{"count":36124,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=128","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=126","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:620","gene_name":"amyloid beta precursor protein","omim_gene":["104760"],"alias_name":["peptidase nexin-II"],"gene_symbol":"APP","hgnc_symbol":"APP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:27252861-27543446","ensembl_id":"ENSG00000142192"}},"GRch38":{"90":{"location":"21:25880550-26171128","ensembl_id":"ENSG00000142192"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"APP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["20301340","1671712","1678058","1908231","1302033"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Alzheimer disease MONDO:0007088"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"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":"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":["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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.49","version_created":"2026-04-23T12:45:48.200383+10:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11945","gene_name":"troponin I1, slow skeletal type","omim_gene":["191042"],"alias_name":null,"gene_symbol":"TNNI1","hgnc_symbol":"TNNI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201373625-201398994","ensembl_id":"ENSG00000159173"}},"GRch38":{"90":{"location":"1:201403768-201429866","ensembl_id":"ENSG00000159173"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"TNNI1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34934811"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Arthrogryposis MONDO:0008779, TNNI1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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 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pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.78","version_created":"2026-04-28T15:02:15.205532+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B23","NPM"],"biotype":"protein_coding","hgnc_id":"HGNC:7910","gene_name":"nucleophosmin 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decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.145","version_created":"2026-04-29T13:45:06.770739+10:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"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":[]},{"gene_data":{"alias":["FHH","NSHPT","GPRC2A"],"biotype":"protein_coding","hgnc_id":"HGNC:1514","gene_name":"calcium sensing receptor","omim_gene":["601199"],"alias_name":["severe neonatal hyperparathyroidism"],"gene_symbol":"CASR","hgnc_symbol":"CASR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121902530-122005342","ensembl_id":"ENSG00000036828"}},"GRch38":{"90":{"location":"3:122183683-122291629","ensembl_id":"ENSG00000036828"}}},"hgnc_date_symbol_changed":"1992-12-04"},"entity_type":"gene","entity_name":"CASR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32775520","35402765","8733126","8813042"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypocalcemia, autosomal dominant, MIM# 601198"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.9","version_created":"2026-04-27T16:21:49.971882+10:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:713","gene_name":"arylsulfatase A","omim_gene":["607574"],"alias_name":["metachromatic leucodystrophy"],"gene_symbol":"ARSA","hgnc_symbol":"ARSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51061182-51066607","ensembl_id":"ENSG00000100299"}},"GRch38":{"90":{"location":"22:50622754-50628173","ensembl_id":"ENSG00000100299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Metachromatic leukodystrophy, MIM#250100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"1.412","version_created":"2026-04-29T13:55:13.542887+10:00","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":["RTS","CBP","KAT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:2348","gene_name":"CREB binding protein","omim_gene":["600140"],"alias_name":null,"gene_symbol":"CREBBP","hgnc_symbol":"CREBBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3775055-3930727","ensembl_id":"ENSG00000005339"}},"GRch38":{"90":{"location":"16:3725054-3880726","ensembl_id":"ENSG00000005339"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"CREBBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Rubinstein-Taybi syndrome 1 , MIM#180849"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital 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It contains conditions caused by defects in the motile cilia, primarily those presenting with respiratory phenotypes. It also contains a small number of other genes that cause conditions with significant phenotypic overlap.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Respiratory Ciliopathies including non-CF bronchiectasis' panel V1.3, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.77","version_created":"2026-04-23T20:31:13.525757+10:00","relevant_disorders":["Ciliary dyskinesia HP:0012265;Recurrent respiratory infections HP:0002205"],"stats":{"number_of_genes":77,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Talpid3","JBTS23"],"biotype":"protein_coding","hgnc_id":"HGNC:19960","gene_name":"KIAA0586","omim_gene":["610178"],"alias_name":null,"gene_symbol":"KIAA0586","hgnc_symbol":"KIAA0586","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:58894103-59015216","ensembl_id":"ENSG00000100578"}},"GRch38":{"90":{"location":"14:58427385-58551289","ensembl_id":"ENSG00000100578"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0586","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26096313","26166481"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 23 616490","Short-rib thoracic dysplasia 14 with polydactyly 616546"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["RFLAT-1","BTEB3","NSLP1","FKLF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:13672","gene_name":"Kruppel like factor 13","omim_gene":["605328"],"alias_name":null,"gene_symbol":"KLF13","hgnc_symbol":"KLF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:31619058-31727868","ensembl_id":"ENSG00000169926"}},"GRch38":{"90":{"location":"15:31326855-31435665","ensembl_id":"ENSG00000169926"}}},"hgnc_date_symbol_changed":"2000-09-28"},"entity_type":"gene","entity_name":"KLF13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36346048","41201692"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Dilated cardiomyopathy - MONDO:0005021, KLF13-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"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:2202","gene_name":"collagen type IV alpha 1 chain","omim_gene":["120130"],"alias_name":null,"gene_symbol":"COL4A1","hgnc_symbol":"COL4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:110801318-110959496","ensembl_id":"ENSG00000187498"}},"GRch38":{"90":{"location":"13:110148963-110307149","ensembl_id":"ENSG00000187498"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A1","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":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DHCR14B","TDRD18"],"biotype":"protein_coding","hgnc_id":"HGNC:6518","gene_name":"lamin B receptor","omim_gene":["600024"],"alias_name":["tudor domain containing 18"],"gene_symbol":"LBR","hgnc_symbol":"LBR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:225589204-225616627","ensembl_id":"ENSG00000143815"}},"GRch38":{"90":{"location":"1:225401502-225428925","ensembl_id":"ENSG00000143815"}}},"hgnc_date_symbol_changed":"1995-04-27"},"entity_type":"gene","entity_name":"LBR","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":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATK","XLA","PSCTK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1133","gene_name":"Bruton tyrosine kinase","omim_gene":["300300"],"alias_name":["Bruton's tyrosine kinase"],"gene_symbol":"BTK","hgnc_symbol":"BTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100604435-100641183","ensembl_id":"ENSG00000010671"}},"GRch38":{"90":{"location":"X:101349447-101390796","ensembl_id":"ENSG00000010671"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"BTK","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":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XLP","MTCP1","DSHP","XLPD","EBVS","SAP"],"biotype":"protein_coding","hgnc_id":"HGNC:10820","gene_name":"SH2 domain containing 1A","omim_gene":["300490"],"alias_name":["Duncan's disease"],"gene_symbol":"SH2D1A","hgnc_symbol":"SH2D1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:123480194-123507005","ensembl_id":"ENSG00000183918"}},"GRch38":{"90":{"location":"X:124227868-124373197","ensembl_id":"ENSG00000183918"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"SH2D1A","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":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FEZ1"],"biotype":"protein_coding","hgnc_id":"HGNC:13861","gene_name":"leucine zipper tumor suppressor 1","omim_gene":["606551"],"alias_name":["F37/Esophageal cancer-related gene-coding leucine-zipper motif"],"gene_symbol":"LZTS1","hgnc_symbol":"LZTS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:20103676-20161474","ensembl_id":"ENSG00000061337"}},"GRch38":{"90":{"location":"8:20246165-20303963","ensembl_id":"ENSG00000061337"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"LZTS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Esophageal squamous cell carcinoma, somatic, MIM# 133239"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COQ8","SCAR9"],"biotype":"protein_coding","hgnc_id":"HGNC:16812","gene_name":"coenzyme Q8A","omim_gene":["606980"],"alias_name":["coenzyme Q8 homolog (yeast)"],"gene_symbol":"COQ8A","hgnc_symbol":"COQ8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:227085237-227175246","ensembl_id":"ENSG00000163050"}},"GRch38":{"90":{"location":"1:226897536-226987545","ensembl_id":"ENSG00000163050"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"COQ8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32337771"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coenzyme Q10 deficiency, primary, 4 MIM#612016"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D2LIC","LIC3","CGI-60","DKFZP564A033"],"biotype":"protein_coding","hgnc_id":"HGNC:24595","gene_name":"dynein cytoplasmic 2 light intermediate chain 1","omim_gene":["617083"],"alias_name":null,"gene_symbol":"DYNC2LI1","hgnc_symbol":"DYNC2LI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44001178-44037149","ensembl_id":"ENSG00000138036"}},"GRch38":{"90":{"location":"2:43774039-43810010","ensembl_id":"ENSG00000138036"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"DYNC2LI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33030252"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Tyro11"],"biotype":"protein_coding","hgnc_id":"HGNC:3395","gene_name":"EPH receptor B4","omim_gene":["600011"],"alias_name":null,"gene_symbol":"EPHB4","hgnc_symbol":"EPHB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100400187-100425121","ensembl_id":"ENSG00000196411"}},"GRch38":{"90":{"location":"7:100802565-100827521","ensembl_id":"ENSG00000196411"}}},"hgnc_date_symbol_changed":"1994-12-15"},"entity_type":"gene","entity_name":"EPHB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27400125","28687708","29444212","29905864","30578106","30819650"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Capillary malformation-arteriovenous malformation 2 (MIM#618196), AD","Lymphatic malformation 7 (MIM#617300), AD"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD42a","GPIX"],"biotype":"protein_coding","hgnc_id":"HGNC:4444","gene_name":"glycoprotein IX platelet","omim_gene":["173515"],"alias_name":["platelet glycoprotein IX"],"gene_symbol":"GP9","hgnc_symbol":"GP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128779610-128781249","ensembl_id":"ENSG00000169704"}},"GRch38":{"90":{"location":"3:129060767-129062406","ensembl_id":"ENSG00000169704"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"GP9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8049428","33553065","32030720","31484196"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bernard-Soulier syndrome, type C, MIM# 231200"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NMB","HGFIN"],"biotype":"protein_coding","hgnc_id":"HGNC:4462","gene_name":"glycoprotein nmb","omim_gene":["604368"],"alias_name":["transmembrane glycoprotein","glycoprotein NMB","glycoprotein nmb-like protein","osteoactivin","hematopoietic growth factor inducible neurokinin-1","glycoprotein nonmetastatic melanoma protein B"],"gene_symbol":"GPNMB","hgnc_symbol":"GPNMB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:23275586-23314727","ensembl_id":"ENSG00000136235"}},"GRch38":{"90":{"location":"7:23235967-23275108","ensembl_id":"ENSG00000136235"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"GPNMB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29336782"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amyloidosis, primary localized cutaneous, 3, MIM# 617920"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20061","IPT"],"biotype":"protein_coding","hgnc_id":"HGNC:20286","gene_name":"tRNA isopentenyltransferase 1","omim_gene":null,"alias_name":null,"gene_symbol":"TRIT1","hgnc_symbol":"TRIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40306723-40349183","ensembl_id":"ENSG00000043514"}},"GRch38":{"90":{"location":"1:39841022-39883511","ensembl_id":"ENSG00000043514"}}},"hgnc_date_symbol_changed":"2004-01-15"},"entity_type":"gene","entity_name":"TRIT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32088416","24901367","28185376","30977854"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 35, MIM#617873"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RA70","SKAP-HOM","SKAP55R","SAPS"],"biotype":"protein_coding","hgnc_id":"HGNC:15687","gene_name":"src kinase associated phosphoprotein 2","omim_gene":["605215"],"alias_name":null,"gene_symbol":"SKAP2","hgnc_symbol":"SKAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:26706681-27034858","ensembl_id":"ENSG00000005020"}},"GRch38":{"90":{"location":"7:26667062-26995239","ensembl_id":"ENSG00000005020"}}},"hgnc_date_symbol_changed":"2006-09-28"},"entity_type":"gene","entity_name":"SKAP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40771593","34172489"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IPO3","KPNB2B","FLJ12155","TRN2"],"biotype":"protein_coding","hgnc_id":"HGNC:19998","gene_name":"transportin 2","omim_gene":["603002"],"alias_name":["importin 3","karyopherin beta 2b"],"gene_symbol":"TNPO2","hgnc_symbol":"TNPO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12810008-12834825","ensembl_id":"ENSG00000105576"}},"GRch38":{"90":{"location":"19:12699194-12724011","ensembl_id":"ENSG00000105576"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"TNPO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 34314705"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLCRG2"],"biotype":"protein_coding","hgnc_id":"HGNC:2016","gene_name":"chloride channel accessory 2","omim_gene":["604003"],"alias_name":null,"gene_symbol":"CLCA2","hgnc_symbol":"CLCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:86889769-86922241","ensembl_id":"ENSG00000137975"}},"GRch38":{"90":{"location":"1:86424086-86456558","ensembl_id":"ENSG00000137975"}}},"hgnc_date_symbol_changed":"1998-09-29"},"entity_type":"gene","entity_name":"CLCA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31326550"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["heart conduction disease MONDO:0000992"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ43249","LOC165186","Crescerin-2"],"biotype":"protein_coding","hgnc_id":"HGNC:33715","gene_name":"TOG array regulator of axonemal microtubules 2","omim_gene":null,"alias_name":["crescerin 2"],"gene_symbol":"TOGARAM2","hgnc_symbol":"TOGARAM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:29179477-29284239","ensembl_id":"ENSG00000189350"}},"GRch38":{"90":{"location":"2:28956611-29061373","ensembl_id":"ENSG00000189350"}}},"hgnc_date_symbol_changed":"2017-01-13"},"entity_type":"gene","entity_name":"TOGARAM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:38374469"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Nonsyndromic genetic hearing loss (MONDO:0019497), TOGARAM2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GP-1","HSPC018"],"biotype":"protein_coding","hgnc_id":"HGNC:4669","gene_name":"GTP binding protein 1","omim_gene":["602245"],"alias_name":null,"gene_symbol":"GTPBP1","hgnc_symbol":"GTPBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39101728-39134304","ensembl_id":"ENSG00000100226"}},"GRch38":{"90":{"location":"22:38705723-38738299","ensembl_id":"ENSG00000100226"}}},"hgnc_date_symbol_changed":"1999-04-22"},"entity_type":"gene","entity_name":"GTPBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38118446"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ER71"],"biotype":"protein_coding","hgnc_id":"HGNC:3491","gene_name":"ETS variant 2","omim_gene":["609358"],"alias_name":null,"gene_symbol":"ETV2","hgnc_symbol":"ETV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36132647-36135773","ensembl_id":"ENSG00000105672"}},"GRch38":{"90":{"location":"19:35641745-35644871","ensembl_id":"ENSG00000105672"}}},"hgnc_date_symbol_changed":"1994-05-02"},"entity_type":"gene","entity_name":"ETV2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33359164"],"evidence":["Expert Review Red","Literature"],"phenotypes":["multiple fetal anomalies","congenital heart disease MONDO:000545, ETV2-related","vertebral malformations"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IPLA2G","IPLA2-2","iPLA2gamma"],"biotype":"protein_coding","hgnc_id":"HGNC:28900","gene_name":"patatin like phospholipase domain containing 8","omim_gene":["612123"],"alias_name":null,"gene_symbol":"PNPLA8","hgnc_symbol":"PNPLA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:108110866-108210110","ensembl_id":"ENSG00000135241"}},"GRch38":{"90":{"location":"7:108470422-108569666","ensembl_id":"ENSG00000135241"}}},"hgnc_date_symbol_changed":"2006-06-12"},"entity_type":"gene","entity_name":"PNPLA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 39082157"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related"],"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":"1.434","version_created":"2026-04-30T15:02:27.868954+10:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":384,"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":["KIAA0442","FBRSL2"],"biotype":"protein_coding","hgnc_id":"HGNC:14262","gene_name":"AUTS2, activator of transcription and developmental regulator","omim_gene":["607270"],"alias_name":null,"gene_symbol":"AUTS2","hgnc_symbol":"AUTS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:69063905-70258054","ensembl_id":"ENSG00000158321"}},"GRch38":{"90":{"location":"7:69598919-70793068","ensembl_id":"ENSG00000158321"}}},"hgnc_date_symbol_changed":"2002-11-20"},"entity_type":"gene","entity_name":"AUTS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35802027","34573342"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 26\tMIM#615834"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.434","version_created":"2026-04-30T15:02:27.868954+10:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":384,"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":["MINION"],"biotype":"protein_coding","hgnc_id":"HGNC:52391","gene_name":"myomixer, myoblast fusion factor","omim_gene":null,"alias_name":["microprotein inducer of fusion","myomerger"],"gene_symbol":"MYMX","hgnc_symbol":"MYMX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44184676-44185973","ensembl_id":"ENSG00000262179"}},"GRch38":{"90":{"location":"6:44216939-44218236","ensembl_id":"ENSG00000262179"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35642635"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Carey-Fineman-Ziter syndrome MONDO:0009700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"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":["CLC-7","OPTA2","CLC7","ClC-7","PPP1R63"],"biotype":"protein_coding","hgnc_id":"HGNC:2025","gene_name":"chloride voltage-gated channel 7","omim_gene":["602727"],"alias_name":["protein phosphatase 1, regulatory subunit 63"],"gene_symbol":"CLCN7","hgnc_symbol":"CLCN7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1494935-1525581","ensembl_id":"ENSG00000103249"}},"GRch38":{"90":{"location":"16:1444934-1475580","ensembl_id":"ENSG00000103249"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"CLCN7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11207362","15231021","17033731","19507210","32048120"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 4, MIM#611490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ1112F19.1","ZNF797"],"biotype":"protein_coding","hgnc_id":"HGNC:15924","gene_name":"spalt like transcription factor 4","omim_gene":["607343"],"alias_name":null,"gene_symbol":"SALL4","hgnc_symbol":"SALL4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:50400581-50419059","ensembl_id":"ENSG00000101115"}},"GRch38":{"90":{"location":"20:51782331-51802520","ensembl_id":"ENSG00000101115"}}},"hgnc_date_symbol_changed":"2001-06-21"},"entity_type":"gene","entity_name":"SALL4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10547","gene_name":"sterol-C5-desaturase","omim_gene":["602286"],"alias_name":["lathosterol oxidase"],"gene_symbol":"SC5D","hgnc_symbol":"SC5D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:121163162-121179403","ensembl_id":"ENSG00000109929"}},"GRch38":{"90":{"location":"11:121292453-121308694","ensembl_id":"ENSG00000109929"}}},"hgnc_date_symbol_changed":"2013-03-04"},"entity_type":"gene","entity_name":"SC5D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","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":["CD116","alphaGMR"],"biotype":"protein_coding","hgnc_id":"HGNC:2435","gene_name":"colony stimulating factor 2 receptor alpha subunit","omim_gene":["306250","425000"],"alias_name":["alpha-GM-CSF receptor"],"gene_symbol":"CSF2RA","hgnc_symbol":"CSF2RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:1387693-1429274","ensembl_id":"ENSG00000198223"}},"GRch38":{"90":{"location":"X:1268800-1310381","ensembl_id":"ENSG00000198223"}}},"hgnc_date_symbol_changed":"1990-07-03"},"entity_type":"gene","entity_name":"CSF2RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20622029","25425184","18955570"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.11","version_created":"2026-04-28T14:26:42.495816+10:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":98,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["2310047H23Rik","FLJ22625"],"biotype":"protein_coding","hgnc_id":"HGNC:20652","gene_name":"thioredoxin domain containing 15","omim_gene":null,"alias_name":null,"gene_symbol":"TXNDC15","hgnc_symbol":"TXNDC15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:134209493-134237215","ensembl_id":"ENSG00000113621"}},"GRch38":{"90":{"location":"5:134873803-134901525","ensembl_id":"ENSG00000113621"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"TXNDC15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30851085","27894351"],"evidence":["Expert Review Green","Expert Review","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Meckel syndrome 14, MIM# 619879"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4341","gene_name":"glutamate-ammonia ligase","omim_gene":["138290"],"alias_name":["glutamine synthetase"],"gene_symbol":"GLUL","hgnc_symbol":"GLUL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182350839-182361341","ensembl_id":"ENSG00000135821"}},"GRch38":{"90":{"location":"1:182381704-182392206","ensembl_id":"ENSG00000135821"}}},"hgnc_date_symbol_changed":"1988-11-30"},"entity_type":"gene","entity_name":"GLUL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16267323","21353613","33150193"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Glutamine deficiency, congenital MIM#610015","Developmental and epileptic encephalopathy 116, MIM# 620806"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.414","version_created":"2026-04-29T19:08:58.015652+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1157,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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","Victorian Clinical Genetics Services"],"phenotypes":["Brain malformations with or without urinary tract defects - MIM#613735"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25530","hepaCAM","GLIALCAM"],"biotype":"protein_coding","hgnc_id":"HGNC:26361","gene_name":"hepatic and glial cell adhesion molecule","omim_gene":["611642"],"alias_name":["glial cell adhesion molecule"],"gene_symbol":"HEPACAM","hgnc_symbol":"HEPACAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124789089-124806308","ensembl_id":"ENSG00000165478"}},"GRch38":{"90":{"location":"11:124919193-124936412","ensembl_id":"ENSG00000165478"}}},"hgnc_date_symbol_changed":"2007-01-22"},"entity_type":"gene","entity_name":"HEPACAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TR-AP","PAF400","Tra1"],"biotype":"protein_coding","hgnc_id":"HGNC:12347","gene_name":"transformation/transcription domain associated protein","omim_gene":["603015"],"alias_name":null,"gene_symbol":"TRRAP","hgnc_symbol":"TRRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:98475556-98610866","ensembl_id":"ENSG00000196367"}},"GRch38":{"90":{"location":"7:98877933-99013243","ensembl_id":"ENSG00000196367"}}},"hgnc_date_symbol_changed":"1998-10-06"},"entity_type":"gene","entity_name":"TRRAP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31231791"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Deafness, autosomal dominant 75  MIM#618778"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4796","gene_name":"3-hydroxyanthranilate 3,4-dioxygenase","omim_gene":["604521"],"alias_name":null,"gene_symbol":"HAAO","hgnc_symbol":"HAAO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:42994229-43019733","ensembl_id":"ENSG00000162882"}},"GRch38":{"90":{"location":"2:42767089-42792593","ensembl_id":"ENSG00000162882"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"HAAO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28792876","33942433"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#\t617660"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["iNOS","NOS","HEP-NOS"],"biotype":"protein_coding","hgnc_id":"HGNC:7873","gene_name":"nitric oxide synthase 2","omim_gene":["163730"],"alias_name":null,"gene_symbol":"NOS2","hgnc_symbol":"NOS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26083792-26127525","ensembl_id":"ENSG00000007171"}},"GRch38":{"90":{"location":"17:27756766-27800499","ensembl_id":"ENSG00000007171"}}},"hgnc_date_symbol_changed":"2008-09-16"},"entity_type":"gene","entity_name":"NOS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31995689"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Disseminated CMV disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":237,"hash_id":null,"name":"Susceptibility to Viral Infections","disease_group":"Immunological disorders","disease_sub_group":"","description":"This 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). 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, 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and Oculocutaneous Albinism, Achromatopsia panels and the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.8","version_created":"2023-01-03T16:07:58.595847+11:00","relevant_disorders":["Abnormal foveal morphology","HP:0000493"],"stats":{"number_of_genes":2,"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:8522","gene_name":"orthodenticle homeobox 2","omim_gene":["600037"],"alias_name":null,"gene_symbol":"OTX2","hgnc_symbol":"OTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57267425-57277197","ensembl_id":"ENSG00000165588"}},"GRch38":{"90":{"location":"14:56799905-56810479","ensembl_id":"ENSG00000165588"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"OTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19965921","22715480","18628516","18728160"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 6 (613986)","Microphthalmia, syndromic 5 (610125)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.226","version_created":"2026-04-23T15:35:12.037215+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":128,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGCR","GC79"],"biotype":"protein_coding","hgnc_id":"HGNC:12340","gene_name":"transcriptional repressor GATA binding 1","omim_gene":["604386"],"alias_name":null,"gene_symbol":"TRPS1","hgnc_symbol":"TRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:116420724-116821899","ensembl_id":"ENSG00000104447"}},"GRch38":{"90":{"location":"8:115408496-115809673","ensembl_id":"ENSG00000104447"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"TRPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31332722"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Trichorhinophalangeal syndrome, type III, 190351","Trichorhinophalangeal syndrome, type I, 190350"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.88","version_created":"2026-04-29T17:14:39.076685+10:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"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":["CDK4I","p16","INK4a","MTS1","CMM2","ARF","p19","p14","INK4","p16INK4a","p19Arf","p14ARF"],"biotype":"protein_coding","hgnc_id":"HGNC:1787","gene_name":"cyclin dependent kinase inhibitor 2A","omim_gene":["600160"],"alias_name":null,"gene_symbol":"CDKN2A","hgnc_symbol":"CDKN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:21967751-21995300","ensembl_id":"ENSG00000147889"}},"GRch38":{"90":{"location":"9:21967753-21995301","ensembl_id":"ENSG00000147889"}}},"hgnc_date_symbol_changed":"1994-05-19"},"entity_type":"gene","entity_name":"CDKN2A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Melanoma"],"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":["BART"],"biotype":"protein_coding","hgnc_id":"HGNC:16512","gene_name":"barttin CLCNK type accessory beta subunit","omim_gene":["606412"],"alias_name":null,"gene_symbol":"BSND","hgnc_symbol":"BSND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55464606-55476556","ensembl_id":"ENSG00000162399"}},"GRch38":{"90":{"location":"1:54998933-55010883","ensembl_id":"ENSG00000162399"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"BSND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Bartter syndrome with sensorineural deafness"],"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":["MRP-S22","GK002","C3orf5","GIBT"],"biotype":"protein_coding","hgnc_id":"HGNC:14508","gene_name":"mitochondrial ribosomal protein S22","omim_gene":["605810"],"alias_name":null,"gene_symbol":"MRPS22","hgnc_symbol":"MRPS22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:138724648-139076065","ensembl_id":"ENSG00000175110"}},"GRch38":{"90":{"location":"3:139005806-139357223","ensembl_id":"ENSG00000175110"}}},"hgnc_date_symbol_changed":"2001-01-26"},"entity_type":"gene","entity_name":"MRPS22","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Mitochondrial respiratory chain disorder"],"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":["TDP-43","ALS10"],"biotype":"protein_coding","hgnc_id":"HGNC:11571","gene_name":"TAR DNA binding protein","omim_gene":["605078"],"alias_name":null,"gene_symbol":"TARDBP","hgnc_symbol":"TARDBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11072414-11085796","ensembl_id":"ENSG00000120948"}},"GRch38":{"90":{"location":"1:11012344-11026420","ensembl_id":"ENSG00000120948"}}},"hgnc_date_symbol_changed":"2000-01-28"},"entity_type":"gene","entity_name":"TARDBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NSW Health Pathology"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["M-SemaK","KIAA0331","coll-5"],"biotype":"protein_coding","hgnc_id":"HGNC:10727","gene_name":"semaphorin 3E","omim_gene":["608166"],"alias_name":["M-sema H"],"gene_symbol":"SEMA3E","hgnc_symbol":"SEMA3E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:82993222-83278326","ensembl_id":"ENSG00000170381"}},"GRch38":{"90":{"location":"7:83363906-83649010","ensembl_id":"ENSG00000170381"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"SEMA3E","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15235037","31691538","31464029"],"evidence":["Expert Review Red","Genomics England PanelApp","Radboud University Medical Center, Nijmegen"],"phenotypes":["CHARGE syndrome, MIM# 214800","MONDO:0008965"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3498,"hash_id":null,"name":"Choanal atresia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.6","version_created":"2024-10-03T11:49:26.278825+10:00","relevant_disorders":["Choanal atresia HP:0000453"],"stats":{"number_of_genes":16,"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: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":["21358632","21358631","33338304","22333897"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Meier-Gorlin syndrome 3, MIM# 613803"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.107","version_created":"2026-04-30T15:03:50.139368+10:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PYPAF3","NOD12","PAN7","CLR19.4"],"biotype":"protein_coding","hgnc_id":"HGNC:22947","gene_name":"NLR family pyrin domain containing 7","omim_gene":["609661"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"],"gene_symbol":"NLRP7","hgnc_symbol":"NLRP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:55434877-55477680","ensembl_id":"ENSG00000167634"}},"GRch38":{"90":{"location":"19:54923509-54966312","ensembl_id":"ENSG00000167634"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRP7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28916717","31201414","16462743","28561018","29574422","19246479","22315435","19066229","23722513","23125094"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Affected tissue: all (incompatible with life)","hydatidiform mole, recurrent, 1 MONDO:0009273","Phenotype resulting from under expression: Biparental complete hydatidiform mole","Multi Locus Imprinting Disturbance"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.11","version_created":"2026-04-26T14:04:42.581528+10:00","relevant_disorders":[],"stats":{"number_of_genes":26,"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":["SRA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11204","gene_name":"SRY-box 9","omim_gene":["608160"],"alias_name":null,"gene_symbol":"SOX9","hgnc_symbol":"SOX9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:70117161-70122561","ensembl_id":"ENSG00000125398"}},"GRch38":{"90":{"location":"17:72121020-72126420","ensembl_id":"ENSG00000125398"}}},"hgnc_date_symbol_changed":"1992-09-25"},"entity_type":"gene","entity_name":"SOX9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Campomelic dysplasia with autosomal sex reversal 114290"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11061","FLJ13244","MGC71859"],"biotype":"protein_coding","hgnc_id":"HGNC:7608","gene_name":"myosin IXA","omim_gene":["604875"],"alias_name":null,"gene_symbol":"MYO9A","hgnc_symbol":"MYO9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72114632-72410918","ensembl_id":"ENSG00000066933"}},"GRch38":{"90":{"location":"15:71822289-72118577","ensembl_id":"ENSG00000066933"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO9A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27259756","29462312","26752647","31130284","30237576"],"evidence":["Expert Review Amber","Genomics England PanelApp","Literature"],"phenotypes":["Myasthenic syndrome, congenital, 24, presynaptic, OMIM:618198","Myasthenic syndrome, congenital, 24, presynaptic, MONDO:0032597"],"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. 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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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MU-ARP2","MU-4","SPG50"],"biotype":"protein_coding","hgnc_id":"HGNC:574","gene_name":"adaptor related protein complex 4 mu 1 subunit","omim_gene":["602296"],"alias_name":["mu-adaptin-related protein-2","mu subunit of AP-4","AP-4 adapter complex mu subunit","adaptor-related protein complex AP-4 mu4 subunit"],"gene_symbol":"AP4M1","hgnc_symbol":"AP4M1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:99699172-99707968","ensembl_id":"ENSG00000221838"}},"GRch38":{"90":{"location":"7:100101549-100110345","ensembl_id":"ENSG00000221838"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4M1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19559397","21937992","21937992","32979048","31915823","29096665","28464862","25496299"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Spastic paraplegia 50, autosomal recessive, MIM# 612936"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRP-S12","MGC2616"],"biotype":"protein_coding","hgnc_id":"HGNC:16618","gene_name":"mitochondrial ribosomal protein S34","omim_gene":["611994"],"alias_name":null,"gene_symbol":"MRPS34","hgnc_symbol":"MRPS34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1821891-1823156","ensembl_id":"ENSG00000074071"}},"GRch38":{"90":{"location":"16:1771890-1773155","ensembl_id":"ENSG00000074071"}}},"hgnc_date_symbol_changed":"2001-09-18"},"entity_type":"gene","entity_name":"MRPS34","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28777931"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 32, MIM# 617664"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HFH-4","HFH4"],"biotype":"protein_coding","hgnc_id":"HGNC:3816","gene_name":"forkhead box J1","omim_gene":["602291"],"alias_name":null,"gene_symbol":"FOXJ1","hgnc_symbol":"FOXJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74132414-74137380","ensembl_id":"ENSG00000129654"}},"GRch38":{"90":{"location":"17:76136333-76141299","ensembl_id":"ENSG00000129654"}}},"hgnc_date_symbol_changed":"1996-11-13"},"entity_type":"gene","entity_name":"FOXJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31630787"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Ciliary dyskinesia, primary, 43 - MIM# 618699"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TBC","TBC1","KIAA1108"],"biotype":"protein_coding","hgnc_id":"HGNC:11578","gene_name":"TBC1 domain family member 1","omim_gene":["609850"],"alias_name":null,"gene_symbol":"TBC1D1","hgnc_symbol":"TBC1D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:37892708-38140796","ensembl_id":"ENSG00000065882"}},"GRch38":{"90":{"location":"4:37891087-38139175","ensembl_id":"ENSG00000065882"}}},"hgnc_date_symbol_changed":"2000-03-06"},"entity_type":"gene","entity_name":"TBC1D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26572137"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CAKUT"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DDBB","UV-DDB2","FLJ34321","XPE"],"biotype":"protein_coding","hgnc_id":"HGNC:2718","gene_name":"damage specific DNA binding protein 2","omim_gene":["600811"],"alias_name":["xeroderma pigmentosum group E protein","UV-damaged DNA-binding protein 2","DDB p48 subunit"],"gene_symbol":"DDB2","hgnc_symbol":"DDB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47236493-47260767","ensembl_id":"ENSG00000134574"}},"GRch38":{"90":{"location":"11:47214465-47239240","ensembl_id":"ENSG00000134574"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"DDB2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33544716","32457468","32239545","32228487"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Xeroderma pigmentosum, group E, DDB-negative subtype MIM#278740"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. 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additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHR-4","FHR4"],"biotype":"protein_coding","hgnc_id":"HGNC:16979","gene_name":"complement factor H related 4","omim_gene":["605337"],"alias_name":null,"gene_symbol":"CFHR4","hgnc_symbol":"CFHR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196819371-196888102","ensembl_id":"ENSG00000134365"}},"GRch38":{"90":{"location":"1:196850241-196918972","ensembl_id":"ENSG00000134365"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hemolytic-uremic syndrome, atypical, susceptibility to"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHR15"],"biotype":"protein_coding","hgnc_id":"HGNC:14674","gene_name":"protocadherin related 15","omim_gene":["605514"],"alias_name":["cadherin-related family member 15"],"gene_symbol":"PCDH15","hgnc_symbol":"PCDH15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:55562531-57387702","ensembl_id":"ENSG00000150275"}},"GRch38":{"90":{"location":"10:53802771-55627942","ensembl_id":"ENSG00000150275"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"PCDH15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPI3"],"biotype":"protein_coding","hgnc_id":"HGNC:8957","gene_name":"phosphatidylinositol glycan anchor biosynthesis class A","omim_gene":["311770"],"alias_name":["paroxysmal nocturnal hemoglobinuria","phosphatidylinositol N-acetylglucosaminyltransferase"],"gene_symbol":"PIGA","hgnc_symbol":"PIGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15337573-15353676","ensembl_id":"ENSG00000165195"}},"GRch38":{"90":{"location":"X:15319451-15335580","ensembl_id":"ENSG00000165195"}}},"hgnc_date_symbol_changed":"1993-10-28"},"entity_type":"gene","entity_name":"PIGA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32694024","24706016","26545172","24357517","33333793","22305531"],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["E3BP","proX","PDX1","OPDX","DLDBP"],"biotype":"protein_coding","hgnc_id":"HGNC:21350","gene_name":"pyruvate dehydrogenase complex component X","omim_gene":["608769"],"alias_name":null,"gene_symbol":"PDHX","hgnc_symbol":"PDHX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34937376-35042138","ensembl_id":"ENSG00000110435"}},"GRch38":{"90":{"location":"11:34915829-35020591","ensembl_id":"ENSG00000110435"}}},"hgnc_date_symbol_changed":"2003-06-24"},"entity_type":"gene","entity_name":"PDHX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20002125","33092611"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Lactic acidaemia due to PDX1 deficiency, MIM# 245349"],"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":null},{"gene_data":{"alias":["DKFZp434D0513","KIAA1864","PPP1R31","CILD5"],"biotype":"protein_coding","hgnc_id":"HGNC:19368","gene_name":"HYDIN, axonemal central pair apparatus protein","omim_gene":["610812"],"alias_name":["protein phosphatase 1, regulatory subunit 31"],"gene_symbol":"HYDIN","hgnc_symbol":"HYDIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70841281-71264625","ensembl_id":"ENSG00000157423"}},"GRch38":{"90":{"location":"16:70807378-71230722","ensembl_id":"ENSG00000157423"}}},"hgnc_date_symbol_changed":"2003-06-27"},"entity_type":"gene","entity_name":"HYDIN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Primary ciliary dyskinesia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASV","c-src"],"biotype":"protein_coding","hgnc_id":"HGNC:11283","gene_name":"SRC proto-oncogene, non-receptor tyrosine kinase","omim_gene":["190090"],"alias_name":null,"gene_symbol":"SRC","hgnc_symbol":"SRC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35973088-36034453","ensembl_id":"ENSG00000197122"}},"GRch38":{"90":{"location":"20:37344685-37406050","ensembl_id":"ENSG00000197122"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SRC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31204551","26936507"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Thrombocytopaenia 6, MIM# 616937"],"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":["FLJ10979","HCCS1"],"biotype":"protein_coding","hgnc_id":"HGNC:25608","gene_name":"VPS53, GARP complex subunit","omim_gene":["615850"],"alias_name":null,"gene_symbol":"VPS53","hgnc_symbol":"VPS53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:411908-624957","ensembl_id":"ENSG00000141252"}},"GRch38":{"90":{"location":"17:508668-721717","ensembl_id":"ENSG00000141252"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"VPS53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12920088","24577744","30100179"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 2E, MIM#615851"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CNC1"],"biotype":"protein_coding","hgnc_id":"HGNC:9388","gene_name":"protein kinase cAMP-dependent type I regulatory subunit alpha","omim_gene":["188830"],"alias_name":["Carney complex type 1"],"gene_symbol":"PRKAR1A","hgnc_symbol":"PRKAR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66507921-66547460","ensembl_id":"ENSG00000108946"}},"GRch38":{"90":{"location":"17:68511780-68551319","ensembl_id":"ENSG00000108946"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PRKAR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Thyroid cancer, MONDO:0002108","Thyroid gland follicular carcinoma, MONDO:0005034","Carney complex type 1, MONDO:0008057","Carney complex, type 1, MIM#160980"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4362,"hash_id":null,"name":"Thyroid Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with thyroid cancer. \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 thyroid cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:36:20.733311+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC104706"],"biotype":"protein_coding","hgnc_id":"HGNC:28078","gene_name":"coiled-coil domain containing 189","omim_gene":null,"alias_name":null,"gene_symbol":"CCDC189","hgnc_symbol":"CCDC189","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30768744-30774031","ensembl_id":"ENSG00000196118"}},"GRch38":{"90":{"location":"16:30757423-30762710","ensembl_id":"ENSG00000196118"}}},"hgnc_date_symbol_changed":"2015-10-06"},"entity_type":"gene","entity_name":"CCDC189","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40759592"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, CCDC189-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRF3","TBP2"],"biotype":"protein_coding","hgnc_id":"HGNC:19841","gene_name":"TATA-box binding protein like 2","omim_gene":["608964"],"alias_name":null,"gene_symbol":"TBPL2","hgnc_symbol":"TBPL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55880259-55923444","ensembl_id":"ENSG00000182521"}},"GRch38":{"90":{"location":"14:55413541-55456726","ensembl_id":"ENSG00000182521"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"TBPL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37804378","33966269","33893736","33541821"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited oocyte maturation defect, MONDO:0014769, TBPL2-related"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hnRNP-R"],"biotype":"protein_coding","hgnc_id":"HGNC:5047","gene_name":"heterogeneous nuclear ribonucleoprotein R","omim_gene":["607201"],"alias_name":null,"gene_symbol":"HNRNPR","hgnc_symbol":"HNRNPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:23630264-23670829","ensembl_id":"ENSG00000125944"}},"GRch38":{"90":{"location":"1:23303771-23344336","ensembl_id":"ENSG00000125944"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41618099"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Spermatogenic failure (MONDO:0004983), HNRNPR-related"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["E46L","FLJ37990"],"biotype":"protein_coding","hgnc_id":"HGNC:10549","gene_name":"ataxin 10","omim_gene":["611150"],"alias_name":null,"gene_symbol":"ATXN10","hgnc_symbol":"ATXN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46067678-46241187","ensembl_id":"ENSG00000130638"}},"GRch38":{"90":{"location":"22:45671798-45845307","ensembl_id":"ENSG00000130638"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"str","entity_name":"ATXN10_SCA10_ATTCT","confidence_level":"3","penetrance":null,"publications":["20301354"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 10 MIM#603516"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTCT","chromosome":"22","grch37_coordinates":[46191235,46191304],"grch38_coordinates":[45795355,45795424],"normal_repeats":32,"pathogenic_repeats":800,"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}