{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=274","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=272","results":[{"gene_data":{"alias":["KIAA1066","JSAP1","JIP3","syd"],"biotype":"protein_coding","hgnc_id":"HGNC:6884","gene_name":"mitogen-activated protein kinase 8 interacting protein 3","omim_gene":["605431"],"alias_name":["homolog of Drosophila Sunday driver 2"],"gene_symbol":"MAPK8IP3","hgnc_symbol":"MAPK8IP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1756184-1820318","ensembl_id":"ENSG00000138834"}},"GRch38":{"90":{"location":"16:1706183-1770317","ensembl_id":"ENSG00000138834"}}},"hgnc_date_symbol_changed":"2000-08-22"},"entity_type":"gene","entity_name":"MAPK8IP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30612693"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FIB1","KIAA1773","FLJ11790","CDHR6"],"biotype":"protein_coding","hgnc_id":"HGNC:13681","gene_name":"dachsous cadherin-related 1","omim_gene":["603057"],"alias_name":["cadherin-related family member 6"],"gene_symbol":"DCHS1","hgnc_symbol":"DCHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6642556-6677085","ensembl_id":"ENSG00000166341"}},"GRch38":{"90":{"location":"11:6621323-6655854","ensembl_id":"ENSG00000166341"}}},"hgnc_date_symbol_changed":"2004-09-03"},"entity_type":"gene","entity_name":"DCHS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24056717","29046692"],"evidence":["Expert Review Green","Australian Genomics Health Alliance Brain Malformation Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Van Maldergem syndrome 1, MIM# 601390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":19,"hash_id":null,"name":"Periventricular Grey Matter Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS and a consensus panel used by RMH.","status":"public","version":"1.2","version_created":"2023-01-04T20:17:09.749124+11:00","relevant_disorders":["Grey matter heterotopia","HP:0002282"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32928894","29543227"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Arthrogryposis multiplex congenita","Dravet syndrome, MIM# 607208"],"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 Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["tuberin","LAM","PPP1R160"],"biotype":"protein_coding","hgnc_id":"HGNC:12363","gene_name":"TSC complex subunit 2","omim_gene":["191092"],"alias_name":["protein phosphatase 1, regulatory subunit 160"],"gene_symbol":"TSC2","hgnc_symbol":"TSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:2097466-2138716","ensembl_id":"ENSG00000103197"}},"GRch38":{"90":{"location":"16:2047465-2088720","ensembl_id":"ENSG00000103197"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"TSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ35630","FLJ41559"],"biotype":"protein_coding","hgnc_id":"HGNC:26648","gene_name":"Bardet-Biedl syndrome 12","omim_gene":["610683"],"alias_name":null,"gene_symbol":"BBS12","hgnc_symbol":"BBS12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123653857-123666098","ensembl_id":"ENSG00000181004"}},"GRch38":{"90":{"location":"4:122732702-122744943","ensembl_id":"ENSG00000181004"}}},"hgnc_date_symbol_changed":"2006-12-13"},"entity_type":"gene","entity_name":"BBS12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19797195","29633607","26082521"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 12, MIM# 615989"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":53,"hash_id":null,"name":"Bardet Biedl syndrome","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nBardet Biedl syndrome is a multisystem ciliopathy characterised by a combination of obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities.\r\n\r\nMany ciliopathies present with overlapping features, please refer to the Ciliopathy panel if broader spectrum of conditions are being considered.","status":"public","version":"1.14","version_created":"2025-05-21T20:50:29.131780+10:00","relevant_disorders":[],"stats":{"number_of_genes":27,"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":["iPLA2","PNPLA9","PARK14","iPLA2beta","NBIA2"],"biotype":"protein_coding","hgnc_id":"HGNC:9039","gene_name":"phospholipase A2 group VI","omim_gene":["603604"],"alias_name":["neurodegeneration with brain iron accumulation 2"],"gene_symbol":"PLA2G6","hgnc_symbol":"PLA2G6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38507502-38601697","ensembl_id":"ENSG00000184381"}},"GRch38":{"90":{"location":"22:38111495-38205690","ensembl_id":"ENSG00000184381"}}},"hgnc_date_symbol_changed":"1998-09-07"},"entity_type":"gene","entity_name":"PLA2G6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33528536","34540776","34788679","38693247"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration with brain iron accumulation 2B MIM#610217"],"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":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bloom syndrome, MIM# 210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12010","gene_name":"tropomyosin 1","omim_gene":["191010"],"alias_name":null,"gene_symbol":"TPM1","hgnc_symbol":"TPM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:63334831-63364114","ensembl_id":"ENSG00000140416"}},"GRch38":{"90":{"location":"15:63042632-63071915","ensembl_id":"ENSG00000140416"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"TPM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11273725","23147248","20117437","15249230","20215591","21483645","31983221","28600229"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1Y, MIM# 611878"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1494","gene_name":"ALX homeobox 1","omim_gene":["601527"],"alias_name":null,"gene_symbol":"ALX1","hgnc_symbol":"ALX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:85673885-85695562","ensembl_id":"ENSG00000180318"}},"GRch38":{"90":{"location":"12:85280107-85301784","ensembl_id":"ENSG00000180318"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"ALX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27324866","20451171","23059813"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Frontonasal dysplasia 3, MIM#613456"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":104,"hash_id":null,"name":"Frontonasal dysplasia","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 frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.","status":"public","version":"1.3","version_created":"2025-10-26T17:18:38.360530+11:00","relevant_disorders":["Midline defect of the nose","HP:0004122; Midline facial cleft","HP:0100629; Cranium bifidum occultum","HP:0004423"],"stats":{"number_of_genes":9,"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":["SLIM1","KYO-T","bA535K18.1","FHL1B","XMPMA","FLH1A","MGC111107"],"biotype":"protein_coding","hgnc_id":"HGNC:3702","gene_name":"four and a half LIM domains 1","omim_gene":["300163"],"alias_name":["Four-and-a-half LIM domains 1","LIM protein SLIMMER"],"gene_symbol":"FHL1","hgnc_symbol":"FHL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135229559-135293518","ensembl_id":"ENSG00000022267"}},"GRch38":{"90":{"location":"X:136146702-136211359","ensembl_id":"ENSG00000022267"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"FHL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Emery-Dreifuss muscular dystrophy 6, X-linked, MIM#\t300696"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0993","ALFY","ZFYVE25"],"biotype":"protein_coding","hgnc_id":"HGNC:20751","gene_name":"WD repeat and FYVE domain containing 3","omim_gene":["617485"],"alias_name":null,"gene_symbol":"WDFY3","hgnc_symbol":"WDFY3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:85590704-85887544","ensembl_id":"ENSG00000163625"}},"GRch38":{"90":{"location":"4:84669610-84966391","ensembl_id":"ENSG00000163625"}}},"hgnc_date_symbol_changed":"2003-03-28"},"entity_type":"gene","entity_name":"WDFY3","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31327001"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with macrocephaly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EMSP","EMSP1","PSTS","KLK-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:6365","gene_name":"kallikrein related peptidase 4","omim_gene":["603767"],"alias_name":["enamel matrix serine proteinase 1"],"gene_symbol":"KLK4","hgnc_symbol":"KLK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51409608-51413994","ensembl_id":"ENSG00000167749"}},"GRch38":{"90":{"location":"19:50906352-50910738","ensembl_id":"ENSG00000167749"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"KLK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15235027","23355523","28611678","27066511"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amelogenesis imperfecta, type IIA1, MIM# 204700"],"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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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":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"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":[]},{"gene_data":{"alias":["PHOG","GCFX","SS","SHOXY"],"biotype":"protein_coding","hgnc_id":"HGNC:10853","gene_name":"short stature homeobox","omim_gene":["312865","400020"],"alias_name":null,"gene_symbol":"SHOX","hgnc_symbol":"SHOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:585079-620146","ensembl_id":"ENSG00000185960"}},"GRch38":{"90":{"location":"X:624344-659411","ensembl_id":"ENSG00000185960"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"SHOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leri-Weill dyschondrosteosis, MIM# 127300","Langer mesomelic dysplasia, MIM#249700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p21cdc42Hs","ACK","ACK1"],"biotype":"protein_coding","hgnc_id":"HGNC:19297","gene_name":"tyrosine kinase non receptor 2","omim_gene":["606994"],"alias_name":["activated Cdc42-associated kinase 1"],"gene_symbol":"TNK2","hgnc_symbol":"TNK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:195590235-195638816","ensembl_id":"ENSG00000061938"}},"GRch38":{"90":{"location":"3:195863364-195911945","ensembl_id":"ENSG00000061938"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"TNK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27977884","23686771"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["severe infantile onset epilepsy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EIEE2","CFAP247"],"biotype":"protein_coding","hgnc_id":"HGNC:11411","gene_name":"cyclin dependent kinase like 5","omim_gene":["300203"],"alias_name":null,"gene_symbol":"CDKL5","hgnc_symbol":"CDKL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18443703-18671749","ensembl_id":"ENSG00000008086"}},"GRch38":{"90":{"location":"X:18425583-18653629","ensembl_id":"ENSG00000008086"}}},"hgnc_date_symbol_changed":"2002-11-29"},"entity_type":"gene","entity_name":"CDKL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19793311"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 2, MIM# 300672"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDIA12"],"biotype":"protein_coding","hgnc_id":"HGNC:30739","gene_name":"thioredoxin related transmembrane protein 2","omim_gene":["616715"],"alias_name":["protein disulfide isomerase family A, member 12"],"gene_symbol":"TMX2","hgnc_symbol":"TMX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57480072-57508445","ensembl_id":"ENSG00000213593"}},"GRch38":{"90":{"location":"11:57712600-57740973","ensembl_id":"ENSG00000213593"}}},"hgnc_date_symbol_changed":"2009-02-23"},"entity_type":"gene","entity_name":"TMX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31735293","31586943"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Microcephaly","ID","brain malformations","seizures"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLN10"],"biotype":"protein_coding","hgnc_id":"HGNC:2529","gene_name":"cathepsin D","omim_gene":["116840"],"alias_name":["ceroid-lipofuscinosis, neuronal 10"],"gene_symbol":"CTSD","hgnc_symbol":"CTSD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1773982-1785222","ensembl_id":"ENSG00000117984"}},"GRch38":{"90":{"location":"11:1752752-1764573","ensembl_id":"ENSG00000117984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CTSD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16685649","16670177","25298308","33681191","29284168","27072142"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 10, MIM# 610127","MONDO:0012414"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:830","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide","omim_gene":["102910"],"alias_name":null,"gene_symbol":"ATP5B","hgnc_symbol":"ATP5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57031959-57039798","ensembl_id":"ENSG00000110955"}},"GRch38":{"90":{"location":"12:56638175-56646068","ensembl_id":"ENSG00000110955"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ATP5B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36860166","36239646","40276935"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Dystonia 38, susceptibility to, MIM# 621502","Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:19261","gene_name":"mitochondrial tRNA translation optimization 1","omim_gene":["614667"],"alias_name":null,"gene_symbol":"MTO1","hgnc_symbol":"MTO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74171301-74218959","ensembl_id":"ENSG00000135297"}},"GRch38":{"90":{"location":"6:73461578-73509236","ensembl_id":"ENSG00000135297"}}},"hgnc_date_symbol_changed":"2003-05-21"},"entity_type":"gene","entity_name":"MTO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26061759","29331171","23929671"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 10, OMIM #614702"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MIP"],"biotype":"protein_coding","hgnc_id":"HGNC:7104","gene_name":"mitochondrial intermediate peptidase","omim_gene":["602241"],"alias_name":null,"gene_symbol":"MIPEP","hgnc_symbol":"MIPEP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:24304328-24463558","ensembl_id":"ENSG00000027001"}},"GRch38":{"90":{"location":"13:23730189-23889419","ensembl_id":"ENSG00000027001"}}},"hgnc_date_symbol_changed":"1996-10-30"},"entity_type":"gene","entity_name":"MIPEP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27799064"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Combined oxidative phosphorylation deficiency 31, MIM#\t617228"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5438","gene_name":"interferon gamma","omim_gene":["147570"],"alias_name":null,"gene_symbol":"IFNG","hgnc_symbol":"IFNG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:68548548-68553527","ensembl_id":"ENSG00000111537"}},"GRch38":{"90":{"location":"12:68154768-68159747","ensembl_id":"ENSG00000111537"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IFNG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32163377","38363432"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["inherited susceptibility to mycobacterial diseases MONDO:0019146"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9832","gene_name":"recombination activating 2","omim_gene":["179616"],"alias_name":null,"gene_symbol":"RAG2","hgnc_symbol":"RAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:36597124-36619829","ensembl_id":"ENSG00000175097"}},"GRch38":{"90":{"location":"11:36575574-36598279","ensembl_id":"ENSG00000175097"}}},"hgnc_date_symbol_changed":"1990-08-15"},"entity_type":"gene","entity_name":"RAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26996199"],"evidence":["Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Immunology Flagship","Expert Review Green","Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Recombinase activating gene 2 deficiency MONDO:0000573"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":235,"hash_id":null,"name":"Severe Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:\r\n- SCID with absent T present B cells\r\n- SCID with absent T absent B cells\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.30","version_created":"2026-03-02T10:27:29.970169+11:00","relevant_disorders":["Severe combined immunodeficiency","HP:0004430"],"stats":{"number_of_genes":28,"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":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD137","4-1BB"],"biotype":"protein_coding","hgnc_id":"HGNC:11924","gene_name":"TNF receptor superfamily member 9","omim_gene":["602250"],"alias_name":null,"gene_symbol":"TNFRSF9","hgnc_symbol":"TNFRSF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:7979907-8000926","ensembl_id":"ENSG00000049249"}},"GRch38":{"90":{"location":"1:7915894-7943165","ensembl_id":"ENSG00000049249"}}},"hgnc_date_symbol_changed":"1996-06-12"},"entity_type":"gene","entity_name":"TNFRSF9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37144041"],"evidence":["Expert Review 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["23664120","25497877","24482476"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290","Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM#618291"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15461","gene_name":"mesencephalic astrocyte derived neurotrophic factor","omim_gene":["601916"],"alias_name":null,"gene_symbol":"MANF","hgnc_symbol":"MANF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:51422478-51426828","ensembl_id":"ENSG00000145050"}},"GRch38":{"90":{"location":"3:51385047-51389397","ensembl_id":"ENSG00000145050"}}},"hgnc_date_symbol_changed":"2009-06-04"},"entity_type":"gene","entity_name":"MANF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26077850","33500254","34815294"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MODY9"],"biotype":"protein_coding","hgnc_id":"HGNC:8618","gene_name":"paired box 4","omim_gene":["167413"],"alias_name":null,"gene_symbol":"PAX4","hgnc_symbol":"PAX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:127250346-127255982","ensembl_id":"ENSG00000106331"}},"GRch38":{"90":{"location":"7:127610292-127618114","ensembl_id":"ENSG00000106331"}}},"hgnc_date_symbol_changed":"1993-04-07"},"entity_type":"gene","entity_name":"PAX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17426099","14561778","25951767","21263211","40614820"],"evidence":["Expert Review Red","Radboud University Medical Center, Nijmegen","Royal Melbourne Hospital"],"phenotypes":["Maturity-onset diabetes of the young, type IX MIM#612225","Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["refuted"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF698","bA145L22","bA145L22.2"],"biotype":"protein_coding","hgnc_id":"HGNC:18791","gene_name":"ZFP57 zinc finger protein","omim_gene":["612192"],"alias_name":null,"gene_symbol":"ZFP57","hgnc_symbol":"ZFP57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:29640169-29648887","ensembl_id":"ENSG00000204644"}},"GRch38":{"90":{"location":"6:29672392-29681110","ensembl_id":"ENSG00000204644"}}},"hgnc_date_symbol_changed":"2005-07-20"},"entity_type":"gene","entity_name":"ZFP57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18622393","27075368","23150280","30315371","35218690","28334746"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Diabetes mellitus, transient neonatal, 1, MIM#601410"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12118"],"biotype":"protein_coding","hgnc_id":"HGNC:25695","gene_name":"cysteinyl-tRNA synthetase 2, mitochondrial","omim_gene":["612800"],"alias_name":["cysteine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"CARS2","hgnc_symbol":"CARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:111293759-111365950","ensembl_id":"ENSG00000134905"}},"GRch38":{"90":{"location":"13:110641412-110713603","ensembl_id":"ENSG00000134905"}}},"hgnc_date_symbol_changed":"2007-01-24"},"entity_type":"gene","entity_name":"CARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DRCTNNB1A","HCC","HYCC1","hyccin"],"biotype":"protein_coding","hgnc_id":"HGNC:24587","gene_name":"family with sequence similarity 126 member A","omim_gene":["610531"],"alias_name":["down regulated by Ctnnb1, a"],"gene_symbol":"FAM126A","hgnc_symbol":"FAM126A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:22980878-23053749","ensembl_id":"ENSG00000122591"}},"GRch38":{"90":{"location":"7:22889371-23014130","ensembl_id":"ENSG00000122591"}}},"hgnc_date_symbol_changed":"2006-09-06"},"entity_type":"gene","entity_name":"FAM126A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 5, 610532 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ORF20","TTDN1"],"biotype":"protein_coding","hgnc_id":"HGNC:16002","gene_name":"M-phase specific PLK1 interacting protein","omim_gene":["609188"],"alias_name":null,"gene_symbol":"MPLKIP","hgnc_symbol":"MPLKIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40165622-40174258","ensembl_id":"ENSG00000168303"}},"GRch38":{"90":{"location":"7:40126023-40134659","ensembl_id":"ENSG00000168303"}}},"hgnc_date_symbol_changed":"2012-03-01"},"entity_type":"gene","entity_name":"MPLKIP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive, 234050 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14600"],"biotype":"protein_coding","hgnc_id":"HGNC:25903","gene_name":"ATPase family, AAA domain containing 1","omim_gene":["614452"],"alias_name":["thorase"],"gene_symbol":"ATAD1","hgnc_symbol":"ATAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89511269-89601100","ensembl_id":"ENSG00000138138"}},"GRch38":{"90":{"location":"10:87751512-87841343","ensembl_id":"ENSG00000138138"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperekplexia 4, 618011 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PEK","PERK"],"biotype":"protein_coding","hgnc_id":"HGNC:3255","gene_name":"eukaryotic translation initiation factor 2 alpha kinase 3","omim_gene":["604032"],"alias_name":null,"gene_symbol":"EIF2AK3","hgnc_symbol":"EIF2AK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:88856259-88927094","ensembl_id":"ENSG00000172071"}},"GRch38":{"90":{"location":"2:88556741-88627576","ensembl_id":"ENSG00000172071"}}},"hgnc_date_symbol_changed":"1999-06-14"},"entity_type":"gene","entity_name":"EIF2AK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Wolcott-Rallison syndrome, 226980 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAD6","ND6"],"biotype":"protein_coding","hgnc_id":"HGNC:7462","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6","omim_gene":["516006"],"alias_name":["complex I ND6 subunit","NADH-ubiquinone oxidoreductase chain 6"],"gene_symbol":"MT-ND6","hgnc_symbol":"MT-ND6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:14149-14673","ensembl_id":"ENSG00000198695"}},"GRch38":{"90":{"location":"MT:14149-14673","ensembl_id":"ENSG00000198695"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["5576045","20019223","21196529","10894222","14684687","17535832","19103152","21749722","23813926","25356405","14595656","19062322","11133798","30741831","21364701","2018041"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND6-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:27424","gene_name":"RNA binding motif protein 20","omim_gene":["613171"],"alias_name":null,"gene_symbol":"RBM20","hgnc_symbol":"RBM20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112404155-112599227","ensembl_id":"ENSG00000203867"}},"GRch38":{"90":{"location":"10:110644397-110839469","ensembl_id":"ENSG00000203867"}}},"hgnc_date_symbol_changed":"2004-04-07"},"entity_type":"gene","entity_name":"RBM20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, dilated, 1DD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Osteopetrosis, autosomal recessive 4, MIM# 611490"],"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":["cSVP","CD156B"],"biotype":"protein_coding","hgnc_id":"HGNC:195","gene_name":"ADAM metallopeptidase domain 17","omim_gene":["603639"],"alias_name":null,"gene_symbol":"ADAM17","hgnc_symbol":"ADAM17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:9628615-9695921","ensembl_id":"ENSG00000151694"}},"GRch38":{"90":{"location":"2:9488486-9555792","ensembl_id":"ENSG00000151694"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"ADAM17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Neonatal inflammatory skin and bowel disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0569","SIP-1","SIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:14881","gene_name":"zinc finger E-box binding homeobox 2","omim_gene":["605802"],"alias_name":["SMAD interacting protein 1"],"gene_symbol":"ZEB2","hgnc_symbol":"ZEB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:145141648-145282147","ensembl_id":"ENSG00000169554"}},"GRch38":{"90":{"location":"2:144364364-144524583","ensembl_id":"ENSG00000169554"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"ZEB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mowat-Wilson syndrome"],"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":["XAP101","dyskerin","NAP57","NOLA4","Cbf5"],"biotype":"protein_coding","hgnc_id":"HGNC:2890","gene_name":"dyskerin pseudouridine synthase 1","omim_gene":["300126"],"alias_name":["H/ACA ribonucleoprotein complex subunit 4"],"gene_symbol":"DKC1","hgnc_symbol":"DKC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153991031-154005964","ensembl_id":"ENSG00000130826"}},"GRch38":{"90":{"location":"X:154762742-154777689","ensembl_id":"ENSG00000130826"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DKC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31269755","26951492","29081935","25940403"],"evidence":["Expert Review Red","Yorkshire and North East GLH","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita, X-linked 305000","Hoyeraal-Hreidarsson Syndrome"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGAT"],"biotype":"protein_coding","hgnc_id":"HGNC:4175","gene_name":"glycine amidinotransferase","omim_gene":["602360"],"alias_name":["L-arginine:glycine amidinotransferase"],"gene_symbol":"GATM","hgnc_symbol":"GATM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45653322-45694525","ensembl_id":"ENSG00000171766"}},"GRch38":{"90":{"location":"15:45361124-45402327","ensembl_id":"ENSG00000171766"}}},"hgnc_date_symbol_changed":"1998-02-20"},"entity_type":"gene","entity_name":"GATM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11555793","27604308"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Cerebral creatine deficiency syndrome 3 MIM#612718"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA2004","FLJ20073"],"biotype":"protein_coding","hgnc_id":"HGNC:1348","gene_name":"sterile alpha motif domain containing 9","omim_gene":["610456"],"alias_name":null,"gene_symbol":"SAMD9","hgnc_symbol":"SAMD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92728829-92747336","ensembl_id":"ENSG00000205413"}},"GRch38":{"90":{"location":"7:93099513-93118023","ensembl_id":"ENSG00000205413"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"SAMD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other - please provide details in the comments","publications":["27182967"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["MIRAGE syndrome, 617053"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Fbw4","dactylin"],"biotype":"protein_coding","hgnc_id":"HGNC:10847","gene_name":"F-box and WD repeat domain containing 4","omim_gene":["608071"],"alias_name":null,"gene_symbol":"FBXW4","hgnc_symbol":"FBXW4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103370423-103455052","ensembl_id":"ENSG00000107829"}},"GRch38":{"90":{"location":"10:101610664-101695295","ensembl_id":"ENSG00000107829"}}},"hgnc_date_symbol_changed":"2005-03-12"},"entity_type":"gene","entity_name":"FBXW4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12913067","16235095","27600068"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Split-hand/foot malformation 3 syndrome 246560"],"mode_of_inheritance":"Unknown","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":["SERA","PGDH","PDG"],"biotype":"protein_coding","hgnc_id":"HGNC:8923","gene_name":"phosphoglycerate dehydrogenase","omim_gene":["606879"],"alias_name":null,"gene_symbol":"PHGDH","hgnc_symbol":"PHGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:120202421-120286838","ensembl_id":"ENSG00000092621"}},"GRch38":{"90":{"location":"1:119648411-119744226","ensembl_id":"ENSG00000092621"}}},"hgnc_date_symbol_changed":"1999-11-22"},"entity_type":"gene","entity_name":"PHGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11895570","11494295"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Neu-Laxova syndrome 1, MIM# 256520"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p51","SHFM4","EEC3","p63","p73L","OFC8","KET","p73H","NBP","p53CP"],"biotype":"protein_coding","hgnc_id":"HGNC:15979","gene_name":"tumor protein p63","omim_gene":["603273"],"alias_name":null,"gene_symbol":"TP63","hgnc_symbol":"TP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189349205-189615068","ensembl_id":"ENSG00000073282"}},"GRch38":{"90":{"location":"3:189631416-189897279","ensembl_id":"ENSG00000073282"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"TP63","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP586M0122","FLJ21915","RPO1-4","RPA1"],"biotype":"protein_coding","hgnc_id":"HGNC:17264","gene_name":"RNA polymerase I subunit A","omim_gene":["616404"],"alias_name":null,"gene_symbol":"POLR1A","hgnc_symbol":"POLR1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:86247339-86333278","ensembl_id":"ENSG00000068654"}},"GRch38":{"90":{"location":"2:86020216-86106155","ensembl_id":"ENSG00000068654"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25913037","28051070"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Acrofacial dysostosis, Cincinnati type, OMIM:616462","Acrofacial dysostosis Cincinnati type, MONDO:0014651"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1S"],"biotype":"protein_coding","hgnc_id":"HGNC:7577","gene_name":"myosin heavy chain 7","omim_gene":["160760"],"alias_name":null,"gene_symbol":"MYH7","hgnc_symbol":"MYH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23881947-23904927","ensembl_id":"ENSG00000092054"}},"GRch38":{"90":{"location":"14:23412738-23435718","ensembl_id":"ENSG00000092054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["22859017","26337809","25547560","21127202","27519903","30623132","30924982"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ebstein anomaly","Laing distal myopathy, MIM# 160500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-97","FLJ10917","SDS","SWDS"],"biotype":"protein_coding","hgnc_id":"HGNC:19440","gene_name":"SBDS, ribosome maturation factor","omim_gene":["607444"],"alias_name":null,"gene_symbol":"SBDS","hgnc_symbol":"SBDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:66452664-66460588","ensembl_id":"ENSG00000126524"}},"GRch38":{"90":{"location":"7:66987677-66995601","ensembl_id":"ENSG00000126524"}}},"hgnc_date_symbol_changed":"2003-07-02"},"entity_type":"gene","entity_name":"SBDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Shwachman-Diamond syndrome, MIM# 260400"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15594","gene_name":"debranching RNA lariats 1","omim_gene":["607024"],"alias_name":null,"gene_symbol":"DBR1","hgnc_symbol":"DBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:137879854-137893791","ensembl_id":"ENSG00000138231"}},"GRch38":{"90":{"location":"3:138161012-138174949","ensembl_id":"ENSG00000138231"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"DBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37656279","29474921","38325642"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Xerosis and growth failure with immune and pulmonary dysfunction syndrome MIM#620510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20157","AOA","AOA1","EAOH","EOAHA"],"biotype":"protein_coding","hgnc_id":"HGNC:15984","gene_name":"aprataxin","omim_gene":["606350"],"alias_name":null,"gene_symbol":"APTX","hgnc_symbol":"APTX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32972604-33025166","ensembl_id":"ENSG00000137074"}},"GRch38":{"90":{"location":"9:32972606-33025168","ensembl_id":"ENSG00000137074"}}},"hgnc_date_symbol_changed":"2001-07-16"},"entity_type":"gene","entity_name":"APTX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30986824","26256098","11586299"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHETK"],"biotype":"protein_coding","hgnc_id":"HGNC:1938","gene_name":"choline kinase beta","omim_gene":["612395"],"alias_name":null,"gene_symbol":"CHKB","hgnc_symbol":"CHKB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51017378-51039884","ensembl_id":"ENSG00000100288"}},"GRch38":{"90":{"location":"22:50578949-50601455","ensembl_id":"ENSG00000100288"}}},"hgnc_date_symbol_changed":"2004-04-19"},"entity_type":"gene","entity_name":"CHKB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21665002","23692895","24997086"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy, congenital, megaconial type, MIM#602541"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EIF2B","EIF-2Bbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:3258","gene_name":"eukaryotic translation initiation factor 2B subunit beta","omim_gene":["606454"],"alias_name":null,"gene_symbol":"EIF2B2","hgnc_symbol":"EIF2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:75469614-75476292","ensembl_id":"ENSG00000119718"}},"GRch38":{"90":{"location":"14:75002911-75012366","ensembl_id":"ENSG00000119718"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14566705","21484434","28041799","11704758"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16499","gene_name":"RAB39B, member RAS oncogene family","omim_gene":["300774"],"alias_name":null,"gene_symbol":"RAB39B","hgnc_symbol":"RAB39B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154487526-154493874","ensembl_id":"ENSG00000155961"}},"GRch38":{"90":{"location":"X:155258241-155264589","ensembl_id":"ENSG00000155961"}}},"hgnc_date_symbol_changed":"2001-09-26"},"entity_type":"gene","entity_name":"RAB39B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25434005","34761259","29152164","20159109"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 72, MIM #300271"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:28983","gene_name":"transmembrane protein 94","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM94","hgnc_symbol":"TMEM94","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73437240-73496171","ensembl_id":"ENSG00000177728"}},"GRch38":{"90":{"location":"17:75441159-75500090","ensembl_id":"ENSG00000177728"}}},"hgnc_date_symbol_changed":"2015-10-07"},"entity_type":"gene","entity_name":"TMEM94","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30526868","32825426"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Intellectual developmental disorder with cardiac defects and dysmorphic facies, MIM#618316"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6381","gene_name":"kynurenine 3-monooxygenase","omim_gene":["603538"],"alias_name":["kynurenine 3-hydroxylase"],"gene_symbol":"KMO","hgnc_symbol":"KMO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:241695434-241758944","ensembl_id":"ENSG00000117009"}},"GRch38":{"90":{"location":"1:241532134-241595642","ensembl_id":"ENSG00000117009"}}},"hgnc_date_symbol_changed":"1998-12-18"},"entity_type":"gene","entity_name":"KMO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28187857, 24189070"],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["pellagra MONDO:0019975"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32894695"],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","vascular"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4135","gene_name":"galactose-1-phosphate uridylyltransferase","omim_gene":["606999"],"alias_name":null,"gene_symbol":"GALT","hgnc_symbol":"GALT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34638130-34651032","ensembl_id":"ENSG00000213930"}},"GRch38":{"90":{"location":"9:34638133-34651035","ensembl_id":"ENSG00000213930"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GALT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Galactosaemia, MIM#230400"],"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":["AHD","AWS","HJ1","CD339"],"biotype":"protein_coding","hgnc_id":"HGNC:6188","gene_name":"jagged 1","omim_gene":["601920"],"alias_name":null,"gene_symbol":"JAG1","hgnc_symbol":"JAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:10618332-10654694","ensembl_id":"ENSG00000101384"}},"GRch38":{"90":{"location":"20:10637684-10674107","ensembl_id":"ENSG00000101384"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"JAG1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Alagille syndrome, MIM# 1 118450"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FLJ90254"],"biotype":"protein_coding","hgnc_id":"HGNC:26894","gene_name":"taperin","omim_gene":["613354"],"alias_name":null,"gene_symbol":"TPRN","hgnc_symbol":"TPRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140086069-140098645","ensembl_id":"ENSG00000176058"}},"GRch38":{"90":{"location":"9:137191617-137204193","ensembl_id":"ENSG00000176058"}}},"hgnc_date_symbol_changed":"2010-03-24"},"entity_type":"gene","entity_name":"TPRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Deafness, autosomal recessive 79, MIM# 613307"],"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":["FHOS2","KIAA1695","FLJ22297","FLJ22717"],"biotype":"protein_coding","hgnc_id":"HGNC:26178","gene_name":"formin homology 2 domain containing 3","omim_gene":["609691"],"alias_name":null,"gene_symbol":"FHOD3","hgnc_symbol":"FHOD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:33877677-34360018","ensembl_id":"ENSG00000134775"}},"GRch38":{"90":{"location":"18:36297714-36780055","ensembl_id":"ENSG00000134775"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"FHOD3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30442288","33586461","32335906","31742804"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 28, MIM# 619402"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11712"],"biotype":"protein_coding","hgnc_id":"HGNC:25671","gene_name":"ribonuclease H2 subunit B","omim_gene":["610326"],"alias_name":null,"gene_symbol":"RNASEH2B","hgnc_symbol":"RNASEH2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:51483814-51544592","ensembl_id":"ENSG00000136104"}},"GRch38":{"90":{"location":"13:50909678-50973745","ensembl_id":"ENSG00000136104"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16845400","33307271","29239743"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 2 MIM#610181"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TBCCD2","NME10","NM23-H10"],"biotype":"protein_coding","hgnc_id":"HGNC:10274","gene_name":"RP2, ARL3 GTPase activating protein","omim_gene":["300757"],"alias_name":null,"gene_symbol":"RP2","hgnc_symbol":"RP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:46696375-46741793","ensembl_id":"ENSG00000102218"}},"GRch38":{"90":{"location":"X:46836940-46882358","ensembl_id":"ENSG00000102218"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"RP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10053026","11462235","22131869","8225316","26143542","16969763","14564670"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 2, MIM #312600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 5, MIM# 612952"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["D-bifunctional protein deficiency, MIM#261515"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2M"],"biotype":"protein_coding","hgnc_id":"HGNC:3622","gene_name":"fukutin","omim_gene":["607440"],"alias_name":null,"gene_symbol":"FKTN","hgnc_symbol":"FKTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108320411-108403399","ensembl_id":"ENSG00000106692"}},"GRch38":{"90":{"location":"9:105558130-105641118","ensembl_id":"ENSG00000106692"}}},"hgnc_date_symbol_changed":"2007-11-21"},"entity_type":"gene","entity_name":"FKTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9690476","19017726","20301385","28680109","17036286"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy-dystroglycanopathy MONDO:0018276"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9251","gene_name":"cathepsin A","omim_gene":["613111"],"alias_name":["carboxypeptidase C","lysosomal protective protein","carboxypeptidase-L","carboxypeptidase Y-like kininase","deamidase","lysosomal carboxypeptidase A","urinary kininase"],"gene_symbol":"CTSA","hgnc_symbol":"CTSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44518783-44527459","ensembl_id":"ENSG00000064601"}},"GRch38":{"90":{"location":"20:45890144-45898820","ensembl_id":"ENSG00000064601"}}},"hgnc_date_symbol_changed":"2006-12-05"},"entity_type":"gene","entity_name":"CTSA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8968752","18391110","7759227","6812049","28603679","8838767","19466716","16674934","23915561","26036949","24769197","28555253","15110321","27243974"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Galactosialidosis MIM#256540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Breast cancer, MONDO:0007254","PALB2-related cancer predisposition, MONDO:0700272","Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442","Pancreatic cancer, susceptibility to, 3, MIM#613348"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4375,"hash_id":null,"name":"Breast Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with breast cancer. \r\n\r\nFurther information on the testing criteria for breast cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast 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":"1.19","version_created":"2026-01-12T09:35:45.451588+11:00","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"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":["DKFZP564L0862","MGC4954","FLJ20636"],"biotype":"protein_coding","hgnc_id":"HGNC:17184","gene_name":"ankyrin repeat and SOCS box containing 9","omim_gene":["300890"],"alias_name":null,"gene_symbol":"ASB9","hgnc_symbol":"ASB9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15253410-15288589","ensembl_id":"ENSG00000102048"}},"GRch38":{"90":{"location":"X:15235288-15270467","ensembl_id":"ENSG00000102048"}}},"hgnc_date_symbol_changed":"2001-12-05"},"entity_type":"gene","entity_name":"ASB9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41730923"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, ASB9-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PK2","BV8","MIT1","KAL4"],"biotype":"protein_coding","hgnc_id":"HGNC:18455","gene_name":"prokineticin 2","omim_gene":["607002"],"alias_name":["protein Bv8 homolog"],"gene_symbol":"PROK2","hgnc_symbol":"PROK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71820807-71834357","ensembl_id":"ENSG00000163421"}},"GRch38":{"90":{"location":"3:71771656-71785206","ensembl_id":"ENSG00000163421"}}},"hgnc_date_symbol_changed":"2002-07-22"},"entity_type":"gene","entity_name":"PROK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23341491","18559922","17959774","17054399","31200363","33819414"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypogonadotropic hypogonadism 4 with or without anosmia, MIM# 610628"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AAT1","AAT1alpha","SPATA26","CaM-IP2"],"biotype":"protein_coding","hgnc_id":"HGNC:24010","gene_name":"MYCBP associated and testis expressed 1","omim_gene":["609910"],"alias_name":["AMY-1-associating protein expressed in testis 1","MYCBP-binding protein","spermatogenesis associated 26"],"gene_symbol":"MAATS1","hgnc_symbol":"MAATS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:119421869-119485949","ensembl_id":"ENSG00000183833"}},"GRch38":{"90":{"location":"3:119703022-119767102","ensembl_id":"ENSG00000183833"}}},"hgnc_date_symbol_changed":"2012-09-26"},"entity_type":"gene","entity_name":"MAATS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32161152"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"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":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]}]}