeptidase"],"gene_symbol":"TMPRSS15","hgnc_symbol":"TMPRSS15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:19641433-19858197","ensembl_id":"ENSG00000154646"}},"GRch38":{"90":{"location":"21:18269116-18485879","ensembl_id":"ENSG00000154646"}}},"hgnc_date_symbol_changed":"2010-04-21"},"entity_type":"gene","entity_name":"TMPRSS15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11719902","33061943"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Enterokinase deficiency, MIM# 226200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["KIAA0634"],"biotype":"protein_coding","hgnc_id":"HGNC:17021","gene_name":"astrotactin 2","omim_gene":["612856"],"alias_name":null,"gene_symbol":"ASTN2","hgnc_symbol":"ASTN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:119187504-120177348","ensembl_id":"ENSG00000148219"}},"GRch38":{"90":{"location":"9:116425225-117415070","ensembl_id":"ENSG00000148219"}}},"hgnc_date_symbol_changed":"2001-10-18"},"entity_type":"gene","entity_name":"ASTN2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28940097","34412080","27138430"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ASTN2-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["MPS-1","MPS1","S27"],"biotype":"protein_coding","hgnc_id":"HGNC:10416","gene_name":"ribosomal protein S27","omim_gene":["603702"],"alias_name":["metallopanstimulin 1"],"gene_symbol":"RPS27","hgnc_symbol":"RPS27","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153963235-153964626","ensembl_id":"ENSG00000177954"}},"GRch38":{"90":{"location":"1:153990759-153992150","ensembl_id":"ENSG00000177954"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"RPS27","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25424902"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 17, MIM# 617409"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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:3607","gene_name":"fructose-bisphosphatase 2","omim_gene":["603027"],"alias_name":null,"gene_symbol":"FBP2","hgnc_symbol":"FBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97321002-97356075","ensembl_id":"ENSG00000130957"}},"GRch38":{"90":{"location":"9:94558720-94593793","ensembl_id":"ENSG00000130957"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"FBP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33977262"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Leukodystrophy, childhood-onset, remitting, MIM# 619864"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["cblA"],"biotype":"protein_coding","hgnc_id":"HGNC:18871","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblA type","omim_gene":["607481"],"alias_name":null,"gene_symbol":"MMAA","hgnc_symbol":"MMAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:146539415-146581187","ensembl_id":"ENSG00000151611"}},"GRch38":{"90":{"location":"4:145618263-145660035","ensembl_id":"ENSG00000151611"}}},"hgnc_date_symbol_changed":"2003-02-11"},"entity_type":"gene","entity_name":"MMAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"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":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group 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is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13912","PSF3"],"biotype":"protein_coding","hgnc_id":"HGNC:25851","gene_name":"GINS complex subunit 3","omim_gene":["610610"],"alias_name":null,"gene_symbol":"GINS3","hgnc_symbol":"GINS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58328984-58440048","ensembl_id":"ENSG00000181938"}},"GRch38":{"90":{"location":"16:58295080-58406144","ensembl_id":"ENSG00000181938"}}},"hgnc_date_symbol_changed":"2006-05-04"},"entity_type":"gene","entity_name":"GINS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35603789"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Meier-Gorlin syndrome 9, MIM# 621512"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RTS","CBP","KAT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:2348","gene_name":"CREB binding protein","omim_gene":["600140"],"alias_name":null,"gene_symbol":"CREBBP","hgnc_symbol":"CREBBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3775055-3930727","ensembl_id":"ENSG00000005339"}},"GRch38":{"90":{"location":"16:3725054-3880726","ensembl_id":"ENSG00000005339"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"CREBBP","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["27311832","29460469","24989455"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Menke-Hennekam syndrome 1(MIM#618332)","Rubinstein-Taybi syndrome 1(MIM#180849)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1967","gene_name":"cholinergic receptor nicotinic gamma subunit","omim_gene":["100730"],"alias_name":["acetylcholine receptor, nicotinic, gamma (muscle)"],"gene_symbol":"CHRNG","hgnc_symbol":"CHRNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:233404437-233411113","ensembl_id":"ENSG00000196811"}},"GRch38":{"90":{"location":"2:232539727-232546403","ensembl_id":"ENSG00000196811"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHRNG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16826520","16826531","22167768"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Escobar syndrome, MIM# 265000","Multiple pterygium syndrome, lethal type, MIM# 253290","MONDO:0009926","MONDO:0009668"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia 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GMS","Expert Review Green","Expert list"],"phenotypes":["Megaloblastic anemia-1, Norwegian type, MIM#261100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SUV3"],"biotype":"protein_coding","hgnc_id":"HGNC:11471","gene_name":"Suv3 like RNA helicase","omim_gene":["605122"],"alias_name":null,"gene_symbol":"SUPV3L1","hgnc_symbol":"SUPV3L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70939988-70968855","ensembl_id":"ENSG00000156502"}},"GRch38":{"90":{"location":"10:69180232-69209099","ensembl_id":"ENSG00000156502"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"SUPV3L1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39596606","35023579"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Mitochondrial disease, MONDO:0044970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NOT56L","Not56","CDGS4","D16Ertd36e"],"biotype":"protein_coding","hgnc_id":"HGNC:23056","gene_name":"ALG3, alpha-1,3- mannosyltransferase","omim_gene":["608750"],"alias_name":["carbohydrate deficient glycoprotein syndrome type IV","dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase","dol-P-Man dependent alpha-1,3- mannosyltransferase"],"gene_symbol":"ALG3","hgnc_symbol":"ALG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183960089-183967336","ensembl_id":"ENSG00000214160"}},"GRch38":{"90":{"location":"3:184242301-184249548","ensembl_id":"ENSG00000214160"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type Id, 601110 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS707","TE2"],"biotype":"protein_coding","hgnc_id":"HGNC:18704","gene_name":"N(alpha)-acetyltransferase 10, NatA catalytic subunit","omim_gene":["300013"],"alias_name":null,"gene_symbol":"NAA10","hgnc_symbol":"NAA10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153194695-153200676","ensembl_id":"ENSG00000102030"}},"GRch38":{"90":{"location":"X:153929242-153935223","ensembl_id":"ENSG00000102030"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["N-terminal acetyltransferase deficiency, 300855 (3)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12718","gene_name":"vaccinia related kinase 1","omim_gene":["602168"],"alias_name":null,"gene_symbol":"VRK1","hgnc_symbol":"VRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:97263641-97398059","ensembl_id":"ENSG00000100749"}},"GRch38":{"90":{"location":"14:96797304-96931722","ensembl_id":"ENSG00000100749"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"VRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia type 1A, 607596 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TEL1","TELO1"],"biotype":"protein_coding","hgnc_id":"HGNC:795","gene_name":"ATM serine/threonine kinase","omim_gene":["607585"],"alias_name":["TEL1, telomere maintenance 1, homolog (S. cerevisiae)"],"gene_symbol":"ATM","hgnc_symbol":"ATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108093211-108239829","ensembl_id":"ENSG00000149311"}},"GRch38":{"90":{"location":"11:108222484-108369102","ensembl_id":"ENSG00000149311"}}},"hgnc_date_symbol_changed":"1995-07-07"},"entity_type":"gene","entity_name":"ATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ataxia-telangiectasia, 208900 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peters-plus syndrome, 261540 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HOT7T175","AXOR12"],"biotype":"protein_coding","hgnc_id":"HGNC:4510","gene_name":"KISS1 receptor","omim_gene":["604161"],"alias_name":null,"gene_symbol":"KISS1R","hgnc_symbol":"KISS1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}},"GRch38":{"90":{"location":"19:917287-921015","ensembl_id":"ENSG00000116014"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"KISS1R","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23349759, 22619348, 21193544, 17164310, 14573733, 27094476, 33819414"],"evidence":["Expert Review Red","Expert List"],"phenotypes":["Hypogonadotropic hypogonadism 8 with or without anosmia, MIM# 614837"],"mode_of_inheritance":"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":["HGF","GF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11187","gene_name":"SOS Ras/Rac guanine nucleotide exchange factor 1","omim_gene":["182530"],"alias_name":null,"gene_symbol":"SOS1","hgnc_symbol":"SOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:39208537-39351486","ensembl_id":"ENSG00000115904"}},"GRch38":{"90":{"location":"2:38981396-39124345","ensembl_id":"ENSG00000115904"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29907801"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Noonan syndrome 4 610733"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3181,"hash_id":null,"name":"Vascular Malformations_Somatic","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause vascular malformations as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nIf a germline disorder is suspected, please use the Vascular Malformations_Germline panel.","status":"public","version":"1.16","version_created":"2025-10-02T12:54:21.549968+10:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":25,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PAP-A","PAPA","PAPA1","PAPB","ACLS","PPDIV"],"biotype":"protein_coding","hgnc_id":"HGNC:4319","gene_name":"GLI family zinc finger 3","omim_gene":["165240"],"alias_name":["zinc finger protein GLI3","oncogene GLI3","DNA-binding protein"],"gene_symbol":"GLI3","hgnc_symbol":"GLI3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:42000548-42277469","ensembl_id":"ENSG00000106571"}},"GRch38":{"90":{"location":"7:41960950-42237870","ensembl_id":"ENSG00000106571"}}},"hgnc_date_symbol_changed":"1989-05-29"},"entity_type":"gene","entity_name":"GLI3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24736735","15739154","9054938 10945658 11693785"],"evidence":["Expert Review Green","Genomics England PanelApp","Genomics England PanelApp"],"phenotypes":["Greig cephalopolysyndactyly syndrome (175700)","Pallister-Hall syndrome (146510)"],"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":["M-RAs","R-RAS3","RRAS3"],"biotype":"protein_coding","hgnc_id":"HGNC:7227","gene_name":"muscle RAS oncogene homolog","omim_gene":["608435"],"alias_name":null,"gene_symbol":"MRAS","hgnc_symbol":"MRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:138066539-138124375","ensembl_id":"ENSG00000158186"}},"GRch38":{"90":{"location":"3:138347648-138405534","ensembl_id":"ENSG00000158186"}}},"hgnc_date_symbol_changed":"1999-09-29"},"entity_type":"gene","entity_name":"MRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28289718","31173466","31108500","31173466"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Noonan syndrome, MIM#618499"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HGPS","MADA"],"biotype":"protein_coding","hgnc_id":"HGNC:6636","gene_name":"lamin A/C","omim_gene":["150330"],"alias_name":["mandibuloacral dysplasia type A"],"gene_symbol":"LMNA","hgnc_symbol":"LMNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156052364-156109880","ensembl_id":"ENSG00000160789"}},"GRch38":{"90":{"location":"1:156082573-156140089","ensembl_id":"ENSG00000160789"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"LMNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15148145","18551513","15622532"],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, dilated, 1A","Emery-Dreifuss muscular dystrophy 2, AD, 181350","Congenital Muscular Dystrophy, LMNA-related (Dominant)","Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GP91-PHOX","NOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:2578","gene_name":"cytochrome b-245 beta chain","omim_gene":["300481"],"alias_name":["NADPH oxidase 2"],"gene_symbol":"CYBB","hgnc_symbol":"CYBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:37639264-37672714","ensembl_id":"ENSG00000165168"}},"GRch38":{"90":{"location":"X:37780011-37813461","ensembl_id":"ENSG00000165168"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Chronic granulomatous disease"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4796","gene_name":"3-hydroxyanthranilate 3,4-dioxygenase","omim_gene":["604521"],"alias_name":null,"gene_symbol":"HAAO","hgnc_symbol":"HAAO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:42994229-43019733","ensembl_id":"ENSG00000162882"}},"GRch38":{"90":{"location":"2:42767089-42792593","ensembl_id":"ENSG00000162882"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"HAAO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28792876","33942433"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660","NAD deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4180","gene_name":"1,4-alpha-glucan branching enzyme 1","omim_gene":["607839"],"alias_name":["glycogen branching enzyme","Andersen disease","glycogen storage disease type IV"],"gene_symbol":"GBE1","hgnc_symbol":"GBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:81538850-81811312","ensembl_id":"ENSG00000114480"}},"GRch38":{"90":{"location":"3:81489699-81762161","ensembl_id":"ENSG00000114480"}}},"hgnc_date_symbol_changed":"1993-06-21"},"entity_type":"gene","entity_name":"GBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21620786","30303820"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Fetal akinesia deformation sequence","Glycogen storage disease IV, OMIM:232500"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21102625"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Aicardi-Goutieres syndrome 5, MIM#612952"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20551"],"biotype":"protein_coding","hgnc_id":"HGNC:26054","gene_name":"solute carrier family 25 member 38","omim_gene":["610819"],"alias_name":null,"gene_symbol":"SLC25A38","hgnc_symbol":"SLC25A38","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39424839-39438842","ensembl_id":"ENSG00000144659"}},"GRch38":{"90":{"location":"3:39383348-39397351","ensembl_id":"ENSG00000144659"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"SLC25A38","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19412178","31338833","34298585"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM#205950"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JDP1"],"biotype":"protein_coding","hgnc_id":"HGNC:28908","gene_name":"DnaJ heat shock protein family (Hsp40) member C12","omim_gene":["606060"],"alias_name":["J domain protein 1"],"gene_symbol":"DNAJC12","hgnc_symbol":"DNAJC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69556427-69597924","ensembl_id":"ENSG00000108176"}},"GRch38":{"90":{"location":"10:67796665-67838166","ensembl_id":"ENSG00000108176"}}},"hgnc_date_symbol_changed":"2004-04-15"},"entity_type":"gene","entity_name":"DNAJC12","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BETA-4"],"biotype":"protein_coding","hgnc_id":"HGNC:572","gene_name":"adaptor related protein complex 4 beta 1 subunit","omim_gene":["607245"],"alias_name":["beta 4 subunit of AP-4","AP-4 complex subunit beta-1"],"gene_symbol":"AP4B1","hgnc_symbol":"AP4B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:114437370-114447823","ensembl_id":"ENSG00000134262"}},"GRch38":{"90":{"location":"1:113894748-113905201","ensembl_id":"ENSG00000134262"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21620353","22290197","24700674","24781758","32979048","32171285","32166732","31525725","31525725"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 47, autosomal recessive, OMIM:614066","Hereditary spastic paraplegia 47, MONDO:0013551"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LZ16","T13"],"biotype":"protein_coding","hgnc_id":"HGNC:21316","gene_name":"ankyrin repeat domain 11","omim_gene":["611192"],"alias_name":null,"gene_symbol":"ANKRD11","hgnc_symbol":"ANKRD11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89334038-89556969","ensembl_id":"ENSG00000167522"}},"GRch38":{"90":{"location":"16:89267627-89490561","ensembl_id":"ENSG00000167522"}}},"hgnc_date_symbol_changed":"2004-01-15"},"entity_type":"gene","entity_name":"ANKRD11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21782149","33461977"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["KBG syndrome, MIM# 148050"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFI-RED","NFIB2","NFIB3"],"biotype":"protein_coding","hgnc_id":"HGNC:7785","gene_name":"nuclear factor I B","omim_gene":["600728"],"alias_name":null,"gene_symbol":"NFIB","hgnc_symbol":"NFIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14081842-14398982","ensembl_id":"ENSG00000147862"}},"GRch38":{"90":{"location":"9:14081843-14398983","ensembl_id":"ENSG00000147862"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30388402","33130023","32902921"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Macrocephaly, acquired, with impaired intellectual development - MIM#618286"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:719","gene_name":"arylsulfatase E (chondrodysplasia punctata 1)","omim_gene":["300180"],"alias_name":null,"gene_symbol":"ARSE","hgnc_symbol":"ARSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:2852699-2886286","ensembl_id":"ENSG00000157399"}},"GRch38":{"90":{"location":"X:2934632-2968310","ensembl_id":"ENSG00000157399"}}},"hgnc_date_symbol_changed":"1995-04-26"},"entity_type":"gene","entity_name":"ARSE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Chondrodysplasia punctata, X-linked recessive, MIM# 302950"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPHS5"],"biotype":"protein_coding","hgnc_id":"HGNC:6487","gene_name":"laminin subunit beta 2","omim_gene":["150325"],"alias_name":["laminin S"],"gene_symbol":"LAMB2","hgnc_symbol":"LAMB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49158547-49170551","ensembl_id":"ENSG00000172037"}},"GRch38":{"90":{"location":"3:49121114-49133118","ensembl_id":"ENSG00000172037"}}},"hgnc_date_symbol_changed":"1992-05-06"},"entity_type":"gene","entity_name":"LAMB2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16450351"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pierson syndrome-MIM#609049","Nephrotic syndrome, type 5, with or without ocular abnormalities-MIM#614199"],"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":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9330","gene_name":"polyglutamine binding protein 1","omim_gene":["300463"],"alias_name":null,"gene_symbol":"PQBP1","hgnc_symbol":"PQBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48755195-48760420","ensembl_id":"ENSG00000102103"}},"GRch38":{"90":{"location":"X:48897912-48903143","ensembl_id":"ENSG00000102103"}}},"hgnc_date_symbol_changed":"1999-01-12"},"entity_type":"gene","entity_name":"PQBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31840929","14634649","20410308"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Renpenning syndrome, MIM#309500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAC","FA3"],"biotype":"protein_coding","hgnc_id":"HGNC:3584","gene_name":"Fanconi anemia complementation group C","omim_gene":["613899"],"alias_name":null,"gene_symbol":"FANCC","hgnc_symbol":"FANCC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97861336-98079991","ensembl_id":"ENSG00000158169"}},"GRch38":{"90":{"location":"9:95099054-95426796","ensembl_id":"ENSG00000158169"}}},"hgnc_date_symbol_changed":"1992-11-25"},"entity_type":"gene","entity_name":"FANCC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0009213","Fanconi anemia, complementation group C, MIM# 227645"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LOC124512"],"biotype":"protein_coding","hgnc_id":"HGNC:26988","gene_name":"methyltransferase like 23","omim_gene":["615262"],"alias_name":null,"gene_symbol":"METTL23","hgnc_symbol":"METTL23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74722912-74730018","ensembl_id":"ENSG00000181038"}},"GRch38":{"90":{"location":"17:76726830-76733936","ensembl_id":"ENSG00000181038"}}},"hgnc_date_symbol_changed":"2011-03-03"},"entity_type":"gene","entity_name":"METTL23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24501276","24626631","39152716","32878022","32439618","32067349"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 44, MIM #615942"],"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":["ORF20","TTDN1"],"biotype":"protein_coding","hgnc_id":"HGNC:16002","gene_name":"M-phase specific PLK1 interacting protein","omim_gene":["609188"],"alias_name":null,"gene_symbol":"MPLKIP","hgnc_symbol":"MPLKIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40165622-40174258","ensembl_id":"ENSG00000168303"}},"GRch38":{"90":{"location":"7:40126023-40134659","ensembl_id":"ENSG00000168303"}}},"hgnc_date_symbol_changed":"2012-03-01"},"entity_type":"gene","entity_name":"MPLKIP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15645389","16977596"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive MIM#234050"],"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:12718","gene_name":"vaccinia related kinase 1","omim_gene":["602168"],"alias_name":null,"gene_symbol":"VRK1","hgnc_symbol":"VRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:97263641-97398059","ensembl_id":"ENSG00000100749"}},"GRch38":{"90":{"location":"14:96797304-96931722","ensembl_id":"ENSG00000100749"}}},"hgnc_date_symbol_changed":"1997-06-12"},"entity_type":"gene","entity_name":"VRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38554151","19646678","21937992","25609612","24126608","27281532","34169149","26583493"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866","Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542"],"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:4214","gene_name":"growth differentiation factor 1","omim_gene":["602880"],"alias_name":null,"gene_symbol":"GDF1","hgnc_symbol":"GDF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18979361-19006905","ensembl_id":"ENSG00000130283"}},"GRch38":{"90":{"location":"19:18868545-18896096","ensembl_id":"ENSG00000130283"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"GDF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32144877","20413652","28991257"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital heart defects, multiple types, 6 MIM#613854","Right atrial isomerism (Ivemark), MIM #208530"],"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":["CLC4","ClC-4"],"biotype":"protein_coding","hgnc_id":"HGNC:2022","gene_name":"chloride voltage-gated channel 4","omim_gene":["302910"],"alias_name":null,"gene_symbol":"CLCN4","hgnc_symbol":"CLCN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:10125024-10205700","ensembl_id":"ENSG00000073464"}},"GRch38":{"90":{"location":"X:10156945-10237660","ensembl_id":"ENSG00000073464"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"CLCN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27550844","33951195","25644381","34479510","37409888"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Raynaud-Claes syndrome, MIM #300114"],"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":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":["HBGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3681","gene_name":"fibroblast growth factor 3","omim_gene":["164950"],"alias_name":["INT-2 proto-oncogene protein","oncogene INT2","V-INT2 murine mammary tumor virus integration site oncogene homolog","murine mammary tumor virus integration site 2, mouse"],"gene_symbol":"FGF3","hgnc_symbol":"FGF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69624992-69633792","ensembl_id":"ENSG00000186895"}},"GRch38":{"90":{"location":"11:69810224-69819024","ensembl_id":"ENSG00000186895"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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":["JCL-1","BCG1","11B6","MAGE-D2","HCA10","MAGED","MGC8386"],"biotype":"protein_coding","hgnc_id":"HGNC:16353","gene_name":"MAGE family member D2","omim_gene":["300470"],"alias_name":["hepatocellular carcinoma associated protein","breast cancer associated gene 1","melanoma-associated antigen D2","hepatocellular carcinoma-associated protein HCA10"],"gene_symbol":"MAGED2","hgnc_symbol":"MAGED2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54834032-54842445","ensembl_id":"ENSG00000102316"}},"GRch38":{"90":{"location":"X:54807599-54816012","ensembl_id":"ENSG00000102316"}}},"hgnc_date_symbol_changed":"2001-08-16"},"entity_type":"gene","entity_name":"MAGED2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34895150","35668994","27120771"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bartter syndrome, type 5, antenatal, transient, MIM# 300971"],"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":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD42b","GPIbalpha"],"biotype":"protein_coding","hgnc_id":"HGNC:4439","gene_name":"glycoprotein Ib platelet alpha subunit","omim_gene":["606672"],"alias_name":["platelet glycoprotein Ib alpha chain"],"gene_symbol":"GP1BA","hgnc_symbol":"GP1BA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4835592-4838325","ensembl_id":"ENSG00000185245"}},"GRch38":{"90":{"location":"17:4932297-4935030","ensembl_id":"ENSG00000185245"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"GP1BA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24934643"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0007930","MONDO:0008332","Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS)","von Willebrand disease, platelet-type, (MIM#177820), AD (VWD)","Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRSP77","TRAP80","DRIP80","SRB4"],"biotype":"protein_coding","hgnc_id":"HGNC:2375","gene_name":"mediator complex subunit 17","omim_gene":["603810"],"alias_name":null,"gene_symbol":"MED17","hgnc_symbol":"MED17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:93517393-93547861","ensembl_id":"ENSG00000042429"}},"GRch38":{"90":{"location":"11:93784227-93814963","ensembl_id":"ENSG00000042429"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30345598","33756211","20950787"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p50","Bp50"],"biotype":"protein_coding","hgnc_id":"HGNC:11919","gene_name":"CD40 molecule","omim_gene":["109535"],"alias_name":null,"gene_symbol":"CD40","hgnc_symbol":"CD40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44746911-44758502","ensembl_id":"ENSG00000101017"}},"GRch38":{"90":{"location":"20:46118272-46129863","ensembl_id":"ENSG00000101017"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency with hyper-IgM, type 3, MIM# 606843"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FP","SDHF"],"biotype":"protein_coding","hgnc_id":"HGNC:10680","gene_name":"succinate dehydrogenase complex flavoprotein subunit A","omim_gene":["600857"],"alias_name":["succinate dehydrogenase [ubiquinone] flavoprotein subunit","flavoprotein subunit of complex II"],"gene_symbol":"SDHA","hgnc_symbol":"SDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:218356-256815","ensembl_id":"ENSG00000073578"}},"GRch38":{"90":{"location":"5:218241-256700","ensembl_id":"ENSG00000073578"}}},"hgnc_date_symbol_changed":"1995-10-24"},"entity_type":"gene","entity_name":"SDHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Pituitary tumor, MONDO:0017611","Pituitary gland adenoma, MONDO:0006373","Hereditary pheochromocytoma-paraganglioma, MONDO:0017366","Pheochromocytoma/paraganglioma syndrome 5, MIM#614165"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4364,"hash_id":null,"name":"Pituitary Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with pituitary tumour. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with pituitary tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:34:15.754213+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]}]}