{"count":36026,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=17","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=15","results":[{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31700164","30986449","29930474","22171686"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia","Coloboma, ocular, MIM# 120200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC19780"],"biotype":"protein_coding","hgnc_id":"HGNC:28287","gene_name":"ALG14, UDP-N-acetylglucosaminyltransferase subunit","omim_gene":["612866"],"alias_name":null,"gene_symbol":"ALG14","hgnc_symbol":"ALG14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:95439963-95538501","ensembl_id":"ENSG00000172339"}},"GRch38":{"90":{"location":"1:94974407-95072945","ensembl_id":"ENSG00000172339"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"ALG14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28733338","34971077"],"evidence":["Expert Review Green","Literature"],"phenotypes":["ALG14-congenital disorder of glycosylation, MONDO:0100559"],"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":[]},{"gene_data":{"alias":["CRG-L2","CLOM","colmedin","UNC-112"],"biotype":"protein_coding","hgnc_id":"HGNC:29514","gene_name":"gliomedin","omim_gene":["608603"],"alias_name":null,"gene_symbol":"GLDN","hgnc_symbol":"GLDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51633826-51700210","ensembl_id":"ENSG00000186417"}},"GRch38":{"90":{"location":"15:51341629-51408013","ensembl_id":"ENSG00000186417"}}},"hgnc_date_symbol_changed":"2005-10-06"},"entity_type":"gene","entity_name":"GLDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27616481","32812332","28726266"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lethal congenital contracture syndrome 11, MIM# 617194","MONDO:0014965"],"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":["RSK","RSK2","HU-3"],"biotype":"protein_coding","hgnc_id":"HGNC:10432","gene_name":"ribosomal protein S6 kinase A3","omim_gene":["300075"],"alias_name":null,"gene_symbol":"RPS6KA3","hgnc_symbol":"RPS6KA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:20168029-20285523","ensembl_id":"ENSG00000177189"}},"GRch38":{"90":{"location":"X:20149911-20267100","ensembl_id":"ENSG00000177189"}}},"hgnc_date_symbol_changed":"1994-07-11"},"entity_type":"gene","entity_name":"RPS6KA3","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":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686L20145","RPH11","RAB11BP","SYM-4"],"biotype":"protein_coding","hgnc_id":"HGNC:30512","gene_name":"WD repeat domain 44","omim_gene":null,"alias_name":null,"gene_symbol":"WDR44","hgnc_symbol":"WDR44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:117480036-117583924","ensembl_id":"ENSG00000131725"}},"GRch38":{"90":{"location":"X:118346073-118449961","ensembl_id":"ENSG00000131725"}}},"hgnc_date_symbol_changed":"2004-09-02"},"entity_type":"gene","entity_name":"WDR44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38191484"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, WDR44-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3091","gene_name":"dual specificity tyrosine phosphorylation regulated kinase 1A","omim_gene":["600855"],"alias_name":null,"gene_symbol":"DYRK1A","hgnc_symbol":"DYRK1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:38738092-38889753","ensembl_id":"ENSG00000157540"}},"GRch38":{"90":{"location":"21:37365790-37517450","ensembl_id":"ENSG00000157540"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"DYRK1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28053047","25944381"],"evidence":["Expert Review Red","Literature"],"phenotypes":["congenital cataracts"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATPSK2"],"biotype":"protein_coding","hgnc_id":"HGNC:8604","gene_name":"3'-phosphoadenosine 5'-phosphosulfate synthase 2","omim_gene":["603005"],"alias_name":["sulfate adenylyltransferase","adenylyl-sulfate kinase","adenosine 5'-phosphosulfate kinase","bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2"],"gene_symbol":"PAPSS2","hgnc_symbol":"PAPSS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89419370-89507462","ensembl_id":"ENSG00000198682"}},"GRch38":{"90":{"location":"10:87659613-87747705","ensembl_id":"ENSG00000198682"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"PAPSS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22791835","25594860","31461705","23633440","9771708","19474428"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is 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":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","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":["N27C7-4"],"biotype":"protein_coding","hgnc_id":"HGNC:15559","gene_name":"coiled-coil-helix-coiled-coil-helix domain containing 10","omim_gene":["615903"],"alias_name":null,"gene_symbol":"CHCHD10","hgnc_symbol":"CHCHD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24108021-24110630","ensembl_id":"ENSG00000250479"}},"GRch38":{"90":{"location":"22:23765834-23768443","ensembl_id":"ENSG00000250479"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"CHCHD10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Myopathy, isolated mitochondrial, MIM#616209"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental 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":["FLJ90013"],"biotype":"protein_coding","hgnc_id":"HGNC:26887","gene_name":"transmembrane anterior posterior transformation 1","omim_gene":["612758"],"alias_name":null,"gene_symbol":"TAPT1","hgnc_symbol":"TAPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:16162128-16229033","ensembl_id":"ENSG00000169762"}},"GRch38":{"90":{"location":"4:16160505-16227410","ensembl_id":"ENSG00000169762"}}},"hgnc_date_symbol_changed":"2007-02-02"},"entity_type":"gene","entity_name":"TAPT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26365339"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP7","ABC35","TNR-CFTR","dJ760C5.1","CFTR/MRP"],"biotype":"protein_coding","hgnc_id":"HGNC:1884","gene_name":"cystic fibrosis transmembrane conductance regulator","omim_gene":["602421"],"alias_name":["ATP-binding cassette sub-family C, member 7"],"gene_symbol":"CFTR","hgnc_symbol":"CFTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:117105838-117356025","ensembl_id":"ENSG00000001626"}},"GRch38":{"90":{"location":"7:117465784-117715971","ensembl_id":"ENSG00000001626"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CFTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cystic fibrosis, MIM# 219700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0784","ADNP1"],"biotype":"protein_coding","hgnc_id":"HGNC:15766","gene_name":"activity dependent neuroprotector homeobox","omim_gene":["611386"],"alias_name":["ADNP homeobox 1"],"gene_symbol":"ADNP","hgnc_symbol":"ADNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49505585-49547958","ensembl_id":"ENSG00000101126"}},"GRch38":{"90":{"location":"20:50888919-50931240","ensembl_id":"ENSG00000101126"}}},"hgnc_date_symbol_changed":"2001-05-31"},"entity_type":"gene","entity_name":"ADNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37086723"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Helsmoortel-van der Aa syndrome MIM#615873"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.84","version_created":"2026-04-02T18:50:11.631878+11:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20397","FLJ31671","FLJ39381","FLJ25564","CILD18"],"biotype":"protein_coding","hgnc_id":"HGNC:26013","gene_name":"dynein axonemal assembly factor 5","omim_gene":["614864"],"alias_name":null,"gene_symbol":"DNAAF5","hgnc_symbol":"DNAAF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:766338-829190","ensembl_id":"ENSG00000164818"}},"GRch38":{"90":{"location":"7:726701-786475","ensembl_id":"ENSG00000164818"}}},"hgnc_date_symbol_changed":"2014-12-05"},"entity_type":"gene","entity_name":"DNAAF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23040496","29363216","25232951"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 18, MIM# 614874"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"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":["SNAP-29","CEDNIK"],"biotype":"protein_coding","hgnc_id":"HGNC:11133","gene_name":"synaptosome associated protein 29","omim_gene":["604202"],"alias_name":["soluble 29 kDa NSF attachment protein"],"gene_symbol":"SNAP29","hgnc_symbol":"SNAP29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21213271-21245506","ensembl_id":"ENSG00000099940"}},"GRch38":{"90":{"location":"22:20858983-20891218","ensembl_id":"ENSG00000099940"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"SNAP29","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15968592","21073448"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"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":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16415887","17377820","17160906","19508969"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 6, MIM# 610688","Meckel syndrome 3, MIM# 607361","Nephronophthisis 11, MIM# 613550","COACH syndrome 1, MIM# 216360"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:914","gene_name":"beta-2-microglobulin","omim_gene":["109700"],"alias_name":null,"gene_symbol":"B2M","hgnc_symbol":"B2M","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45003675-45011075","ensembl_id":"ENSG00000166710"}},"GRch38":{"90":{"location":"15:44711477-44718877","ensembl_id":"ENSG00000166710"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"B2M","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["4186801","16549777","25702838","11118151","6165007","22693999"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 43 MIM# 241600","Sinopulmonary infections","Purple-red skin lesions","Decreased serum IgG","Decreased B cells","Absent β2m associated proteins MHC-I, CD1a, CD1b, and CD1c","MONDO:0009434","Amyloidosis, familial visceral, MIM# 105200"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28374019","29511323","27668699"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypomyelinating neuropathy, congenital, 3, MIM#618186","Lethal congenital contracture syndrome 7, MIM# 616286"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD35","KN"],"biotype":"protein_coding","hgnc_id":"HGNC:2334","gene_name":"complement C3b/C4b receptor 1 (Knops blood group)","omim_gene":["120620"],"alias_name":null,"gene_symbol":"CR1","hgnc_symbol":"CR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207669492-207813992","ensembl_id":"ENSG00000203710"}},"GRch38":{"90":{"location":"1:207496147-207640647","ensembl_id":"ENSG00000203710"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DFNA40"],"biotype":"protein_coding","hgnc_id":"HGNC:2418","gene_name":"crystallin mu","omim_gene":["123740"],"alias_name":["thiomorpholine-carboxylate dehydrogenase"],"gene_symbol":"CRYM","hgnc_symbol":"CRYM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:21250195-21314404","ensembl_id":"ENSG00000103316"}},"GRch38":{"90":{"location":"16:21238874-21303083","ensembl_id":"ENSG00000103316"}}},"hgnc_date_symbol_changed":"1992-11-26"},"entity_type":"gene","entity_name":"CRYM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32742378","12471561","16740909","18448257","24676347","26915689"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 40 MIM#616357"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HCS","CYC"],"biotype":"protein_coding","hgnc_id":"HGNC:19986","gene_name":"cytochrome c, somatic","omim_gene":["123970"],"alias_name":null,"gene_symbol":"CYCS","hgnc_symbol":"CYCS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:25159710-25164980","ensembl_id":"ENSG00000172115"}},"GRch38":{"90":{"location":"7:25120091-25125361","ensembl_id":"ENSG00000172115"}}},"hgnc_date_symbol_changed":"2002-12-16"},"entity_type":"gene","entity_name":"CYCS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24326104","18345000","30051457"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombocytopenia 4, MIM# 612004"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DSEPI","DS-Epi1"],"biotype":"protein_coding","hgnc_id":"HGNC:21144","gene_name":"dermatan sulfate epimerase","omim_gene":["605942"],"alias_name":null,"gene_symbol":"DSE","hgnc_symbol":"DSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116575336-116762424","ensembl_id":"ENSG00000111817"}},"GRch38":{"90":{"location":"6:116254173-116444860","ensembl_id":"ENSG00000111817"}}},"hgnc_date_symbol_changed":"2007-01-29"},"entity_type":"gene","entity_name":"DSE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28306229","23704329","25703627","32130795"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PC-1","PCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:3356","gene_name":"ectonucleotide pyrophosphatase/phosphodiesterase 1","omim_gene":["173335"],"alias_name":null,"gene_symbol":"ENPP1","hgnc_symbol":"ENPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:132129156-132216295","ensembl_id":"ENSG00000197594"}},"GRch38":{"90":{"location":"6:131808016-131895155","ensembl_id":"ENSG00000197594"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"ENPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24075184","26617416","28964717","32598042","35220637","12881724","15605415","33005041","20016754","20137773","20137772"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arterial calcification, generalized, of infancy, 1, MIM# 208000","Cole disease, MIM# 615522","Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3606","gene_name":"fructose-bisphosphatase 1","omim_gene":["611570"],"alias_name":null,"gene_symbol":"FBP1","hgnc_symbol":"FBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97365415-97402531","ensembl_id":"ENSG00000165140"}},"GRch38":{"90":{"location":"9:94603133-94640249","ensembl_id":"ENSG00000165140"}}},"hgnc_date_symbol_changed":"1993-08-19"},"entity_type":"gene","entity_name":"FBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9382095","12126934","27101822","30858132"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["fructose-1,6-bisphosphatase deficiency MONDO:0009251"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["8630492","32641982","27139183","24864036","17033969","20301331","20301540","20301650","20301628"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["achondroplasia MONDO:0007037","Thanatophoric dysplasia type 1 MONDO:0008546","Thanatophoric dysplasia type 2 MONDO:0008547","hypochondroplasia MONDO:0007793","Muenke syndrome MONDO:0011274","FGFR3-related chondrodysplasia MONDO:0019685","severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658","Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833","camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6325","gene_name":"kinesin family member 5C","omim_gene":["604593"],"alias_name":null,"gene_symbol":"KIF5C","hgnc_symbol":"KIF5C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:149632819-149883273","ensembl_id":"ENSG00000168280"}},"GRch38":{"90":{"location":"2:148875250-149026759","ensembl_id":"ENSG00000168280"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","23033978","32562872"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 2, MIM# 615282"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ITBA2","CVG5","DXS9951E","DXS9879E","ESO3","Pcc1"],"biotype":"protein_coding","hgnc_id":"HGNC:26058","gene_name":"L antigen family member 3","omim_gene":["300060"],"alias_name":["DNA segment on chromosome X (unique) 9879 expressed sequence"],"gene_symbol":"LAGE3","hgnc_symbol":"LAGE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153706028-153707596","ensembl_id":"ENSG00000196976"}},"GRch38":{"90":{"location":"X:154477769-154479257","ensembl_id":"ENSG00000196976"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"LAGE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28805828"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Galloway-Mowat syndrome 2, X-linked, MIM# 301006"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12399","gene_name":"myotilin","omim_gene":["604103"],"alias_name":null,"gene_symbol":"MYOT","hgnc_symbol":"MYOT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137203480-137223540","ensembl_id":"ENSG00000120729"}},"GRch38":{"90":{"location":"5:137867791-137887851","ensembl_id":"ENSG00000120729"}}},"hgnc_date_symbol_changed":"2005-09-07"},"entity_type":"gene","entity_name":"MYOT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10958653","15111675","16380616","33250842","32509353","29924655"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myopathy, myofibrillar, 3, MIM# 609200","Myopathy, spheroid body, MIM# 182920"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P73"],"biotype":"protein_coding","hgnc_id":"HGNC:12003","gene_name":"tumor protein p73","omim_gene":["601990"],"alias_name":null,"gene_symbol":"TP73","hgnc_symbol":"TP73","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:3569084-3652765","ensembl_id":"ENSG00000078900"}},"GRch38":{"90":{"location":"1:3652520-3736201","ensembl_id":"ENSG00000078900"}}},"hgnc_date_symbol_changed":"1997-11-12"},"entity_type":"gene","entity_name":"TP73","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31130284","34077761"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466","Cortical malformation","Lissencephaly"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9839","gene_name":"RAS like proto-oncogene A","omim_gene":["179550"],"alias_name":["RAS-like protein A","Ras-related protein Ral-A","Ras family small GTP binding protein RALA","ras related GTP binding protein A"],"gene_symbol":"RALA","hgnc_symbol":"RALA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:39663082-39747723","ensembl_id":"ENSG00000006451"}},"GRch38":{"90":{"location":"7:39623483-39708124","ensembl_id":"ENSG00000006451"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RALA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30500825"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hiatt-Neu-Cooper neurodevelopmental syndrome, MIM# 619311","Intellectual disability","Seizures"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ37000","15E1.2","gatC"],"biotype":"protein_coding","hgnc_id":"HGNC:25068","gene_name":"glutamyl-tRNA amidotransferase subunit C","omim_gene":["617210"],"alias_name":null,"gene_symbol":"GATC","hgnc_symbol":"GATC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:120884241-120899389","ensembl_id":"ENSG00000257218"}},"GRch38":{"90":{"location":"12:120446438-120463749","ensembl_id":"ENSG00000257218"}}},"hgnc_date_symbol_changed":"2007-11-26"},"entity_type":"gene","entity_name":"GATC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30283131"],"evidence":["Expert Review Red","NHS GMS"],"phenotypes":["Mitochondrial cardiomyopathy","inborn mitochondrial metabolism disorder MONDO:0004069"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ23809","CPTIC","CPT1P"],"biotype":"protein_coding","hgnc_id":"HGNC:18540","gene_name":"carnitine palmitoyltransferase 1C","omim_gene":["608846"],"alias_name":null,"gene_symbol":"CPT1C","hgnc_symbol":"CPT1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50194155-50216988","ensembl_id":"ENSG00000169169"}},"GRch38":{"90":{"location":"19:49690898-49713731","ensembl_id":"ENSG00000169169"}}},"hgnc_date_symbol_changed":"2003-11-27"},"entity_type":"gene","entity_name":"CPT1C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25751282","23973755","30564185","41312619"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spastic paraplegia 73, autosomal dominant MIM#616282","MONDO:0014568"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TAOS2","FLJ10261","DOG1"],"biotype":"protein_coding","hgnc_id":"HGNC:21625","gene_name":"anoctamin 1","omim_gene":["610108"],"alias_name":null,"gene_symbol":"ANO1","hgnc_symbol":"ANO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69924408-70035634","ensembl_id":"ENSG00000131620"}},"GRch38":{"90":{"location":"11:70078302-70189528","ensembl_id":"ENSG00000131620"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32487539","37253099"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intestinal dysmotility syndrome, MIM# 620045","Moyamoya disease 7, MIM# 620687"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL25084","XTP3TPB","XTP3-B","ERLECTIN"],"biotype":"protein_coding","hgnc_id":"HGNC:25222","gene_name":"endoplasmic reticulum lectin 1","omim_gene":["611229"],"alias_name":["erlectin 1"],"gene_symbol":"ERLEC1","hgnc_symbol":"ERLEC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:54014181-54045956","ensembl_id":"ENSG00000068912"}},"GRch38":{"90":{"location":"2:53787044-53818819","ensembl_id":"ENSG00000068912"}}},"hgnc_date_symbol_changed":"2009-08-26"},"entity_type":"gene","entity_name":"ERLEC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32442352"],"evidence":["Expert Review Green","Literature"],"phenotypes":["autosomal dominant prognathism MONDO:0008312"],"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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ34221","FLJ34272","FLJ35277"],"biotype":"protein_coding","hgnc_id":"HGNC:23837","gene_name":"anoctamin 4","omim_gene":["610111"],"alias_name":null,"gene_symbol":"ANO4","hgnc_symbol":"ANO4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:101111304-101522419","ensembl_id":"ENSG00000151572"}},"GRch38":{"90":{"location":"12:100717526-101128641","ensembl_id":"ENSG00000151572"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38744284"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, ANO4-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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MSTP028","BTBD28"],"biotype":"protein_coding","hgnc_id":"HGNC:23236","gene_name":"potassium channel tetramerization domain containing 10","omim_gene":["613421"],"alias_name":null,"gene_symbol":"KCTD10","hgnc_symbol":"KCTD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109886461-109915349","ensembl_id":"ENSG00000110906"}},"GRch38":{"90":{"location":"12:109448656-109477544","ensembl_id":"ENSG00000110906"}}},"hgnc_date_symbol_changed":"2003-10-28"},"entity_type":"gene","entity_name":"KCTD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24705121","24430697","38489388","40121532"],"evidence":["Expert Review Green","Literature"],"phenotypes":["multiple congenital anomalies/dysmorphic syndrome MONDO:0019042, KCTD10-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":"1.4722","version_created":"2026-04-06T11:39:14.139879+10:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hSNF2H","hISWI","ISWI"],"biotype":"protein_coding","hgnc_id":"HGNC:11101","gene_name":"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5","omim_gene":["603375"],"alias_name":null,"gene_symbol":"SMARCA5","hgnc_symbol":"SMARCA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:144434616-144478639","ensembl_id":"ENSG00000153147"}},"GRch38":{"90":{"location":"4:143513463-143557486","ensembl_id":"ENSG00000153147"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"SMARCA5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33980485"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, SMARCA5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ13386"],"biotype":"protein_coding","hgnc_id":"HGNC:25815","gene_name":"centrosomal protein 63","omim_gene":["614724"],"alias_name":null,"gene_symbol":"CEP63","hgnc_symbol":"CEP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134204585-134293859","ensembl_id":"ENSG00000182923"}},"GRch38":{"90":{"location":"3:134485743-134575017","ensembl_id":"ENSG00000182923"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP63","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21983783","26158450"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Seckel syndrome 6, MIM#614728"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:26941","gene_name":"ubiquitin-fold modifier conjugating enzyme 1","omim_gene":["610554"],"alias_name":null,"gene_symbol":"UFC1","hgnc_symbol":"UFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161122566-161128646","ensembl_id":"ENSG00000143222"}},"GRch38":{"90":{"location":"1:161152776-161158856","ensembl_id":"ENSG00000143222"}}},"hgnc_date_symbol_changed":"2005-05-27"},"entity_type":"gene","entity_name":"UFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29868776","30552426"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with spasticity and poor growth (MIM#618076)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic"],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13478","gene_name":"ubiquitin protein ligase E3B","omim_gene":["608047"],"alias_name":null,"gene_symbol":"UBE3B","hgnc_symbol":"UBE3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109915207-109974507","ensembl_id":"ENSG00000151148"}},"GRch38":{"90":{"location":"12:109477402-109536705","ensembl_id":"ENSG00000151148"}}},"hgnc_date_symbol_changed":"2004-03-02"},"entity_type":"gene","entity_name":"UBE3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23200864","23200864","34012380","32949109"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Kaufman oculocerebrofacial syndrome, MIM# 244450","MONDO:0009485"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA131P10.1"],"biotype":"protein_coding","hgnc_id":"HGNC:20597","gene_name":"ubiquitin fold modifier 1","omim_gene":["610553"],"alias_name":null,"gene_symbol":"UFM1","hgnc_symbol":"UFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:38923986-38937140","ensembl_id":"ENSG00000120686"}},"GRch38":{"90":{"location":"13:38349849-38363619","ensembl_id":"ENSG00000120686"}}},"hgnc_date_symbol_changed":"2005-05-27"},"entity_type":"gene","entity_name":"UFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28931644","29868776"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 14, MIM# 617899"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["12R-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:430","gene_name":"arachidonate 12-lipoxygenase, 12R type","omim_gene":["603741"],"alias_name":null,"gene_symbol":"ALOX12B","hgnc_symbol":"ALOX12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7975954-7991021","ensembl_id":"ENSG00000179477"}},"GRch38":{"90":{"location":"17:8072636-8087703","ensembl_id":"ENSG00000179477"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"ALOX12B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 2, MIM# 242100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["U2AF1-RS2","URP","ZC3H22"],"biotype":"protein_coding","hgnc_id":"HGNC:23019","gene_name":"zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2","omim_gene":["300028"],"alias_name":null,"gene_symbol":"ZRSR2","hgnc_symbol":"ZRSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15808595-15841383","ensembl_id":"ENSG00000169249"}},"GRch38":{"90":{"location":"X:15790472-15823260","ensembl_id":"ENSG00000169249"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"ZRSR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38158857"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Orofaciodigital syndrome XXI, MIM# 301132"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10813","MuD","mu5"],"biotype":"protein_coding","hgnc_id":"HGNC:20192","gene_name":"adaptor related protein complex 5 mu 1 subunit","omim_gene":["614368"],"alias_name":["Mu-2 related death-inducing gene"],"gene_symbol":"AP5M1","hgnc_symbol":"AP5M1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57735627-57756797","ensembl_id":"ENSG00000053770"}},"GRch38":{"90":{"location":"14:57268909-57298742","ensembl_id":"ENSG00000053770"}}},"hgnc_date_symbol_changed":"2012-03-20"},"entity_type":"gene","entity_name":"AP5M1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40081374"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary macular dystrophy MONDO:0020242, AP-5 complex-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20157158"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5, MIM# 256731","MONDO:0009745"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCP2","Spc97p","SPBC97"],"biotype":"protein_coding","hgnc_id":"HGNC:18599","gene_name":"tubulin gamma complex associated protein 2","omim_gene":null,"alias_name":null,"gene_symbol":"TUBGCP2","hgnc_symbol":"TUBGCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135093135-135125841","ensembl_id":"ENSG00000130640"}},"GRch38":{"90":{"location":"10:133278630-133312337","ensembl_id":"ENSG00000130640"}}},"hgnc_date_symbol_changed":"2002-08-14"},"entity_type":"gene","entity_name":"TUBGCP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31630790"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737"],"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":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EXO70","KIAA1067","YJL085W","Exo70p","BLOM4"],"biotype":"protein_coding","hgnc_id":"HGNC:23214","gene_name":"exocyst complex component 7","omim_gene":["608163"],"alias_name":null,"gene_symbol":"EXOC7","hgnc_symbol":"EXOC7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74077087-74117657","ensembl_id":"ENSG00000182473"}},"GRch38":{"90":{"location":"17:76081017-76121576","ensembl_id":"ENSG00000182473"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"EXOC7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32103185"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["brain atrophy","seizures","developmental delay","microcephaly"],"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":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3607","gene_name":"fructose-bisphosphatase 2","omim_gene":["603027"],"alias_name":null,"gene_symbol":"FBP2","hgnc_symbol":"FBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:97321002-97356075","ensembl_id":"ENSG00000130957"}},"GRch38":{"90":{"location":"9:94558720-94593793","ensembl_id":"ENSG00000130957"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"FBP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33977262"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Leukodystrophy, childhood-onset, remitting, MIM# 619864"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ21127","TECT1","JBTS13"],"biotype":"protein_coding","hgnc_id":"HGNC:26113","gene_name":"tectonic family member 1","omim_gene":["609863"],"alias_name":null,"gene_symbol":"TCTN1","hgnc_symbol":"TCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111051832-111087235","ensembl_id":"ENSG00000204852"}},"GRch38":{"90":{"location":"12:110614027-110649430","ensembl_id":"ENSG00000204852"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 13, MIM# 614173","MONDO:0013608"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.610","version_created":"2026-03-31T18:57:58.699788+11:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P2X2"],"biotype":"protein_coding","hgnc_id":"HGNC:15459","gene_name":"purinergic receptor P2X 2","omim_gene":["600844"],"alias_name":null,"gene_symbol":"P2RX2","hgnc_symbol":"P2RX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:133195366-133198972","ensembl_id":"ENSG00000187848"}},"GRch38":{"90":{"location":"12:132618780-132622386","ensembl_id":"ENSG00000187848"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"P2RX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["23345450","24211385","33791800"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 41, MIM#\t608224"],"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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["KARS2","KARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6215","gene_name":"lysyl-tRNA synthetase","omim_gene":["601421"],"alias_name":["lysine tRNA ligase"],"gene_symbol":"KARS","hgnc_symbol":"KARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75661622-75682541","ensembl_id":"ENSG00000065427"}},"GRch38":{"90":{"location":"16:75627474-75648643","ensembl_id":"ENSG00000065427"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"KARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37770806"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["leukoencephalopathy, progressive, infantile-onset, with or without deafness MONDO:0030893"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"stats":{"number_of_genes":58,"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":["ORP150","HSP12A","Grp170"],"biotype":"protein_coding","hgnc_id":"HGNC:16931","gene_name":"hypoxia up-regulated 1","omim_gene":["601746"],"alias_name":["glucose-regulated protein 170"],"gene_symbol":"HYOU1","hgnc_symbol":"HYOU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118914900-118927913","ensembl_id":"ENSG00000149428"}},"GRch38":{"90":{"location":"11:119044189-119057202","ensembl_id":"ENSG00000149428"}}},"hgnc_date_symbol_changed":"2002-05-27"},"entity_type":"gene","entity_name":"HYOU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27913302","35822684"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 59 and hypoglycemia, MIM#\t233600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 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).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SWD3","CFAP89"],"biotype":"protein_coding","hgnc_id":"HGNC:12757","gene_name":"WD repeat domain 5","omim_gene":["609012"],"alias_name":["SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)","cilia and flagella associated protein 89"],"gene_symbol":"WDR5","hgnc_symbol":"WDR5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:137000487-137025093","ensembl_id":"ENSG00000196363"}},"GRch38":{"90":{"location":"9:134135365-134159968","ensembl_id":"ENSG00000196363"}}},"hgnc_date_symbol_changed":"1999-08-23"},"entity_type":"gene","entity_name":"WDR5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["36408368"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, WDR5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8654","gene_name":"propionyl-CoA carboxylase beta subunit","omim_gene":["232050"],"alias_name":null,"gene_symbol":"PCCB","hgnc_symbol":"PCCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:135969148-136056738","ensembl_id":"ENSG00000114054"}},"GRch38":{"90":{"location":"3:136250306-136337896","ensembl_id":"ENSG00000114054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22593918"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Propionicacidemia MIM#606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24415","gene_name":"bolA family member 3","omim_gene":["613183"],"alias_name":null,"gene_symbol":"BOLA3","hgnc_symbol":"BOLA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74362525-74375121","ensembl_id":"ENSG00000163170"}},"GRch38":{"90":{"location":"2:74135398-74147994","ensembl_id":"ENSG00000163170"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"BOLA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24334290","29654549","21944046","22562699","26741492","24334290"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (MMDS2, OMIM #614299)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEF2-1B","ITF2","bHLHb19","E2-2"],"biotype":"protein_coding","hgnc_id":"HGNC:11634","gene_name":"transcription factor 4","omim_gene":["602272"],"alias_name":null,"gene_symbol":"TCF4","hgnc_symbol":"TCF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:52889562-53332018","ensembl_id":"ENSG00000196628"}},"GRch38":{"90":{"location":"18:55222331-55664787","ensembl_id":"ENSG00000196628"}}},"hgnc_date_symbol_changed":"1990-10-16"},"entity_type":"gene","entity_name":"TCF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22934316"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Pitt-Hopkins syndrome MONDO:0012589"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4327","gene_name":"glycine receptor alpha 2","omim_gene":["305990"],"alias_name":null,"gene_symbol":"GLRA2","hgnc_symbol":"GLRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:14547420-14749934","ensembl_id":"ENSG00000101958"}},"GRch38":{"90":{"location":"X:14529298-14731812","ensembl_id":"ENSG00000101958"}}},"hgnc_date_symbol_changed":"1989-05-23"},"entity_type":"gene","entity_name":"GLRA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26370147","20479760","35294868"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076"],"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":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UNQ3030","ELLP3030","MGC50789","GARPL1"],"biotype":"protein_coding","hgnc_id":"HGNC:24613","gene_name":"negative regulator of reactive oxygen species","omim_gene":["615322"],"alias_name":null,"gene_symbol":"NRROS","hgnc_symbol":"NRROS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196366557-196388875","ensembl_id":"ENSG00000174004"}},"GRch38":{"90":{"location":"3:196639686-196662004","ensembl_id":"ENSG00000174004"}}},"hgnc_date_symbol_changed":"2013-07-02"},"entity_type":"gene","entity_name":"NRROS","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["32197075","32100099"],"evidence":["Expert Review Green","Literature"],"phenotypes":["neurodegeneration","intracranial calcification","epilepsy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PPP1R49"],"biotype":"protein_coding","hgnc_id":"HGNC:903","gene_name":"axin 1","omim_gene":["603816"],"alias_name":["protein phosphatase 1, regulatory subunit 49"],"gene_symbol":"AXIN1","hgnc_symbol":"AXIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:337440-402673","ensembl_id":"ENSG00000103126"}},"GRch38":{"90":{"location":"16:287440-352673","ensembl_id":"ENSG00000103126"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"AXIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37582359"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM# 620558"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9886","gene_name":"lysine demethylase 5A","omim_gene":["180202"],"alias_name":null,"gene_symbol":"KDM5A","hgnc_symbol":"KDM5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:389295-498620","ensembl_id":"ENSG00000073614"}},"GRch38":{"90":{"location":"12:280129-389454","ensembl_id":"ENSG00000073614"}}},"hgnc_date_symbol_changed":"2009-04-06"},"entity_type":"gene","entity_name":"KDM5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21937992","33350388"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, KDM5A-related","El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NFI-L","KIAA1439"],"biotype":"protein_coding","hgnc_id":"HGNC:7784","gene_name":"nuclear factor I A","omim_gene":["600727"],"alias_name":null,"gene_symbol":"NFIA","hgnc_symbol":"NFIA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:61330931-61928465","ensembl_id":"ENSG00000162599"}},"GRch38":{"90":{"location":"1:60865259-61462793","ensembl_id":"ENSG00000162599"}}},"hgnc_date_symbol_changed":"1995-03-09"},"entity_type":"gene","entity_name":"NFIA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35018717","33973697","32926563"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Brain malformations with or without urinary tract defects - MIM#613735"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BMD","DXS142","DXS164","DXS206","DXS230","DXS239","DXS268","DXS269","DXS270","DXS272"],"biotype":"protein_coding","hgnc_id":"HGNC:2928","gene_name":"dystrophin","omim_gene":["300377"],"alias_name":["muscular dystrophy, Duchenne and Becker types"],"gene_symbol":"DMD","hgnc_symbol":"DMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:31115794-33357558","ensembl_id":"ENSG00000198947"}},"GRch38":{"90":{"location":"X:31097677-33339441","ensembl_id":"ENSG00000198947"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"DMD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Duchenne muscular dystrophy MIM#310200"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PLZF"],"biotype":"protein_coding","hgnc_id":"HGNC:12930","gene_name":"zinc finger and BTB domain containing 16","omim_gene":["176797"],"alias_name":["promyelocytic leukaemia zinc finger"],"gene_symbol":"ZBTB16","hgnc_symbol":"ZBTB16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:113930315-114121398","ensembl_id":"ENSG00000109906"}},"GRch38":{"90":{"location":"11:114059593-114250676","ensembl_id":"ENSG00000109906"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"ZBTB16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Radboud University Medical Center, Nijmegen","Expert list","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Skeletal defects, genital hypoplasia, and mental retardation 612447"],"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":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"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":["PPP1R143"],"biotype":"protein_coding","hgnc_id":"HGNC:11071","gene_name":"solute carrier family 9 member A1","omim_gene":["107310"],"alias_name":["protein phosphatase 1, regulatory subunit 143"],"gene_symbol":"SLC9A1","hgnc_symbol":"SLC9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27425306-27493472","ensembl_id":"ENSG00000090020"}},"GRch38":{"90":{"location":"1:27098815-27166981","ensembl_id":"ENSG00000090020"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SLC9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25205112","30018422","25760855"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Lichtenstein-Knorr Syndrome, MIM#\t616291"],"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":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Cerebrotendinous xanthomatosis, 213700"],"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":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ35779","MGC120442","MGC120443","MGC120444","hPOC5"],"biotype":"protein_coding","hgnc_id":"HGNC:26658","gene_name":"POC5 centriolar protein","omim_gene":null,"alias_name":null,"gene_symbol":"POC5","hgnc_symbol":"POC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:74969949-75013313","ensembl_id":"ENSG00000152359"}},"GRch38":{"90":{"location":"5:75674124-75717481","ensembl_id":"ENSG00000152359"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40590205","29272404"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, POC5-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TINUR","NOT","RNR1","HZF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:7981","gene_name":"nuclear receptor subfamily 4 group A member 2","omim_gene":["601828"],"alias_name":null,"gene_symbol":"NR4A2","hgnc_symbol":"NR4A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:157180944-157198860","ensembl_id":"ENSG00000153234"}},"GRch38":{"90":{"location":"2:156324432-156342348","ensembl_id":"ENSG00000153234"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"NR4A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31922365"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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. 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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2570","gene_name":"cytochrome b5 type A","omim_gene":["613218"],"alias_name":null,"gene_symbol":"CYB5A","hgnc_symbol":"CYB5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:71920530-71959251","ensembl_id":"ENSG00000166347"}},"GRch38":{"90":{"location":"18:74250847-74292016","ensembl_id":"ENSG00000166347"}}},"hgnc_date_symbol_changed":"2006-01-30"},"entity_type":"gene","entity_name":"CYB5A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22170710, 20080843, 32051920, 3951505"],"evidence":["Expert Review Amber"],"phenotypes":["Disorders of haem degradation and bilirubin metabolism","methemoglobinemia type 4 MONDO:0009605"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3077,"hash_id":null,"name":"Haem degradation and bilirubin metabolism defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders of tetrapyrroles, including porphyria and disorders of bilirubin metabolism and biliary transport. \r\n\r\nThis panel is part of the Metabolic Disorders Superpanl. It was developed and maintained by RMH, and is a consensus panel used by VCGS.","status":"public","version":"0.20","version_created":"2026-02-22T15:38:52.606788+11:00","relevant_disorders":["Porphyria","MONDO:0037939;Abnormal circulating porphyrin concentration","HP:0010472;Hyperbilirubinemia","HP:0002904"],"stats":{"number_of_genes":25,"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":["URP","UNCL","GMH1"],"biotype":"protein_coding","hgnc_id":"HGNC:16046","gene_name":"unc-50 inner nuclear membrane RNA binding protein","omim_gene":null,"alias_name":null,"gene_symbol":"UNC50","hgnc_symbol":"UNC50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99225042-99234978","ensembl_id":"ENSG00000115446"}},"GRch38":{"90":{"location":"2:98608579-98618515","ensembl_id":"ENSG00000115446"}}},"hgnc_date_symbol_changed":"2004-01-21"},"entity_type":"gene","entity_name":"UNC50","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33820833","29016857","40219868"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["arthrogryposis multiplex congenita MONDO:0015168","congenital myasthenic syndrome MONDO:0018940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3078,"hash_id":null,"name":"Congenital Myasthenia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA504H3.4","DDK1"],"biotype":"protein_coding","hgnc_id":"HGNC:16205","gene_name":"mitochondrial genome maintenance exonuclease 1","omim_gene":["615076"],"alias_name":null,"gene_symbol":"MGME1","hgnc_symbol":"MGME1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:17949556-17971765","ensembl_id":"ENSG00000125871"}},"GRch38":{"90":{"location":"20:17968913-17991122","ensembl_id":"ENSG00000125871"}}},"hgnc_date_symbol_changed":"2013-01-11"},"entity_type":"gene","entity_name":"MGME1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23313956","29572490","28711739"],"evidence":["Expert Review Green","Other","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["mitochondrial DNA depletion syndrome 11 MONDO:0014039"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Hb-5"],"biotype":"protein_coding","hgnc_id":"HGNC:6462","gene_name":"keratin 85","omim_gene":["602767"],"alias_name":["hard keratin type II"],"gene_symbol":"KRT85","hgnc_symbol":"KRT85","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52753790-52761265","ensembl_id":"ENSG00000135443"}},"GRch38":{"90":{"location":"12:52360006-52367481","ensembl_id":"ENSG00000135443"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"KRT85","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ectodermal dysplasia 4, hair/nail type, 602032"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCN2","KIAA1338"],"biotype":"protein_coding","hgnc_id":"HGNC:19687","gene_name":"eukaryotic translation initiation factor 2 alpha kinase 4","omim_gene":["609280"],"alias_name":null,"gene_symbol":"EIF2AK4","hgnc_symbol":"EIF2AK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40226347-40327797","ensembl_id":"ENSG00000128829"}},"GRch38":{"90":{"location":"15:39934146-40035591","ensembl_id":"ENSG00000128829"}}},"hgnc_date_symbol_changed":"2002-11-11"},"entity_type":"gene","entity_name":"EIF2AK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pulmonary venoocclusive disease 2 MIM#234810"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.56","version_created":"2026-03-28T14:21:49.158422+11:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"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":["FLJ11457","JBTS11","NPHP12","IFT139B","THM1"],"biotype":"protein_coding","hgnc_id":"HGNC:25660","gene_name":"tetratricopeptide repeat domain 21B","omim_gene":["612014"],"alias_name":null,"gene_symbol":"TTC21B","hgnc_symbol":"TTC21B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166713985-166810353","ensembl_id":"ENSG00000123607"}},"GRch38":{"90":{"location":"2:165857475-165953843","ensembl_id":"ENSG00000123607"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TTC21B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (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:17151","gene_name":"origin recognition complex subunit 6","omim_gene":["607213"],"alias_name":null,"gene_symbol":"ORC6","hgnc_symbol":"ORC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:46723555-46732306","ensembl_id":"ENSG00000091651"}},"GRch38":{"90":{"location":"16:46689643-46698394","ensembl_id":"ENSG00000091651"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Meier-Gorlin syndrome 3, 613803 (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":["FLJ13154","HVSL1","Mpn1"],"biotype":"protein_coding","hgnc_id":"HGNC:25792","gene_name":"U6 snRNA biogenesis phosphodiesterase 1","omim_gene":["613276"],"alias_name":["HVSL motif containing 1","poikiloderma with neutropenia","U six biogenesis 1","mutated in poikiloderma with neutropenia protein 1"],"gene_symbol":"USB1","hgnc_symbol":"USB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58033450-58055522","ensembl_id":"ENSG00000103005"}},"GRch38":{"90":{"location":"16:57999546-58021618","ensembl_id":"ENSG00000103005"}}},"hgnc_date_symbol_changed":"2012-08-21"},"entity_type":"gene","entity_name":"USB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Poikiloderma with neutropenia, 604173 (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:16902","gene_name":"branched chain ketoacid dehydrogenase kinase","omim_gene":["614901"],"alias_name":null,"gene_symbol":"BCKDK","hgnc_symbol":"BCKDK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31117428-31124110","ensembl_id":"ENSG00000103507"}},"GRch38":{"90":{"location":"16:31106107-31112791","ensembl_id":"ENSG00000103507"}}},"hgnc_date_symbol_changed":"2005-01-20"},"entity_type":"gene","entity_name":"BCKDK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (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":["TFAR15"],"biotype":"protein_coding","hgnc_id":"HGNC:8761","gene_name":"programmed cell death 10","omim_gene":["609118"],"alias_name":null,"gene_symbol":"PDCD10","hgnc_symbol":"PDCD10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:167401086-167452727","ensembl_id":"ENSG00000114209"}},"GRch38":{"90":{"location":"3:167683298-167734939","ensembl_id":"ENSG00000114209"}}},"hgnc_date_symbol_changed":"1999-12-10"},"entity_type":"gene","entity_name":"PDCD10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30356112","15543491"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral cavernous malformations 3 MIM#603285"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12665","gene_name":"vinculin","omim_gene":["193065"],"alias_name":["metavinculin"],"gene_symbol":"VCL","hgnc_symbol":"VCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75757872-75879918","ensembl_id":"ENSG00000035403"}},"GRch38":{"90":{"location":"10:73995193-74121363","ensembl_id":"ENSG00000035403"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"VCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","South West GLH","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 15,","Cardiomyopathy, dilated, 1W"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14263","gene_name":"RAB23, member RAS oncogene family","omim_gene":["606144"],"alias_name":null,"gene_symbol":"RAB23","hgnc_symbol":"RAB23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:57053607-57087078","ensembl_id":"ENSG00000112210"}},"GRch38":{"90":{"location":"6:57186992-57222314","ensembl_id":"ENSG00000112210"}}},"hgnc_date_symbol_changed":"2000-12-18"},"entity_type":"gene","entity_name":"RAB23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Carpenter syndrome"],"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":["CPRP1","KIAA0214","MARF","CMT2A2"],"biotype":"protein_coding","hgnc_id":"HGNC:16877","gene_name":"mitofusin 2","omim_gene":["608507"],"alias_name":null,"gene_symbol":"MFN2","hgnc_symbol":"MFN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12040238-12073571","ensembl_id":"ENSG00000116688"}},"GRch38":{"90":{"location":"1:11980181-12013514","ensembl_id":"ENSG00000116688"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"MFN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DP2","DP3","DP2.5","PPP1R46"],"biotype":"protein_coding","hgnc_id":"HGNC:583","gene_name":"APC, WNT signaling pathway regulator","omim_gene":["611731"],"alias_name":["protein phosphatase 1, regulatory subunit 46"],"gene_symbol":"APC","hgnc_symbol":"APC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:112043195-112181936","ensembl_id":"ENSG00000134982"}},"GRch38":{"90":{"location":"5:112707498-112846239","ensembl_id":"ENSG00000134982"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Adenomatous polyposis coli","Adenomatous polyposis coli, attenuated"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11037","gene_name":"solute carrier family 5 member 2","omim_gene":["182381"],"alias_name":null,"gene_symbol":"SLC5A2","hgnc_symbol":"SLC5A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31494323-31502181","ensembl_id":"ENSG00000140675"}},"GRch38":{"90":{"location":"16:31483002-31490860","ensembl_id":"ENSG00000140675"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"SLC5A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Renal glucosuria"],"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":["CDA-I","CDAI"],"biotype":"protein_coding","hgnc_id":"HGNC:1713","gene_name":"codanin 1","omim_gene":["607465"],"alias_name":null,"gene_symbol":"CDAN1","hgnc_symbol":"CDAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43015757-43029324","ensembl_id":"ENSG00000140326"}},"GRch38":{"90":{"location":"15:42723559-42737126","ensembl_id":"ENSG00000140326"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"CDAN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Anemia, congenital dyserythropoietic, type I"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 21933806","30775048"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type) 603041"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"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":["OSP-L","CPETRL3"],"biotype":"protein_coding","hgnc_id":"HGNC:2033","gene_name":"claudin 10","omim_gene":["617579"],"alias_name":null,"gene_symbol":"CLDN10","hgnc_symbol":"CLDN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96085858-96232013","ensembl_id":"ENSG00000134873"}},"GRch38":{"90":{"location":"13:95433604-95579759","ensembl_id":"ENSG00000134873"}}},"hgnc_date_symbol_changed":"1999-01-22"},"entity_type":"gene","entity_name":"CLDN10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28686597"],"evidence":["Expert Review Green"],"phenotypes":["Disorders of magnesium metabolism","HELIX syndrome MONDO:0060564"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"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":["JM2","XPID","AIID","PIDX","DIETER","SCURFIN"],"biotype":"protein_coding","hgnc_id":"HGNC:6106","gene_name":"forkhead box P3","omim_gene":["300292"],"alias_name":null,"gene_symbol":"FOXP3","hgnc_symbol":"FOXP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49106897-49121288","ensembl_id":"ENSG00000049768"}},"GRch38":{"90":{"location":"X:49250436-49264826","ensembl_id":"ENSG00000049768"}}},"hgnc_date_symbol_changed":"2002-09-20"},"entity_type":"gene","entity_name":"FOXP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["11295725","11137993","33668198","33614561","33330291","32234571"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["treatable"],"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":["RAD10"],"biotype":"protein_coding","hgnc_id":"HGNC:3433","gene_name":"ERCC excision repair 1, endonuclease non-catalytic subunit","omim_gene":["126380"],"alias_name":null,"gene_symbol":"ERCC1","hgnc_symbol":"ERCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45910591-45982086","ensembl_id":"ENSG00000012061"}},"GRch38":{"90":{"location":"19:45407333-45478828","ensembl_id":"ENSG00000012061"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273966","23623389","32557569","26085086","33315086"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Cerebrooculofacioskeletal syndrome 4, MIM# 610758","MONDO:0012554"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4382","gene_name":"G protein subunit alpha 14","omim_gene":["604397"],"alias_name":null,"gene_symbol":"GNA14","hgnc_symbol":"GNA14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80037995-80263223","ensembl_id":"ENSG00000156049"}},"GRch38":{"90":{"location":"9:77423079-77648307","ensembl_id":"ENSG00000156049"}}},"hgnc_date_symbol_changed":"1999-06-10"},"entity_type":"gene","entity_name":"GNA14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Congenital vascular tumours"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.556","version_created":"2026-04-02T15:01:45.343217+11:00","relevant_disorders":[],"stats":{"number_of_genes":2206,"number_of_strs":3,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC14126"],"biotype":"protein_coding","hgnc_id":"HGNC:28209","gene_name":"centrosomal protein 19","omim_gene":["615586"],"alias_name":null,"gene_symbol":"CEP19","hgnc_symbol":"CEP19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:196433148-196439164","ensembl_id":"ENSG00000174007"}},"GRch38":{"90":{"location":"3:196706277-196712293","ensembl_id":"ENSG00000174007"}}},"hgnc_date_symbol_changed":"2011-05-06"},"entity_type":"gene","entity_name":"CEP19","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24268657","29127258"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert list"],"phenotypes":["Morbid obesity and spermatogenic failure, OMIM:615703","Bardet Biedl syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3764,"hash_id":null,"name":"Severe early-onset obesity","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with syndromic and non-syndromic causes of severe, early-onset obesity (weight >3 standard deviations above the mean, with onset before the age of 5 years).\r\n\r\nIf other growth parameters are affected, please consider the Overgrowth and the Macrocephaly_Megalencephaly panels.","status":"public","version":"1.30","version_created":"2026-03-18T15:16:42.995334+11:00","relevant_disorders":["Obesity","HP:0001513"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":3},"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":["EDA1","XLHED","HED","XHED","ED1-A1","ED1-A2","EDA-A1","EDA-A2"],"biotype":"protein_coding","hgnc_id":"HGNC:3157","gene_name":"ectodysplasin A","omim_gene":["300451"],"alias_name":null,"gene_symbol":"EDA","hgnc_symbol":"EDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68835911-69259319","ensembl_id":"ENSG00000158813"}},"GRch38":{"90":{"location":"X:69616067-70039469","ensembl_id":"ENSG00000158813"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"EDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27144394","8696334","9507389","9683615","18657636"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11573","gene_name":"tyrosine aminotransferase","omim_gene":["613018"],"alias_name":null,"gene_symbol":"TAT","hgnc_symbol":"TAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:71599563-71611033","ensembl_id":"ENSG00000198650"}},"GRch38":{"90":{"location":"16:71565660-71577130","ensembl_id":"ENSG00000198650"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9544843","16917729"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["tyrosinemia type II MONDO:0010160"],"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:3791","gene_name":"folate receptor 1","omim_gene":["136430"],"alias_name":["folate receptor alpha"],"gene_symbol":"FOLR1","hgnc_symbol":"FOLR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71900602-71907345","ensembl_id":"ENSG00000110195"}},"GRch38":{"90":{"location":"11:72189558-72196323","ensembl_id":"ENSG00000110195"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"FOLR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19732866","30420205","27743887"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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":["CaT2"],"biotype":"protein_coding","hgnc_id":"HGNC:3145","gene_name":"transient receptor potential cation channel subfamily V member 5","omim_gene":["606679"],"alias_name":null,"gene_symbol":"TRPV5","hgnc_symbol":"TRPV5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142605267-142630905","ensembl_id":"ENSG00000127412"}},"GRch38":{"90":{"location":"7:142908101-142933808","ensembl_id":"ENSG00000127412"}}},"hgnc_date_symbol_changed":"2002-02-01"},"entity_type":"gene","entity_name":"TRPV5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38528055","14679186"],"evidence":["Expert Review Red","Literature"],"phenotypes":["TRPV5-related hypercalciuria (MONDO:0009550)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["G25K","CDC42Hs"],"biotype":"protein_coding","hgnc_id":"HGNC:1736","gene_name":"cell division cycle 42","omim_gene":["116952"],"alias_name":["GTP binding protein, 25kDa"],"gene_symbol":"CDC42","hgnc_symbol":"CDC42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:22379120-22419437","ensembl_id":"ENSG00000070831"}},"GRch38":{"90":{"location":"1:22052627-22092946","ensembl_id":"ENSG00000070831"}}},"hgnc_date_symbol_changed":"1991-06-06"},"entity_type":"gene","entity_name":"CDC42","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29394990"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Takenouchi-Kosaki syndrome, MIM#616737"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EPC-1","PIG35"],"biotype":"protein_coding","hgnc_id":"HGNC:8824","gene_name":"serpin family F member 1","omim_gene":["172860"],"alias_name":["pigment epithelium-derived factor","proliferation-inducing protein 35"],"gene_symbol":"SERPINF1","hgnc_symbol":"SERPINF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1665253-1680868","ensembl_id":"ENSG00000132386"}},"GRch38":{"90":{"location":"17:1761959-1777574","ensembl_id":"ENSG00000132386"}}},"hgnc_date_symbol_changed":"1993-05-18"},"entity_type":"gene","entity_name":"SERPINF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28689307"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type VI, MIM# 613982"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D22S676","D22S750","TC2"],"biotype":"protein_coding","hgnc_id":"HGNC:11653","gene_name":"transcobalamin 2","omim_gene":["613441"],"alias_name":["macrocytic anemia"],"gene_symbol":"TCN2","hgnc_symbol":"TCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31002825-31023265","ensembl_id":"ENSG00000185339"}},"GRch38":{"90":{"location":"22:30606838-30627278","ensembl_id":"ENSG00000185339"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TCN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19373259","32841161","33023511","30124850"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Transcobalamin II deficiency MIM#275350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6294","gene_name":"potassium voltage-gated channel subfamily Q member 1","omim_gene":["607542"],"alias_name":["Jervell and Lange-Nielsen syndrome 1"],"gene_symbol":"KCNQ1","hgnc_symbol":"KCNQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2465914-2870339","ensembl_id":"ENSG00000053918"}},"GRch38":{"90":{"location":"11:2444684-2849109","ensembl_id":"ENSG00000053918"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"KCNQ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29033053","28438721","9020846","29037160","20301579"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Jervell and Lange-Nielsen syndrome MIM#220400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SUTAL","BLOC2S1"],"biotype":"protein_coding","hgnc_id":"HGNC:15597","gene_name":"HPS3, biogenesis of lysosomal organelles complex 2 subunit 1","omim_gene":["606118"],"alias_name":null,"gene_symbol":"HPS3","hgnc_symbol":"HPS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:148847371-148891519","ensembl_id":"ENSG00000163755"}},"GRch38":{"90":{"location":"3:149129584-149173732","ensembl_id":"ENSG00000163755"}}},"hgnc_date_symbol_changed":"2001-06-13"},"entity_type":"gene","entity_name":"HPS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11455388","31880485","31621111","30990103"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hermansky-Pudlak syndrome 3 MIM#614072"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2867","gene_name":"dihydroorotate dehydrogenase (quinone)","omim_gene":["126064"],"alias_name":null,"gene_symbol":"DHODH","hgnc_symbol":"DHODH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72042487-72058954","ensembl_id":"ENSG00000102967"}},"GRch38":{"90":{"location":"16:72008588-72027664","ensembl_id":"ENSG00000102967"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"DHODH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19915526"],"evidence":["Expert Review Green","Expert Review Green","Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Miller syndrome MIM#263750","Disorders of pyrimidine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P57","KIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:1786","gene_name":"cyclin dependent kinase inhibitor 1C","omim_gene":["600856"],"alias_name":null,"gene_symbol":"CDKN1C","hgnc_symbol":"CDKN1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2904443-2907111","ensembl_id":"ENSG00000129757"}},"GRch38":{"90":{"location":"11:2883213-2885881","ensembl_id":"ENSG00000129757"}}},"hgnc_date_symbol_changed":"1995-09-14"},"entity_type":"gene","entity_name":"CDKN1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Beckwith-Wiedemann syndrome due to CDKN1C mutation, MONDO:0016476","Beckwith-Wiedemann syndrome, MIM#130650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PPIase","FKBP36"],"biotype":"protein_coding","hgnc_id":"HGNC:3722","gene_name":"FK506 binding protein 6","omim_gene":["604839"],"alias_name":["FK506 binding protein 6 (36kD)","peptidylprolyl cis-trans isomerase","rotamase","immunophilin FKBP36"],"gene_symbol":"FKBP6","hgnc_symbol":"FKBP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:72742167-72772634","ensembl_id":"ENSG00000077800"}},"GRch38":{"90":{"location":"7:73328164-73358637","ensembl_id":"ENSG00000077800"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"FKBP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36150389"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 77, MIM# 620103"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}