{"count":36083,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=144","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=142","results":[{"gene_data":{"alias":["FLJ20277","MGAT1.2","LGMD2O"],"biotype":"protein_coding","hgnc_id":"HGNC:19139","gene_name":"protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)","omim_gene":["606822"],"alias_name":["protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"],"gene_symbol":"POMGNT1","hgnc_symbol":"POMGNT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:46654354-46685977","ensembl_id":"ENSG00000085998"}},"GRch38":{"90":{"location":"1:46188682-46220305","ensembl_id":"ENSG00000085998"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"POMGNT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":6,"hash_id":null,"name":"Cobblestone Malformations","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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It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.207","version_created":"2026-04-23T11:38:11.019015+10:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEB177D"],"biotype":"protein_coding","hgnc_id":"HGNC:7720","gene_name":"nebulin","omim_gene":["161650"],"alias_name":["nemaline myopathy type 2"],"gene_symbol":"NEB","hgnc_symbol":"NEB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152341850-152591001","ensembl_id":"ENSG00000183091"}},"GRch38":{"90":{"location":"2:151485336-151734487","ensembl_id":"ENSG00000183091"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10051637","22367672","26578207","33376055"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis multiplex congenita 6, MIM# 619334"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIP4"],"biotype":"protein_coding","hgnc_id":"HGNC:1550","gene_name":"cystathionine-beta-synthase","omim_gene":["613381"],"alias_name":null,"gene_symbol":"CBS","hgnc_symbol":"CBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44473301-44497053","ensembl_id":"ENSG00000160200"}},"GRch38":{"90":{"location":"21:43053191-43076943","ensembl_id":"ENSG00000160200"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7506602","10338090","7967489"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Thrombosis, hyperhomocysteinemic, MIM# 236200","Homocystinuria, B6-responsive and nonresponsive types, MIM# 236200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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 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maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.86","version_created":"2026-04-24T16:54:13.705855+10:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFH-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3801","gene_name":"forkhead box C2","omim_gene":["602402"],"alias_name":["mesenchyme forkhead 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variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.","status":"public","version":"1.18","version_created":"2025-11-21T16:59:26.431729+11:00","relevant_disorders":["Congenital diaphragmatic hernia HP:0000776"],"stats":{"number_of_genes":49,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12718","gene_name":"vaccinia related kinase 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both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LIN2","CAGH39","FGS4"],"biotype":"protein_coding","hgnc_id":"HGNC:1497","gene_name":"calcium/calmodulin dependent serine protein kinase","omim_gene":["300172"],"alias_name":null,"gene_symbol":"CASK","hgnc_symbol":"CASK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41374187-41782716","ensembl_id":"ENSG00000147044"}},"GRch38":{"90":{"location":"X:41514934-41923463","ensembl_id":"ENSG00000147044"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"CASK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22728","SDR10E1"],"biotype":"protein_coding","hgnc_id":"HGNC:26222","gene_name":"fatty acyl-CoA reductase 1","omim_gene":["616107"],"alias_name":["short chain dehydrogenase/reductase family 10E, member 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disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. 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 Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EJM4"],"biotype":"protein_coding","hgnc_id":"HGNC:1404","gene_name":"calcium voltage-gated channel auxiliary subunit beta 4","omim_gene":["601949"],"alias_name":null,"gene_symbol":"CACNB4","hgnc_symbol":"CACNB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:152689290-152955593","ensembl_id":"ENSG00000182389"}},"GRch38":{"90":{"location":"2:151832768-152099475","ensembl_id":"ENSG00000182389"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CACNB4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["10762541","9628818","27003325"],"evidence":["Expert Review Red","Expert list","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia, type 5, MIM#613855"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":74,"hash_id":null,"name":"Brain Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea.  The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.","status":"public","version":"1.5","version_created":"2025-10-16T17:46:30.269069+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TBDN100","NATH","FLJ13340"],"biotype":"protein_coding","hgnc_id":"HGNC:30782","gene_name":"N(alpha)-acetyltransferase 15, NatA auxiliary subunit","omim_gene":["608000"],"alias_name":null,"gene_symbol":"NAA15","hgnc_symbol":"NAA15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:140222609-140341187","ensembl_id":"ENSG00000164134"}},"GRch38":{"90":{"location":"4:139301455-139420033","ensembl_id":"ENSG00000164134"}}},"hgnc_date_symbol_changed":"2010-01-14"},"entity_type":"gene","entity_name":"NAA15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33103328","29656860","31127942","28191889","33557580","28990276"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Dnahc5","HL1","PCD","CILD3","KTGNR"],"biotype":"protein_coding","hgnc_id":"HGNC:2950","gene_name":"dynein axonemal heavy chain 5","omim_gene":["603335"],"alias_name":["dynein heavy chain 5"],"gene_symbol":"DNAH5","hgnc_symbol":"DNAH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:13690440-13944652","ensembl_id":"ENSG00000039139"}},"GRch38":{"90":{"location":"5:13690331-13944543","ensembl_id":"ENSG00000039139"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH5","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31638833"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart 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sphingomyelinase"],"gene_symbol":"SMPD1","hgnc_symbol":"SMPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6411655-6416228","ensembl_id":"ENSG00000166311"}},"GRch38":{"90":{"location":"11:6390431-6394998","ensembl_id":"ENSG00000166311"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SMPD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Niemann-Pick disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TGX"],"biotype":"protein_coding","hgnc_id":"HGNC:11781","gene_name":"transglutaminase 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Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MEF","ELFR"],"biotype":"protein_coding","hgnc_id":"HGNC:3319","gene_name":"E74 like ETS transcription factor 4","omim_gene":["300775"],"alias_name":null,"gene_symbol":"ELF4","hgnc_symbol":"ELF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129198849-129244691","ensembl_id":"ENSG00000102034"}},"GRch38":{"90":{"location":"X:130064874-130110716","ensembl_id":"ENSG00000102034"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"ELF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38231408"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MIM#301074)"],"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":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":["HEB","HTF4","HsT17266","bHLHb20"],"biotype":"protein_coding","hgnc_id":"HGNC:11623","gene_name":"transcription factor 12","omim_gene":["600480"],"alias_name":["helix-loop-helix transcription factor 4"],"gene_symbol":"TCF12","hgnc_symbol":"TCF12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:57210821-57591479","ensembl_id":"ENSG00000140262"}},"GRch38":{"90":{"location":"15:56918623-57299281","ensembl_id":"ENSG00000140262"}}},"hgnc_date_symbol_changed":"1994-06-17"},"entity_type":"gene","entity_name":"TCF12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23354436","32620954"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Craniosynostosis 3, MIM# 615314","Hypogonadotropic hypogonadism 26 with or without anosmia, MIM# 619718","Kallman syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ECM39","CDG1G"],"biotype":"protein_coding","hgnc_id":"HGNC:19358","gene_name":"ALG12, alpha-1,6-mannosyltransferase","omim_gene":["607144"],"alias_name":["dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase","dol-P-Man dependent alpha-1,6-mannosyltransferase"],"gene_symbol":"ALG12","hgnc_symbol":"ALG12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50293877-50312106","ensembl_id":"ENSG00000182858"}},"GRch38":{"90":{"location":"22:49900229-49918458","ensembl_id":"ENSG00000182858"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31481313"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ig, MIM# 607143"],"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":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21918"],"biotype":"protein_coding","hgnc_id":"HGNC:26152","gene_name":"epithelial splicing regulatory protein 2","omim_gene":["612960"],"alias_name":null,"gene_symbol":"ESRP2","hgnc_symbol":"ESRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68263014-68272005","ensembl_id":"ENSG00000103067"}},"GRch38":{"90":{"location":"16:68229111-68238102","ensembl_id":"ENSG00000103067"}}},"hgnc_date_symbol_changed":"2009-03-10"},"entity_type":"gene","entity_name":"ESRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29805042","39179789","33234718","41111330"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Orofacial cleft MONDO:0000358, ESRP2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluN1"],"biotype":"protein_coding","hgnc_id":"HGNC:4584","gene_name":"glutamate ionotropic receptor NMDA type subunit 1","omim_gene":["138249"],"alias_name":null,"gene_symbol":"GRIN1","hgnc_symbol":"GRIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140032842-140063207","ensembl_id":"ENSG00000176884"}},"GRch38":{"90":{"location":"9:137138390-137168762","ensembl_id":"ENSG00000176884"}}},"hgnc_date_symbol_changed":"1992-09-18"},"entity_type":"gene","entity_name":"GRIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29365063","27164704","27164704","28051072"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["GRIN1-related complex neurodevelopmental disorder MONDO:1060123","Developmental and epileptic encephalopathy 101, MIM#\t619814","Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254","Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["K2p18.1","TRESK-2","TRESK2","TRESK","TRIK"],"biotype":"protein_coding","hgnc_id":"HGNC:19439","gene_name":"potassium two pore domain channel subfamily K member 18","omim_gene":["613655"],"alias_name":["TWIK related spinal cord K+ channel"],"gene_symbol":"KCNK18","hgnc_symbol":"KCNK18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:118957000-118969810","ensembl_id":"ENSG00000186795"}},"GRch38":{"90":{"location":"10:117197489-117210299","ensembl_id":"ENSG00000186795"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"KCNK18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20871611","32394190","30573346","23904616","22355750"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Migraine, with or without aura, susceptibility to, 13}, MIM# 613656"],"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":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PFM2"],"biotype":"protein_coding","hgnc_id":"HGNC:9349","gene_name":"PR/SET domain 5","omim_gene":["614161"],"alias_name":null,"gene_symbol":"PRDM5","hgnc_symbol":"PRDM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:121606074-121844025","ensembl_id":"ENSG00000138738"}},"GRch38":{"90":{"location":"4:120684919-120922870","ensembl_id":"ENSG00000138738"}}},"hgnc_date_symbol_changed":"1999-08-23"},"entity_type":"gene","entity_name":"PRDM5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21664999","22122778","21664999","33739556","27032025"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brittle cornea syndrome 2, MIM# 614170"],"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":"1.4804","version_created":"2026-04-27T18:57:48.500873+10:00","relevant_disorders":[],"stats":{"number_of_genes":6017,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT019","P105","GKLP","NKTL","TAPK","TRAP","TEIF","MGC78454"],"biotype":"protein_coding","hgnc_id":"HGNC:14372","gene_name":"SCY1 like pseudokinase 1","omim_gene":["607982"],"alias_name":["teratoma-associated tyrosine kinase","telomerase transcriptional elements-interacting factor","telomerase regulation-associated protein"],"gene_symbol":"SCYL1","hgnc_symbol":"SCYL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65292548-65306175","ensembl_id":"ENSG00000142186"}},"GRch38":{"90":{"location":"11:65525077-65538704","ensembl_id":"ENSG00000142186"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"SCYL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29419818","17571074","26581903","30531813"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0339","Set1","KMT2F"],"biotype":"protein_coding","hgnc_id":"HGNC:29010","gene_name":"SET domain containing 1A","omim_gene":["611052"],"alias_name":null,"gene_symbol":"SETD1A","hgnc_symbol":"SETD1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30968615-30996437","ensembl_id":"ENSG00000099381"}},"GRch38":{"90":{"location":"16:30957294-30984664","ensembl_id":"ENSG00000099381"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"SETD1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31197650","32346159"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, early-onset, with or without developmental delay, MIM# 618832","Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher disease"],"gene_symbol":"PLP1","hgnc_symbol":"PLP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:103028647-103047548","ensembl_id":"ENSG00000123560"}},"GRch38":{"90":{"location":"X:103773718-103792619","ensembl_id":"ENSG00000123560"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7512350","11071483","21679407","28133555","29486744","35346287","37637647"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pelizaeus-Merzbacher Disease, MIM#312080"],"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":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OIP106","KIAA1042","MILT1"],"biotype":"protein_coding","hgnc_id":"HGNC:29947","gene_name":"trafficking kinesin protein 1","omim_gene":["608112"],"alias_name":["OGT(O Glc NAc transferase) interacting protein 106 KDa","O-linked N-acetylglucosamine transferase interacting protein 106","milton homolog 1 (Drosophila)"],"gene_symbol":"TRAK1","hgnc_symbol":"TRAK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42055294-42267381","ensembl_id":"ENSG00000182606"}},"GRch38":{"90":{"location":"3:42013802-42225889","ensembl_id":"ENSG00000182606"}}},"hgnc_date_symbol_changed":"2005-12-13"},"entity_type":"gene","entity_name":"TRAK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940097","28364549","29846532","28924745"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 68, MIM# 618201"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bHLHe37","N-myc","MYCNOT"],"biotype":"protein_coding","hgnc_id":"HGNC:7559","gene_name":"MYCN proto-oncogene, bHLH transcription factor","omim_gene":["164840"],"alias_name":null,"gene_symbol":"MYCN","hgnc_symbol":"MYCN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:16080686-16087129","ensembl_id":"ENSG00000134323"}},"GRch38":{"90":{"location":"2:15940564-15947007","ensembl_id":"ENSG00000134323"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MYCN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3522","gene_name":"EYA transcriptional coactivator and phosphatase 4","omim_gene":["603550"],"alias_name":null,"gene_symbol":"EYA4","hgnc_symbol":"EYA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:133561736-133853258","ensembl_id":"ENSG00000112319"}},"GRch38":{"90":{"location":"6:133240598-133532120","ensembl_id":"ENSG00000112319"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"EYA4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11159937","​17568404","25681523","25963406","25242383","26331839","18219393","27545760","15735644"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 10, MIM# 601316"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["parafibromin","FIHP"],"biotype":"protein_coding","hgnc_id":"HGNC:16783","gene_name":"cell division cycle 73","omim_gene":["607393"],"alias_name":["Paf1/RNA polymerase II complex component"],"gene_symbol":"CDC73","hgnc_symbol":"CDC73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:193091147-193223031","ensembl_id":"ENSG00000134371"}},"GRch38":{"90":{"location":"1:193122017-193253901","ensembl_id":"ENSG00000134371"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"CDC73","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperparathyroidism-jaw tumour syndrome, MIM# 145001","Hyperparathyroidism, familial primary, MIM# 145000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Carnitine deficiency, systemic primary, MIM# 212140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p21cdc42Hs","ACK","ACK1"],"biotype":"protein_coding","hgnc_id":"HGNC:19297","gene_name":"tyrosine kinase non receptor 2","omim_gene":["606994"],"alias_name":["activated Cdc42-associated kinase 1"],"gene_symbol":"TNK2","hgnc_symbol":"TNK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195590235-195638816","ensembl_id":"ENSG00000061938"}},"GRch38":{"90":{"location":"3:195863364-195911945","ensembl_id":"ENSG00000061938"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"TNK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27977884","23686771","31517310"],"evidence":["Victorian Clinical Genetics Services","Expert Review Amber"],"phenotypes":["late onset infantile epilepsy","Mayer-Rokitansky-Küster-Hauser syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BGL","LAB300","LBA"],"biotype":"protein_coding","hgnc_id":"HGNC:1742","gene_name":"LPS responsive beige-like anchor protein","omim_gene":["606453"],"alias_name":null,"gene_symbol":"LRBA","hgnc_symbol":"LRBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:151185594-151936879","ensembl_id":"ENSG00000198589"}},"GRch38":{"90":{"location":"4:150264531-151015727","ensembl_id":"ENSG00000198589"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"LRBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22721650","25468195","26206937","22608502"],"evidence":["Literature","Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency, common variable, 8, with autoimmunity, MIM#\t614700","Recurrent infections","Inflammatory bowel disease","Autoimmunity","EBV infections"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATLD"],"biotype":"protein_coding","hgnc_id":"HGNC:7230","gene_name":"MRE11 homolog, double strand break repair nuclease","omim_gene":["600814"],"alias_name":["AT-like 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["YF5","A2","LRRC76"],"biotype":"protein_coding","hgnc_id":"HGNC:1260","gene_name":"chromosome 21 open reading frame 2","omim_gene":["603191"],"alias_name":["nuclear encoded mitochondrial protein","leucine rich repeat containing 76"],"gene_symbol":"C21orf2","hgnc_symbol":"C21orf2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45748827-45759285","ensembl_id":"ENSG00000160226"}},"GRch38":{"90":{"location":"21:44328944-44339402","ensembl_id":"ENSG00000160226"}}},"hgnc_date_symbol_changed":"1998-08-06"},"entity_type":"gene","entity_name":"C21orf2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26974433"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Literature","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Axial Spondylometaphyseal Dysplasia 602271","Spondylometaphyseal dysplasia, axial 602271"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.433","version_created":"2026-04-23T20:38:03.561440+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAD1","FANCQ"],"biotype":"protein_coding","hgnc_id":"HGNC:3436","gene_name":"ERCC excision repair 4, endonuclease catalytic subunit","omim_gene":["133520"],"alias_name":["xeroderma pigmentosum, complementation group F"],"gene_symbol":"ERCC4","hgnc_symbol":"ERCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14014014-14046202","ensembl_id":"ENSG00000175595"}},"GRch38":{"90":{"location":"16:13920157-13952345","ensembl_id":"ENSG00000175595"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29403087","28431612","29892709"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Cerebellar ataxia","Xeroderma pigmentosum, group F, MIM#\t278760"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAT","SAMS","MATA1","SAMS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6903","gene_name":"methionine adenosyltransferase 1A","omim_gene":["610550"],"alias_name":["S-adenosylmethionine synthetase"],"gene_symbol":"MAT1A","hgnc_symbol":"MAT1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:82031576-82049440","ensembl_id":"ENSG00000151224"}},"GRch38":{"90":{"location":"10:80271820-80289684","ensembl_id":"ENSG00000151224"}}},"hgnc_date_symbol_changed":"1997-07-01"},"entity_type":"gene","entity_name":"MAT1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["8770875"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. 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Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["11889467","15200506"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Partington syndrome, MIM# 309510","Dystonia"],"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":["STR"],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761A0620","FLJ11413"],"biotype":"protein_coding","hgnc_id":"HGNC:19405","gene_name":"piggyBac transposable element derived 5","omim_gene":["616791"],"alias_name":null,"gene_symbol":"PGBD5","hgnc_symbol":"PGBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:230457392-230561475","ensembl_id":"ENSG00000177614"}},"GRch38":{"90":{"location":"1:230314482-230426371","ensembl_id":"ENSG00000177614"}}},"hgnc_date_symbol_changed":"2002-10-23"},"entity_type":"gene","entity_name":"PGBD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41533792"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ22559","bA541N10.2"],"biotype":"protein_coding","hgnc_id":"HGNC:26200","gene_name":"STN1, CST complex subunit","omim_gene":["613128"],"alias_name":null,"gene_symbol":"STN1","hgnc_symbol":"STN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105642300-105677963","ensembl_id":"ENSG00000107960"}},"GRch38":{"90":{"location":"10:103882542-103918205","ensembl_id":"ENSG00000107960"}}},"hgnc_date_symbol_changed":"2016-10-04"},"entity_type":"gene","entity_name":"STN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27432940","32627942"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ12584","KIAA1868","ARM","KU-MEL-1"],"biotype":"protein_coding","hgnc_id":"HGNC:20730","gene_name":"armadillo repeat containing 9","omim_gene":["617612"],"alias_name":null,"gene_symbol":"ARMC9","hgnc_symbol":"ARMC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232063260-232239548","ensembl_id":"ENSG00000135931"}},"GRch38":{"90":{"location":"2:231198546-231374837","ensembl_id":"ENSG00000135931"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"ARMC9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28625504"],"evidence":["Expert Review Amber","Expert list","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 30 MIM#617622"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RBIG1","FLJ21044","HGPS"],"biotype":"protein_coding","hgnc_id":"HGNC:13433","gene_name":"roundabout guidance receptor 3","omim_gene":["608630"],"alias_name":null,"gene_symbol":"ROBO3","hgnc_symbol":"ROBO3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124735282-124751366","ensembl_id":"ENSG00000154134"}},"GRch38":{"90":{"location":"11:124865386-124881470","ensembl_id":"ENSG00000154134"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"ROBO3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Gaze palsy, horizontal, with progressive scoliosis, 607313 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:18712","gene_name":"leucine rich repeat LGI family member 4","omim_gene":["608303"],"alias_name":null,"gene_symbol":"LGI4","hgnc_symbol":"LGI4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35615417-35633355","ensembl_id":"ENSG00000153902"}},"GRch38":{"90":{"location":"19:35124513-35142451","ensembl_id":"ENSG00000153902"}}},"hgnc_date_symbol_changed":"2002-05-30"},"entity_type":"gene","entity_name":"LGI4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7828","gene_name":"nitrilase 1","omim_gene":["604618"],"alias_name":null,"gene_symbol":"NIT1","hgnc_symbol":"NIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161087876-161095235","ensembl_id":"ENSG00000158793"}},"GRch38":{"90":{"location":"1:161118086-161125445","ensembl_id":"ENSG00000158793"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"NIT1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["38430071"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Brain small vessel disease 4, MIM# 621313"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ECNOS","eNOS"],"biotype":"protein_coding","hgnc_id":"HGNC:7876","gene_name":"nitric oxide synthase 3","omim_gene":["163729"],"alias_name":["endothelial nitric oxide synthase"],"gene_symbol":"NOS3","hgnc_symbol":"NOS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150688083-150711676","ensembl_id":"ENSG00000164867"}},"GRch38":{"90":{"location":"7:150990995-151014588","ensembl_id":"ENSG00000164867"}}},"hgnc_date_symbol_changed":"1993-08-23"},"entity_type":"gene","entity_name":"NOS3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24986538","28084234","36941667","37383439"],"evidence":["Expert Review Amber","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["{Ischemic stroke, susceptibility to} MIM#601367","Moyamoya disease, MONDO:0016820"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3762","gene_name":"fibronectin leucine rich transmembrane protein 3","omim_gene":["604808"],"alias_name":null,"gene_symbol":"FLRT3","hgnc_symbol":"FLRT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:14303634-14318262","ensembl_id":"ENSG00000125848"}},"GRch38":{"90":{"location":"20:14322988-14337616","ensembl_id":"ENSG00000125848"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"FLRT3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23643382","31200363"],"evidence":["Expert Review Red","Expert Review Red","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 21 with anosmia 615271"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24316","gene_name":"translational activator of cytochrome c oxidase I","omim_gene":["612958"],"alias_name":null,"gene_symbol":"TACO1","hgnc_symbol":"TACO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61678231-61685725","ensembl_id":"ENSG00000136463"}},"GRch38":{"90":{"location":"17:63600872-63608365","ensembl_id":"ENSG00000136463"}}},"hgnc_date_symbol_changed":"2009-06-26"},"entity_type":"gene","entity_name":"TACO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["MetBioNet","Expert Review Red","NHS GMS"],"phenotypes":["Mitochondrial complex IV deficiency, 220110"],"mode_of_inheritance":"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":["CPD","Cupidin","Vesl-2","HOMER-2B","HOMER-2","HOMER-2A","DFNA68"],"biotype":"protein_coding","hgnc_id":"HGNC:17513","gene_name":"homer scaffolding protein 2","omim_gene":["604799"],"alias_name":null,"gene_symbol":"HOMER2","hgnc_symbol":"HOMER2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83509838-83654661","ensembl_id":"ENSG00000103942"}},"GRch38":{"90":{"location":"15:82836946-82986153","ensembl_id":"ENSG00000103942"}}},"hgnc_date_symbol_changed":"2003-01-28"},"entity_type":"gene","entity_name":"HOMER2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autosomal dominant non syndromic deafness"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["mlemp","OTGN","FLJ46346"],"biotype":"protein_coding","hgnc_id":"HGNC:8516","gene_name":"otogelin","omim_gene":["604487"],"alias_name":null,"gene_symbol":"OTOG","hgnc_symbol":"OTOG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17568920-17668697","ensembl_id":"ENSG00000188162"}},"GRch38":{"90":{"location":"11:17547373-17647150","ensembl_id":"ENSG00000188162"}}},"hgnc_date_symbol_changed":"1998-05-05"},"entity_type":"gene","entity_name":"OTOG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hGLE1"],"biotype":"protein_coding","hgnc_id":"HGNC:4315","gene_name":"GLE1, RNA export mediator","omim_gene":["603371"],"alias_name":null,"gene_symbol":"GLE1","hgnc_symbol":"GLE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131266979-131304567","ensembl_id":"ENSG00000119392"}},"GRch38":{"90":{"location":"9:128504700-128542288","ensembl_id":"ENSG00000119392"}}},"hgnc_date_symbol_changed":"2007-10-04"},"entity_type":"gene","entity_name":"GLE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Lethal arthrogryposis with anterior horn cell disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC019","GL"],"biotype":"protein_coding","hgnc_id":"HGNC:21652","gene_name":"osteopetrosis associated transmembrane protein 1","omim_gene":["607649"],"alias_name":["CLCN7 accessory beta subunit"],"gene_symbol":"OSTM1","hgnc_symbol":"OSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108362613-108487058","ensembl_id":"ENSG00000081087"}},"GRch38":{"90":{"location":"6:108041409-108165854","ensembl_id":"ENSG00000081087"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"OSTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Osteopetrosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9988267","10590074"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 1, MIM# 105650","MONDO:0007110"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.55","version_created":"2026-04-25T18:35:42.043170+10:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["CORNELIA DE LANGE SYNDROME 3","CDLS3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686E10109","NudCL2"],"biotype":"protein_coding","hgnc_id":"HGNC:30535","gene_name":"NudC domain containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"NUDCD2","hgnc_symbol":"NUDCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:162873532-162887146","ensembl_id":"ENSG00000170584"}},"GRch38":{"90":{"location":"5:163446526-163460140","ensembl_id":"ENSG00000170584"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"NUDCD2","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["37272762"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Multiple congenital anomalies (MONDO:0019042), NUDCD2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25125236","25655089"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cornelia de Lange syndrome 3, MIM# 610759"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.104","version_created":"2026-04-26T12:53:45.051003+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":null,"publications":["15645389","16977596"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive, MIM# 234050","MONDO:0021013"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.104","version_created":"2026-04-26T12:53:45.051003+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RecQ4"],"biotype":"protein_coding","hgnc_id":"HGNC:9949","gene_name":"RecQ like helicase 4","omim_gene":["603780"],"alias_name":null,"gene_symbol":"RECQL4","hgnc_symbol":"RECQL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145736667-145743229","ensembl_id":"ENSG00000160957"}},"GRch38":{"90":{"location":"8:144511288-144517845","ensembl_id":"ENSG00000160957"}}},"hgnc_date_symbol_changed":"2014-03-07"},"entity_type":"gene","entity_name":"RECQL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Rothmund-Thomson syndrome 268400","RAPILINO syndrome 266280","Baller-Gerold syndrome 218600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12548288","17041891","19843503"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 6, MIM# 614075","MONDO:0013558"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UBC2","HHR6A","RAD6A"],"biotype":"protein_coding","hgnc_id":"HGNC:12472","gene_name":"ubiquitin conjugating enzyme E2 A","omim_gene":["312180"],"alias_name":null,"gene_symbol":"UBE2A","hgnc_symbol":"UBE2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:118708501-118718381","ensembl_id":"ENSG00000077721"}},"GRch38":{"90":{"location":"X:119574467-119591083","ensembl_id":"ENSG00000077721"}}},"hgnc_date_symbol_changed":"1992-12-02"},"entity_type":"gene","entity_name":"UBE2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24053514","16909393"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mental retardation, X-linked syndromic, Nascimento-type (MIM#300860)"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TYKY","CI-23k"],"biotype":"protein_coding","hgnc_id":"HGNC:7715","gene_name":"NADH:ubiquinone oxidoreductase core subunit S8","omim_gene":["602141"],"alias_name":["complex I 23kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"],"gene_symbol":"NDUFS8","hgnc_symbol":"NDUFS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67798084-67804111","ensembl_id":"ENSG00000110717"}},"GRch38":{"90":{"location":"11:68030617-68036644","ensembl_id":"ENSG00000110717"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"NDUFS8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23430795","9837812","15159508","22499348","20818383","20819849"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 2 MIM#618222"],"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. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29024068"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001","MONDO:0010976"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TYKY","CI-23k"],"biotype":"protein_coding","hgnc_id":"HGNC:7715","gene_name":"NADH:ubiquinone oxidoreductase core subunit S8","omim_gene":["602141"],"alias_name":["complex I 23kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"],"gene_symbol":"NDUFS8","hgnc_symbol":"NDUFS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67798084-67804111","ensembl_id":"ENSG00000110717"}},"GRch38":{"90":{"location":"11:68030617-68036644","ensembl_id":"ENSG00000110717"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"NDUFS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23430795","36101822"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 2 (MIM#618222)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PLAP","PLA2P","FLJ11281","FLJ12699","DOA1"],"biotype":"protein_coding","hgnc_id":"HGNC:9043","gene_name":"phospholipase A2 activating protein","omim_gene":["603873"],"alias_name":["DOA1 homolog (S. cerevisiae)"],"gene_symbol":"PLAA","hgnc_symbol":"PLAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:26904081-26947461","ensembl_id":"ENSG00000137055"}},"GRch38":{"90":{"location":"9:26904083-26947463","ensembl_id":"ENSG00000137055"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PLAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28007986","28413018","31322726"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies,MIM#617527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIP4"],"biotype":"protein_coding","hgnc_id":"HGNC:1550","gene_name":"cystathionine-beta-synthase","omim_gene":["613381"],"alias_name":null,"gene_symbol":"CBS","hgnc_symbol":"CBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44473301-44497053","ensembl_id":"ENSG00000160200"}},"GRch38":{"90":{"location":"21:43053191-43076943","ensembl_id":"ENSG00000160200"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301697","18987302","29398487"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["classic homocystinuria MONDO:0009352"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6553","gene_name":"leptin","omim_gene":["164160"],"alias_name":null,"gene_symbol":"LEP","hgnc_symbol":"LEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:127881337-127897681","ensembl_id":"ENSG00000174697"}},"GRch38":{"90":{"location":"7:128241284-128257628","ensembl_id":"ENSG00000174697"}}},"hgnc_date_symbol_changed":"1993-01-26"},"entity_type":"gene","entity_name":"LEP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26567097"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Obesity, morbid, due to leptin deficiency (MIM#614962)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11240","bA810I22.1","cblF"],"biotype":"protein_coding","hgnc_id":"HGNC:23038","gene_name":"LMBR1 domain containing 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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":["AGAS","ARGA","NAT7"],"biotype":"protein_coding","hgnc_id":"HGNC:17996","gene_name":"N-acetylglutamate synthase","omim_gene":["608300"],"alias_name":null,"gene_symbol":"NAGS","hgnc_symbol":"NAGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42081914-42086431","ensembl_id":"ENSG00000161653"}},"GRch38":{"90":{"location":"17:44004546-44009063","ensembl_id":"ENSG00000161653"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"NAGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A 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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":["FTZ1","SF-1","ELP","AD4BP","hSF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7983","gene_name":"nuclear receptor subfamily 5 group A member 1","omim_gene":["184757"],"alias_name":["steroidogenic factor 1"],"gene_symbol":"NR5A1","hgnc_symbol":"NR5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127243516-127269709","ensembl_id":"ENSG00000136931"}},"GRch38":{"90":{"location":"9:124481236-124507430","ensembl_id":"ENSG00000136931"}}},"hgnc_date_symbol_changed":"1994-06-07"},"entity_type":"gene","entity_name":"NR5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Adrenocortical insufficiency, (MIM#612964)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","endocrine"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:6269","gene_name":"potassium voltage-gated channel subfamily J member 8","omim_gene":["600935"],"alias_name":null,"gene_symbol":"KCNJ8","hgnc_symbol":"KCNJ8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21917889-21928515","ensembl_id":"ENSG00000121361"}},"GRch38":{"90":{"location":"12:21764955-21775581","ensembl_id":"ENSG00000121361"}}},"hgnc_date_symbol_changed":"1995-07-18"},"entity_type":"gene","entity_name":"KCNJ8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq 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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":["osterix","OSX"],"biotype":"protein_coding","hgnc_id":"HGNC:17321","gene_name":"Sp7 transcription 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spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11067","gene_name":"solute carrier family 7 member 9","omim_gene":["604144"],"alias_name":null,"gene_symbol":"SLC7A9","hgnc_symbol":"SLC7A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:33321415-33360672","ensembl_id":"ENSG00000021488"}},"GRch38":{"90":{"location":"19:32830509-32869766","ensembl_id":"ENSG00000021488"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"SLC7A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10471498"],"evidence":["Expert Review Green","Victorian Clinical Genetics 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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":["CalDAG-GEFII","RASGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:9878","gene_name":"RAS guanyl releasing protein 1","omim_gene":["603962"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II"],"gene_symbol":"RASGRP1","hgnc_symbol":"RASGRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38780304-38857776","ensembl_id":"ENSG00000172575"}},"GRch38":{"90":{"location":"15:38488103-38565575","ensembl_id":"ENSG00000172575"}}},"hgnc_date_symbol_changed":"1999-06-02"},"entity_type":"gene","entity_name":"RASGRP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29155103","39752212"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Immunodeficiency 64\tMIM#618534"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3964","gene_name":"follicle stimulating hormone beta subunit","omim_gene":["136530"],"alias_name":["follitropin, beta 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England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati 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PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IT15"],"biotype":"protein_coding","hgnc_id":"HGNC:4851","gene_name":"huntingtin","omim_gene":["613004"],"alias_name":null,"gene_symbol":"HTT","hgnc_symbol":"HTT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:3076408-3245676","ensembl_id":"ENSG00000197386"}},"GRch38":{"90":{"location":"4:3074681-3243959","ensembl_id":"ENSG00000197386"}}},"hgnc_date_symbol_changed":"2007-12-04"},"entity_type":"str","entity_name":"HTT_HD_CAG","confidence_level":"3","penetrance":null,"publications":["8458085","20301482","29325606"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Huntington disease MIM#143100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}