{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=62","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=60","results":[{"gene_data":{"alias":["GBA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4177","gene_name":"glucosylceramidase beta","omim_gene":["606463"],"alias_name":null,"gene_symbol":"GBA","hgnc_symbol":"GBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155204243-155214490","ensembl_id":"ENSG00000177628"}},"GRch38":{"90":{"location":"1:155234452-155244699","ensembl_id":"ENSG00000177628"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GBA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23588557","32439597","31010158"],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["{Lewy body dementia, susceptibility to} (MIM# 127750)"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. 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Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.\r\n\r\nAnterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2211","gene_name":"collagen type VI alpha 1 chain","omim_gene":["120220"],"alias_name":null,"gene_symbol":"COL6A1","hgnc_symbol":"COL6A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47401651-47424964","ensembl_id":"ENSG00000142156"}},"GRch38":{"90":{"location":"21:45981737-46005050","ensembl_id":"ENSG00000142156"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301676","25535305","15955946","23738969","29277723","24443028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bethlem myopathy MIM#158810","Ullrich congenital muscular dystrophy MIM#254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HLP","DDX13","SKI2W","170A","SKIV2L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10898","gene_name":"Ski2 like RNA helicase","omim_gene":["600478"],"alias_name":null,"gene_symbol":"SKIV2L","hgnc_symbol":"SKIV2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31926857-31937532","ensembl_id":"ENSG00000204351"}},"GRch38":{"90":{"location":"6:31959080-31969755","ensembl_id":"ENSG00000204351"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"SKIV2L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22444670","33114497","30397475","29527791","29484573"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Trichohepatoenteric syndrome 2, MIM# 614602"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"","publications":["21483645","30874888","21846512","30384889","25935763","24558114","27000522","31179125","24119082","27965028","33947203"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1S, MIM# 613426","MONDO:0013262"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RLF","MGC119818","MGC119819"],"biotype":"protein_coding","hgnc_id":"HGNC:6086","gene_name":"insulin like 3","omim_gene":["146738"],"alias_name":["prepro-INSL3"],"gene_symbol":"INSL3","hgnc_symbol":"INSL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17927321-17932383","ensembl_id":"ENSG00000248099"}},"GRch38":{"90":{"location":"19:17816512-17821574","ensembl_id":"ENSG00000248099"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"INSL3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12601553","12970298","11095425"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Cryptorchidism, MIM# 219050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UDG2","FLJ22422","UNG2"],"biotype":"protein_coding","hgnc_id":"HGNC:18576","gene_name":"cyclin O","omim_gene":["607752"],"alias_name":null,"gene_symbol":"CCNO","hgnc_symbol":"CCNO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:54526980-54529508","ensembl_id":"ENSG00000152669"}},"GRch38":{"90":{"location":"5:55231152-55233680","ensembl_id":"ENSG00000152669"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"CCNO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24747639","24824133","31765523"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 29, MIM# 615872"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280","ABPL"],"biotype":"protein_coding","hgnc_id":"HGNC:3756","gene_name":"filamin C","omim_gene":["102565"],"alias_name":["actin binding protein 280","gamma filamin"],"gene_symbol":"FLNC","hgnc_symbol":"FLNC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128470431-128499328","ensembl_id":"ENSG00000128591"}},"GRch38":{"90":{"location":"7:128830377-128859274","ensembl_id":"ENSG00000128591"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"FLNC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31924696","28356264","30411535"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Cardiomyopathy, familial hypertrophic, 26"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4298","gene_name":"galactosidase beta 1","omim_gene":["611458"],"alias_name":null,"gene_symbol":"GLB1","hgnc_symbol":"GLB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33038100-33138722","ensembl_id":"ENSG00000170266"}},"GRch38":{"90":{"location":"3:32996608-33097230","ensembl_id":"ENSG00000170266"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23412","VNUT"],"biotype":"protein_coding","hgnc_id":"HGNC:16192","gene_name":"solute carrier family 17 member 9","omim_gene":["612107"],"alias_name":null,"gene_symbol":"SLC17A9","hgnc_symbol":"SLC17A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:61584052-61599949","ensembl_id":"ENSG00000101194"}},"GRch38":{"90":{"location":"20:62952647-62969585","ensembl_id":"ENSG00000101194"}}},"hgnc_date_symbol_changed":"2009-01-22"},"entity_type":"gene","entity_name":"SLC17A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25180256","25596766"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["disseminated superficial actinic porokeratosis MONDO:0019212"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BAM22","AP105A"],"biotype":"protein_coding","hgnc_id":"HGNC:554","gene_name":"adaptor related protein complex 1 beta 1 subunit","omim_gene":["600157"],"alias_name":null,"gene_symbol":"AP1B1","hgnc_symbol":"AP1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:29723669-29819168","ensembl_id":"ENSG00000100280"}},"GRch38":{"90":{"location":"22:29327680-29423179","ensembl_id":"ENSG00000100280"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31630788","31630791"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","enteropathy","deafness","ichthyosis","keratoderma"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp761H079","JBTS8"],"biotype":"protein_coding","hgnc_id":"HGNC:25419","gene_name":"ADP ribosylation factor like GTPase 13B","omim_gene":["608922"],"alias_name":null,"gene_symbol":"ARL13B","hgnc_symbol":"ARL13B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:93698983-93774512","ensembl_id":"ENSG00000169379"}},"GRch38":{"90":{"location":"3:93980139-94055668","ensembl_id":"ENSG00000169379"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"ARL13B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18674751","25138100","26092869","27894351","29255182","17488627"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 8, MIM# 612291"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"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":["NE-Dlg","SAP102","SAP-102","NEDLG","KIAA1232","MRX90","PPP1R82"],"biotype":"protein_coding","hgnc_id":"HGNC:2902","gene_name":"discs large MAGUK scaffold protein 3","omim_gene":["300189"],"alias_name":["neuroendocrine-dlg","protein phosphatase 1, regulatory subunit 82"],"gene_symbol":"DLG3","hgnc_symbol":"DLG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:69664711-69725337","ensembl_id":"ENSG00000082458"}},"GRch38":{"90":{"location":"X:70444861-70505490","ensembl_id":"ENSG00000082458"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"DLG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28777483","24721225"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, X-linked 90 MIM#300850"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RGPR","PGPR-p117","Sec16S"],"biotype":"protein_coding","hgnc_id":"HGNC:30301","gene_name":"SEC16 homolog B, endoplasmic reticulum export factor","omim_gene":["612855"],"alias_name":["regucalcin gene promotor region related protein"],"gene_symbol":"SEC16B","hgnc_symbol":"SEC16B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:177893091-177953438","ensembl_id":"ENSG00000120341"}},"GRch38":{"90":{"location":"1:177923956-177984303","ensembl_id":"ENSG00000120341"}}},"hgnc_date_symbol_changed":"2007-06-20"},"entity_type":"gene","entity_name":"SEC16B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28375157","28862642","30652979"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AST1"],"biotype":"protein_coding","hgnc_id":"HGNC:4432","gene_name":"glutamic-oxaloacetic transaminase 1","omim_gene":["138180"],"alias_name":["aspartate aminotransferase 1","aspartate transaminase 1","glutamate oxaloacetate transaminase 1"],"gene_symbol":"GOT1","hgnc_symbol":"GOT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101156627-101190381","ensembl_id":"ENSG00000120053"}},"GRch38":{"90":{"location":"10:99396870-99430624","ensembl_id":"ENSG00000120053"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GOT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Aspartate aminotransferase, serum level of, QTL1, MIM# 614419"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7173","gene_name":"matrix metallopeptidase 3","omim_gene":["185250"],"alias_name":null,"gene_symbol":"MMP3","hgnc_symbol":"MMP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102706532-102714534","ensembl_id":"ENSG00000149968"}},"GRch38":{"90":{"location":"11:102835801-102843803","ensembl_id":"ENSG00000149968"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MMP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12750310","10351963"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Coronary heart disease, susceptibility to, 6} 614466"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKCM","PKD","PKC-mu"],"biotype":"protein_coding","hgnc_id":"HGNC:9407","gene_name":"protein kinase D1","omim_gene":["605435"],"alias_name":null,"gene_symbol":"PRKD1","hgnc_symbol":"PRKD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:30045687-30661104","ensembl_id":"ENSG00000184304"}},"GRch38":{"90":{"location":"14:29576479-30191898","ensembl_id":"ENSG00000184304"}}},"hgnc_date_symbol_changed":"2004-10-30"},"entity_type":"gene","entity_name":"PRKD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27479907","32817298","25713110","33919081"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital heart defects and ectodermal dysplasia, 617364","Congenital heart disease, autosomal recessive"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HPE5"],"biotype":"protein_coding","hgnc_id":"HGNC:12873","gene_name":"Zic family member 2","omim_gene":["603073"],"alias_name":["Zinc finger protein of the cerebellum 2"],"gene_symbol":"ZIC2","hgnc_symbol":"ZIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100634026-100639018","ensembl_id":"ENSG00000043355"}},"GRch38":{"90":{"location":"13:99981772-99986773","ensembl_id":"ENSG00000043355"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"ZIC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9771712","11285244"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Holoprosencephaly 5, MIM# 609637","MONDO:0012322"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ45913"],"biotype":"protein_coding","hgnc_id":"HGNC:26973","gene_name":"chromosome 10 open reading frame 71","omim_gene":null,"alias_name":null,"gene_symbol":"C10orf71","hgnc_symbol":"C10orf71","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50507187-50535537","ensembl_id":"ENSG00000177354"}},"GRch38":{"90":{"location":"10:49299193-49327487","ensembl_id":"ENSG00000177354"}}},"hgnc_date_symbol_changed":"2004-02-05"},"entity_type":"gene","entity_name":"C10orf71","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38950288"],"evidence":["Expert Review Green","Other"],"phenotypes":["dilated cardiomyopathy MONDO:0005021"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Etr-3","NAPOR-2","BRUNOL3"],"biotype":"protein_coding","hgnc_id":"HGNC:2550","gene_name":"CUGBP Elav-like family member 2","omim_gene":["602538"],"alias_name":null,"gene_symbol":"CELF2","hgnc_symbol":"CELF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:11047259-11378674","ensembl_id":"ENSG00000048740"}},"GRch38":{"90":{"location":"10:10798397-11336675","ensembl_id":"ENSG00000048740"}}},"hgnc_date_symbol_changed":"2010-02-19"},"entity_type":"gene","entity_name":"CELF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33131106"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 97, MIM#619561"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp686E205","AF4p12","MOR2"],"biotype":"protein_coding","hgnc_id":"HGNC:29127","gene_name":"FRY like transcription coactivator","omim_gene":null,"alias_name":["mor2 cell polarity protein homolog (S. pombe)"],"gene_symbol":"FRYL","hgnc_symbol":"FRYL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:48499378-48782339","ensembl_id":"ENSG00000075539"}},"GRch38":{"90":{"location":"4:48497361-48780322","ensembl_id":"ENSG00000075539"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"FRYL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38479391"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pan-Chung-Bellen syndrome, MIM# 621049"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HANK","ANK","CPPDD"],"biotype":"protein_coding","hgnc_id":"HGNC:15492","gene_name":"ANKH inorganic pyrophosphate transport regulator","omim_gene":["605145"],"alias_name":null,"gene_symbol":"ANKH","hgnc_symbol":"ANKH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14704910-14871887","ensembl_id":"ENSG00000154122"}},"GRch38":{"90":{"location":"5:14704804-14871778","ensembl_id":"ENSG00000154122"}}},"hgnc_date_symbol_changed":"2001-04-05"},"entity_type":"gene","entity_name":"ANKH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301634","20358596"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["craniometaphyseal dysplasia MONDO:0015465"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RU2","KIAA1154","DCDC2A","NPHP19"],"biotype":"protein_coding","hgnc_id":"HGNC:18141","gene_name":"doublecortin domain containing 2","omim_gene":["605755"],"alias_name":null,"gene_symbol":"DCDC2","hgnc_symbol":"DCDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:24171984-24358280","ensembl_id":"ENSG00000146038"}},"GRch38":{"90":{"location":"6:24171756-24358052","ensembl_id":"ENSG00000146038"}}},"hgnc_date_symbol_changed":"2003-05-20"},"entity_type":"gene","entity_name":"DCDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25557784","31821705","27469900"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Nephronophthisis 19, MIM# 616217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KS","KNO1"],"biotype":"protein_coding","hgnc_id":"HGNC:2195","gene_name":"collagen type XVIII alpha 1 chain","omim_gene":["120328"],"alias_name":["endostatin"],"gene_symbol":"COL18A1","hgnc_symbol":"COL18A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46825052-46933634","ensembl_id":"ENSG00000182871"}},"GRch38":{"90":{"location":"21:45405137-45513720","ensembl_id":"ENSG00000182871"}}},"hgnc_date_symbol_changed":"1993-05-25"},"entity_type":"gene","entity_name":"COL18A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27259167","25456301"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Knobloch syndrome, type 1, MIM# 267750"],"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":["PR55-BETA","PR52B","B55beta"],"biotype":"protein_coding","hgnc_id":"HGNC:9305","gene_name":"protein phosphatase 2 regulatory subunit Bbeta","omim_gene":["604325"],"alias_name":["PP2A subunit B isoform beta"],"gene_symbol":"PPP2R2B","hgnc_symbol":"PPP2R2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:145967936-146464347","ensembl_id":"ENSG00000156475"}},"GRch38":{"90":{"location":"5:146581146-147084784","ensembl_id":"ENSG00000156475"}}},"hgnc_date_symbol_changed":"1993-01-25"},"entity_type":"gene","entity_name":"PPP2R2B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25356899","39565297"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1122","gene_name":"biotinidase","omim_gene":["609019"],"alias_name":null,"gene_symbol":"BTD","hgnc_symbol":"BTD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:15642848-15687329","ensembl_id":"ENSG00000169814"}},"GRch38":{"90":{"location":"3:15601341-15645822","ensembl_id":"ENSG00000169814"}}},"hgnc_date_symbol_changed":"1994-03-30"},"entity_type":"gene","entity_name":"BTD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10801053","12359137","7550325"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Biotinidase deficiency, MIM 253260"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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:4092","gene_name":"glutamate decarboxylase 1","omim_gene":["605363"],"alias_name":null,"gene_symbol":"GAD1","hgnc_symbol":"GAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:171669723-171717661","ensembl_id":"ENSG00000128683"}},"GRch38":{"90":{"location":"2:170813213-170861151","ensembl_id":"ENSG00000128683"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32282878"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 89, MIM# 619124"],"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":["FLJ10530","HPC2"],"biotype":"protein_coding","hgnc_id":"HGNC:14198","gene_name":"elaC ribonuclease Z 2","omim_gene":["605367"],"alias_name":["tRNase Z (long form)"],"gene_symbol":"ELAC2","hgnc_symbol":"ELAC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:12895708-12921504","ensembl_id":"ENSG00000006744"}},"GRch38":{"90":{"location":"17:12992391-13018187","ensembl_id":"ENSG00000006744"}}},"hgnc_date_symbol_changed":"2000-12-14"},"entity_type":"gene","entity_name":"ELAC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23849775","31045291"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 17, MIM#615440"],"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 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VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DP3","PDGB","PKGB","DPIII"],"biotype":"protein_coding","hgnc_id":"HGNC:6207","gene_name":"junction 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screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3542","gene_name":"coagulation factor V","omim_gene":["612309"],"alias_name":null,"gene_symbol":"F5","hgnc_symbol":"F5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169483404-169555826","ensembl_id":"ENSG00000198734"}},"GRch38":{"90":{"location":"1:169514166-169586588","ensembl_id":"ENSG00000198734"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Factor V deficiency, MIM# 227400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6122","gene_name":"interferon regulatory factor 7","omim_gene":["605047"],"alias_name":null,"gene_symbol":"IRF7","hgnc_symbol":"IRF7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:612553-615999","ensembl_id":"ENSG00000185507"}},"GRch38":{"90":{"location":"11:612553-615999","ensembl_id":"ENSG00000185507"}}},"hgnc_date_symbol_changed":"1996-11-13"},"entity_type":"gene","entity_name":"IRF7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25814066","15800576"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 39, MIM# 616345"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4076","gene_name":"gamma-aminobutyric acid type A receptor alpha2 subunit","omim_gene":["137140"],"alias_name":["GABA(A) receptor, alpha 2"],"gene_symbol":"GABRA2","hgnc_symbol":"GABRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:46250444-46477247","ensembl_id":"ENSG00000151834"}},"GRch38":{"90":{"location":"4:46248427-46475230","ensembl_id":"ENSG00000151834"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GABRA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29422393","29961870","31032849","31032848"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 78, 618557"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3341","gene_name":"empty spiracles homeobox 2","omim_gene":["600035"],"alias_name":null,"gene_symbol":"EMX2","hgnc_symbol":"EMX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:119301955-119309056","ensembl_id":"ENSG00000170370"}},"GRch38":{"90":{"location":"10:117542444-117549546","ensembl_id":"ENSG00000170370"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"EMX2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["8528262","9359037","9153481","9153481","18409201"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Schizencephaly, MIM# 269160"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ISA2"],"biotype":"protein_coding","hgnc_id":"HGNC:19857","gene_name":"iron-sulfur cluster assembly 2","omim_gene":["615317"],"alias_name":null,"gene_symbol":"ISCA2","hgnc_symbol":"ISCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74960423-74963809","ensembl_id":"ENSG00000165898"}},"GRch38":{"90":{"location":"14:74493720-74497106","ensembl_id":"ENSG00000165898"}}},"hgnc_date_symbol_changed":"2007-01-18"},"entity_type":"gene","entity_name":"ISCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25539947","29297947","29122497","29359243","31279336","31106229"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPHS5"],"biotype":"protein_coding","hgnc_id":"HGNC:6487","gene_name":"laminin subunit beta 2","omim_gene":["150325"],"alias_name":["laminin S"],"gene_symbol":"LAMB2","hgnc_symbol":"LAMB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49158547-49170551","ensembl_id":"ENSG00000172037"}},"GRch38":{"90":{"location":"3:49121114-49133118","ensembl_id":"ENSG00000172037"}}},"hgnc_date_symbol_changed":"1992-05-06"},"entity_type":"gene","entity_name":"LAMB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Pierson syndrome, MIM#609049"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8854","gene_name":"peroxisomal biogenesis factor 12","omim_gene":["601758"],"alias_name":null,"gene_symbol":"PEX12","hgnc_symbol":"PEX12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33901814-33905882","ensembl_id":"ENSG00000108733"}},"GRch38":{"90":{"location":"17:35574795-35578863","ensembl_id":"ENSG00000108733"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301621"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Peroxisome biogenesis disorder 3A (Zellweger) MIM#614859","Peroxisome biogenesis disorder 3B MIM#266510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APG4-D"],"biotype":"protein_coding","hgnc_id":"HGNC:20789","gene_name":"autophagy related 4D cysteine peptidase","omim_gene":["611340"],"alias_name":null,"gene_symbol":"ATG4D","hgnc_symbol":"ATG4D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10654571-10664094","ensembl_id":"ENSG00000130734"}},"GRch38":{"90":{"location":"19:10543895-10553418","ensembl_id":"ENSG00000130734"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"ATG4D","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 36765070"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ATG4D-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19026396","20507343","35002959","34877714","34732557","34590781"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Woodhouse-Sakati syndrome, MIM# 241080"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HsORC4","Orc4p"],"biotype":"protein_coding","hgnc_id":"HGNC:8490","gene_name":"origin recognition complex subunit 4","omim_gene":["603056"],"alias_name":null,"gene_symbol":"ORC4","hgnc_symbol":"ORC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:148687968-148779147","ensembl_id":"ENSG00000115947"}},"GRch38":{"90":{"location":"2:147930397-148021604","ensembl_id":"ENSG00000115947"}}},"hgnc_date_symbol_changed":"2010-10-12"},"entity_type":"gene","entity_name":"ORC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Meier-Gorlin syndrome 2\t613800","Meier-Gorlin syndrome 2 613800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15911822"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["pantothenate kinase-associated neurodegeneration MONDO:0009319","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp313L0718"],"biotype":"protein_coding","hgnc_id":"HGNC:4620","gene_name":"gelsolin","omim_gene":["137350"],"alias_name":["amyloidosis, Finnish type"],"gene_symbol":"GSN","hgnc_symbol":"GSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:123970072-124095121","ensembl_id":"ENSG00000148180"}},"GRch38":{"90":{"location":"9:121207794-121332843","ensembl_id":"ENSG00000148180"}}},"hgnc_date_symbol_changed":"1988-07-19"},"entity_type":"gene","entity_name":"GSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8684801","228009","3513049"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Amyloidosis, Finnish type MIM#105120"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnA"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7475","gene_name":"mitochondrially encoded tRNA alanine","omim_gene":["590000"],"alias_name":null,"gene_symbol":"MT-TA","hgnc_symbol":"MT-TA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5587-5655","ensembl_id":"ENSG00000210127"}},"GRch38":{"90":{"location":"MT:5587-5655","ensembl_id":"ENSG00000210127"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11715067","17825557","14569122","27014581","20813205","25873012","16476954"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TA-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HI","PHHI","SUR1","MRP8","ABC36","HHF1","TNDM2"],"biotype":"protein_coding","hgnc_id":"HGNC:59","gene_name":"ATP binding cassette subfamily C member 8","omim_gene":["600509"],"alias_name":["sulfonylurea receptor (hyperinsulinemia)"],"gene_symbol":"ABCC8","hgnc_symbol":"ABCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17414432-17498449","ensembl_id":"ENSG00000006071"}},"GRch38":{"90":{"location":"11:17392885-17476845","ensembl_id":"ENSG00000006071"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"ABCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30354297, 35811711, 32934261, 31727138"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pulmonary arterial hypertension, MONDO:0015924, ABCC8-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.57","version_created":"2026-04-07T13:46:27.864798+10:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5 OMIM #256731"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SGC","A3b"],"biotype":"protein_coding","hgnc_id":"HGNC:10806","gene_name":"sarcoglycan beta","omim_gene":["600900"],"alias_name":null,"gene_symbol":"SGCB","hgnc_symbol":"SGCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:52886872-52904648","ensembl_id":"ENSG00000163069"}},"GRch38":{"90":{"location":"4:52020706-52038482","ensembl_id":"ENSG00000163069"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SGCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2E, 604286 (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":["HKE5"],"biotype":"protein_coding","hgnc_id":"HGNC:2187","gene_name":"collagen type XI alpha 2 chain","omim_gene":["120290"],"alias_name":null,"gene_symbol":"COL11A2","hgnc_symbol":"COL11A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33130458-33160276","ensembl_id":"ENSG00000204248"}},"GRch38":{"90":{"location":"6:33162681-33192499","ensembl_id":"ENSG00000204248"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"COL11A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fibrochondrogenesis 2, 614524 (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":["FVIII","DXS1253E","HEMA"],"biotype":"protein_coding","hgnc_id":"HGNC:3546","gene_name":"coagulation factor VIII","omim_gene":["300841"],"alias_name":["Factor VIIIF8B","hemophilia A"],"gene_symbol":"F8","hgnc_symbol":"F8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154064063-154255215","ensembl_id":"ENSG00000185010"}},"GRch38":{"90":{"location":"X:154835788-155026940","ensembl_id":"ENSG00000185010"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hemophilia A, 306700 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GSD1a"],"biotype":"protein_coding","hgnc_id":"HGNC:4056","gene_name":"glucose-6-phosphatase catalytic subunit","omim_gene":["613742"],"alias_name":["glycogen storage disease type I, von Gierke disease"],"gene_symbol":"G6PC","hgnc_symbol":"G6PC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41052814-41065386","ensembl_id":"ENSG00000131482"}},"GRch38":{"90":{"location":"17:42900797-42913369","ensembl_id":"ENSG00000131482"}}},"hgnc_date_symbol_changed":"1993-11-05"},"entity_type":"gene","entity_name":"G6PC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease Ia, 232200 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:31923","gene_name":"LCA5, lebercilin","omim_gene":["611408"],"alias_name":null,"gene_symbol":"LCA5","hgnc_symbol":"LCA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80194708-80247175","ensembl_id":"ENSG00000135338"}},"GRch38":{"90":{"location":"6:79484991-79537458","ensembl_id":"ENSG00000135338"}}},"hgnc_date_symbol_changed":"2005-02-23"},"entity_type":"gene","entity_name":"LCA5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leber congenital amaurosis 5, 604537 (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":["DKFZP434C245"],"biotype":"protein_coding","hgnc_id":"HGNC:24488","gene_name":"POC1 centriolar protein A","omim_gene":["614783"],"alias_name":null,"gene_symbol":"POC1A","hgnc_symbol":"POC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52109269-52188706","ensembl_id":"ENSG00000164087"}},"GRch38":{"90":{"location":"3:52075253-52154690","ensembl_id":"ENSG00000164087"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (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":["LR3","BMND1","HBM","OPS","OPTA1","VBCH2","EVR4"],"biotype":"protein_coding","hgnc_id":"HGNC:6697","gene_name":"LDL receptor related protein 5","omim_gene":["603506"],"alias_name":null,"gene_symbol":"LRP5","hgnc_symbol":"LRP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:68080077-68216743","ensembl_id":"ENSG00000162337"}},"GRch38":{"90":{"location":"11:68312609-68449275","ensembl_id":"ENSG00000162337"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"LRP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25920554"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Polycystic liver disease 4 with or without kidney cysts (617875)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3274,"hash_id":null,"name":"Polycystic liver disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by GHQ and is a consensus panel used by VCGS.","status":"public","version":"1.8","version_created":"2023-01-04T20:28:54.017980+11:00","relevant_disorders":["Polycystic liver disease","HP:0006557"],"stats":{"number_of_genes":13,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P450SCC"],"biotype":"protein_coding","hgnc_id":"HGNC:2590","gene_name":"cytochrome P450 family 11 subfamily A member 1","omim_gene":["118485"],"alias_name":["cholesterol monooxygenase (side-chain-cleaving)"],"gene_symbol":"CYP11A1","hgnc_symbol":"CYP11A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74630100-74660081","ensembl_id":"ENSG00000140459"}},"GRch38":{"90":{"location":"15:74337759-74367740","ensembl_id":"ENSG00000140459"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"CYP11A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete"],"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":["ND1","NAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:7455","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","omim_gene":["516000"],"alias_name":["complex I ND1 subunit","NADH-ubiquinone oxidoreductase chain 1"],"gene_symbol":"MT-ND1","hgnc_symbol":"MT-ND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}},"GRch38":{"90":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Leber hereditary optic neuropathy"],"mode_of_inheritance":"MITOCHONDRIAL","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":["CD110","TPOR"],"biotype":"protein_coding","hgnc_id":"HGNC:7217","gene_name":"MPL proto-oncogene, thrombopoietin receptor","omim_gene":["159530"],"alias_name":null,"gene_symbol":"MPL","hgnc_symbol":"MPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43803478-43818443","ensembl_id":"ENSG00000117400"}},"GRch38":{"90":{"location":"1:43337849-43352772","ensembl_id":"ENSG00000117400"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"MPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Amegakaryocytic thrombocytopaenia, congenital"],"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":["MGC33196","KIAA1336","IFT121","IFTA1"],"biotype":"protein_coding","hgnc_id":"HGNC:29250","gene_name":"WD repeat domain 35","omim_gene":["613602"],"alias_name":null,"gene_symbol":"WDR35","hgnc_symbol":"WDR35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:20110021-20189892","ensembl_id":"ENSG00000118965"}},"GRch38":{"90":{"location":"2:19910260-19990131","ensembl_id":"ENSG00000118965"}}},"hgnc_date_symbol_changed":"2004-03-02"},"entity_type":"gene","entity_name":"WDR35","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY","SRTD7"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPMSY","SpS","MRSR"],"biotype":"protein_coding","hgnc_id":"HGNC:11123","gene_name":"spermine synthase","omim_gene":["300105"],"alias_name":null,"gene_symbol":"SMS","hgnc_symbol":"SMS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:21958691-22025798","ensembl_id":"ENSG00000102172"}},"GRch38":{"90":{"location":"X:21940573-21994835","ensembl_id":"ENSG00000102172"}}},"hgnc_date_symbol_changed":"1997-11-07"},"entity_type":"gene","entity_name":"SMS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30237987","34177437","32838743","23805436"],"evidence":["Expert Review Green"],"phenotypes":["Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583","Syndromic X-linked intellectual disability Snyder type, MONDO:0010664"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["POLG1","POLGA"],"biotype":"protein_coding","hgnc_id":"HGNC:9179","gene_name":"DNA polymerase gamma, catalytic subunit","omim_gene":["174763"],"alias_name":null,"gene_symbol":"POLG","hgnc_symbol":"POLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89859534-89878092","ensembl_id":"ENSG00000140521"}},"GRch38":{"90":{"location":"15:89305198-89334861","ensembl_id":"ENSG00000140521"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20220442"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM#\t203700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4670","gene_name":"GTP binding protein 2","omim_gene":["607434"],"alias_name":null,"gene_symbol":"GTPBP2","hgnc_symbol":"GTPBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43573053-43596899","ensembl_id":"ENSG00000172432"}},"GRch38":{"90":{"location":"6:43605316-43629162","ensembl_id":"ENSG00000172432"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"GTPBP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26675814","29449720"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Jaberi-Elahi syndrome, MIM# 617988"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3438,"hash_id":null,"name":"Neurodegeneration with brain iron accumulation","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that are associated with neurodegeneration with brain iron accumulation (NBIA) disorders. Depending on the clinical features present, consider applying additional panels such as the Dystonia Superpanel or Mitochondrial Disorders, which contain overlapping differential diagnoses.","status":"public","version":"1.3","version_created":"2025-11-25T11:21:32.539811+11:00","relevant_disorders":["Iron accumulation in brain","HP:0012675"],"stats":{"number_of_genes":24,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bHLHe76"],"biotype":"protein_coding","hgnc_id":"HGNC:348","gene_name":"aryl hydrocarbon receptor","omim_gene":["600253"],"alias_name":null,"gene_symbol":"AHR","hgnc_symbol":"AHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:17338246-17385776","ensembl_id":"ENSG00000106546"}},"GRch38":{"90":{"location":"7:17298622-17346152","ensembl_id":"ENSG00000106546"}}},"hgnc_date_symbol_changed":"1993-05-18"},"entity_type":"gene","entity_name":"AHR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28851966","31009037","23301081"],"evidence":["Expert Review Amber","Genomics England PanelApp","NHS Genomic Medicine Service","Literature"],"phenotypes":["Foveal hypoplasia 3, MIM#\t620958"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20128"],"biotype":"protein_coding","hgnc_id":"HGNC:14347","gene_name":"BCAS3, microtubule associated cell migration factor","omim_gene":["607470"],"alias_name":["Rudhira"],"gene_symbol":"BCAS3","hgnc_symbol":"BCAS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:58754814-59470199","ensembl_id":"ENSG00000141376"}},"GRch38":{"90":{"location":"17:60677453-61392838","ensembl_id":"ENSG00000141376"}}},"hgnc_date_symbol_changed":"2001-01-09"},"entity_type":"gene","entity_name":"BCAS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34022130"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["Hengel-Maroofian-Schols syndrome, MIM# 619641"],"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":[]},{"gene_data":{"alias":["TLDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:15822","gene_name":"oxidation resistance 1","omim_gene":["605609"],"alias_name":["TBC/LysM-associated domain containing 3"],"gene_symbol":"OXR1","hgnc_symbol":"OXR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:107282473-107764922","ensembl_id":"ENSG00000164830"}},"GRch38":{"90":{"location":"8:106359476-106752694","ensembl_id":"ENSG00000164830"}}},"hgnc_date_symbol_changed":"2001-06-14"},"entity_type":"gene","entity_name":"OXR1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31785787"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay - MIM#213000"],"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":["EIF2gamma","EIF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3267","gene_name":"eukaryotic translation initiation factor 2 subunit gamma","omim_gene":["300161"],"alias_name":["eukaryotic translation initiation factor 2G"],"gene_symbol":"EIF2S3","hgnc_symbol":"EIF2S3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:24072833-24096088","ensembl_id":"ENSG00000130741"}},"GRch38":{"90":{"location":"X:24054716-24077971","ensembl_id":"ENSG00000130741"}}},"hgnc_date_symbol_changed":"1994-09-06"},"entity_type":"gene","entity_name":"EIF2S3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23063529","27333055","28055140","32799315"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["MEHMO syndrome, OMIM:300148","MEHMO syndrome, MONDO:0010258"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hWNT5A"],"biotype":"protein_coding","hgnc_id":"HGNC:12784","gene_name":"Wnt family member 5A","omim_gene":["164975"],"alias_name":["WNT-5A protein"],"gene_symbol":"WNT5A","hgnc_symbol":"WNT5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:55499743-55523973","ensembl_id":"ENSG00000114251"}},"GRch38":{"90":{"location":"3:55465715-55490539","ensembl_id":"ENSG00000114251"}}},"hgnc_date_symbol_changed":"1993-07-06"},"entity_type":"gene","entity_name":"WNT5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17256787"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Robinow syndrome, autosomal dominant 1","OMIM# 180700"],"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":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24741716"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075","Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075"],"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":["CDMP1","BMP14"],"biotype":"protein_coding","hgnc_id":"HGNC:4220","gene_name":"growth differentiation factor 5","omim_gene":["601146"],"alias_name":["cartilage-derived morphogenetic protein-1"],"gene_symbol":"GDF5","hgnc_symbol":"GDF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34021145-34042568","ensembl_id":"ENSG00000125965"}},"GRch38":{"90":{"location":"20:35433347-35454746","ensembl_id":"ENSG00000125965"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"GDF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33333243"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Grebe type chondrodysplasia (MIM#200700)","Du Pan syndrome (MIM#228900)"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["AC","PHP32","FLJ21558","ACDase"],"biotype":"protein_coding","hgnc_id":"HGNC:735","gene_name":"N-acylsphingosine amidohydrolase 1","omim_gene":["613468"],"alias_name":["acylsphingosine deacylase","acid ceramidase"],"gene_symbol":"ASAH1","hgnc_symbol":"ASAH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:17913934-17942494","ensembl_id":"ENSG00000104763"}},"GRch38":{"90":{"location":"8:18055992-18084998","ensembl_id":"ENSG00000104763"}}},"hgnc_date_symbol_changed":"2002-09-13"},"entity_type":"gene","entity_name":"ASAH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11241842"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Farber lipogranulomatosis, MIM# 228000"],"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":["CX43","ODD","ODOD","SDTY3"],"biotype":"protein_coding","hgnc_id":"HGNC:4274","gene_name":"gap junction protein alpha 1","omim_gene":["121014"],"alias_name":["oculodentodigital dysplasia (syndactyly type III)","connexin 43"],"gene_symbol":"GJA1","hgnc_symbol":"GJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121756838-121770873","ensembl_id":"ENSG00000152661"}},"GRch38":{"90":{"location":"6:121435692-121449727","ensembl_id":"ENSG00000152661"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"GJA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23951358","29902798","34035645"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Craniometaphyseal dysplasia, autosomal recessive MIM#218400","Oculodentodigital dysplasia, autosomal recessive MIM#257850"],"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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27012807","16722536"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mevalonic aciduria, MIM#610377","Hyper-IgD syndrome, MIM#260920"],"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":["MGC3279","CL-K1"],"biotype":"protein_coding","hgnc_id":"HGNC:17213","gene_name":"collectin subfamily member 11","omim_gene":["612502"],"alias_name":["Collectin K1"],"gene_symbol":"COLEC11","hgnc_symbol":"COLEC11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3642426-3692048","ensembl_id":"ENSG00000118004"}},"GRch38":{"90":{"location":"2:3594832-3644644","ensembl_id":"ENSG00000118004"}}},"hgnc_date_symbol_changed":"2001-11-20"},"entity_type":"gene","entity_name":"COLEC11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21258343","26789649","28301481"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["3MC syndrome 2, MIM# 265050","MONDO:0009927"],"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:11600","gene_name":"T-box 22","omim_gene":["300307"],"alias_name":null,"gene_symbol":"TBX22","hgnc_symbol":"TBX22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:79270255-79287268","ensembl_id":"ENSG00000122145"}},"GRch38":{"90":{"location":"X:80014756-80031769","ensembl_id":"ENSG00000122145"}}},"hgnc_date_symbol_changed":"2000-05-05"},"entity_type":"gene","entity_name":"TBX22","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["36901693","22784330","21375406"],"evidence":["Expert Review Red","Expert Review"],"phenotypes":["Cleft palate with ankyloglossia, MIM #303400"],"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":["12R-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:430","gene_name":"arachidonate 12-lipoxygenase, 12R type","omim_gene":["603741"],"alias_name":null,"gene_symbol":"ALOX12B","hgnc_symbol":"ALOX12B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7975954-7991021","ensembl_id":"ENSG00000179477"}},"GRch38":{"90":{"location":"17:8072636-8087703","ensembl_id":"ENSG00000179477"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"ALOX12B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 2, MIM# 242100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AYP1","AGS3"],"biotype":"protein_coding","hgnc_id":"HGNC:24116","gene_name":"ribonuclease H2 subunit C","omim_gene":["610330"],"alias_name":["Aicardi-Goutieres syndrome 3"],"gene_symbol":"RNASEH2C","hgnc_symbol":"RNASEH2C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65482367-65488418","ensembl_id":"ENSG00000172922"}},"GRch38":{"90":{"location":"11:65714896-65720947","ensembl_id":"ENSG00000172922"}}},"hgnc_date_symbol_changed":"2006-08-17"},"entity_type":"gene","entity_name":"RNASEH2C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32877590"],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Aicardi-Goutieres syndrome 3, MIM# 610329"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review","neurological"],"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":["CT108"],"biotype":"protein_coding","hgnc_id":"HGNC:16378","gene_name":"otoancorin","omim_gene":["607038"],"alias_name":["cancer/testis antigen 108"],"gene_symbol":"OTOA","hgnc_symbol":"OTOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:21689835-21772050","ensembl_id":"ENSG00000155719"}},"GRch38":{"90":{"location":"16:21678514-21760729","ensembl_id":"ENSG00000155719"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"OTOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 22, MIM#607039"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","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":["KIAA0389"],"biotype":"protein_coding","hgnc_id":"HGNC:7605","gene_name":"myosin VI","omim_gene":["600970"],"alias_name":null,"gene_symbol":"MYO6","hgnc_symbol":"MYO6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:76458909-76629254","ensembl_id":"ENSG00000196586"}},"GRch38":{"90":{"location":"6:75749192-75919537","ensembl_id":"ENSG00000196586"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 37, MIM# 607821"],"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":["MPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:5391","gene_name":"iduronidase, alpha-L-","omim_gene":["252800"],"alias_name":null,"gene_symbol":"IDUA","hgnc_symbol":"IDUA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:980785-998316","ensembl_id":"ENSG00000127415"}},"GRch38":{"90":{"location":"4:986997-1004506","ensembl_id":"ENSG00000127415"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDUA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Mucopolysaccharidosis type 1, MONDO:0001586"],"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":["WASP","WASPA"],"biotype":"protein_coding","hgnc_id":"HGNC:12731","gene_name":"Wiskott-Aldrich syndrome","omim_gene":["300392"],"alias_name":["eczema-thrombocytopenia"],"gene_symbol":"WAS","hgnc_symbol":"WAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48534985-48549818","ensembl_id":"ENSG00000015285"}},"GRch38":{"90":{"location":"X:48676596-48691427","ensembl_id":"ENSG00000015285"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"WAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Wiskott-Aldrich syndrome, MIM# 301000","Thrombocytopenia, X-linked, MIM# 313900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4624","gene_name":"glutathione synthetase","omim_gene":["601002"],"alias_name":null,"gene_symbol":"GSS","hgnc_symbol":"GSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:33516236-33543620","ensembl_id":"ENSG00000100983"}},"GRch38":{"90":{"location":"20:34928430-34955817","ensembl_id":"ENSG00000100983"}}},"hgnc_date_symbol_changed":"1991-05-01"},"entity_type":"gene","entity_name":"GSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glutathione synthetase deficiency MIM#266130"],"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:869","gene_name":"ATPase copper transporting alpha","omim_gene":["300011"],"alias_name":["copper pump 1","copper-transporting ATPase 1"],"gene_symbol":"ATP7A","hgnc_symbol":"ATP7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:77166194-77305892","ensembl_id":"ENSG00000165240"}},"GRch38":{"90":{"location":"X:77910656-78050395","ensembl_id":"ENSG00000165240"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ATP7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20170900","33137485","31969342","31558336","7842019","8981948"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Menkes disease(MIM#309400)","Occipital horn syndrome(MIM#304150)"],"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":["HCA661","E2F-like","CT30"],"biotype":"protein_coding","hgnc_id":"HGNC:24603","gene_name":"transcription factor Dp family member 3","omim_gene":["300772"],"alias_name":["E2F-like protein","cancer/testis antigen 30"],"gene_symbol":"TFDP3","hgnc_symbol":"TFDP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132350697-132352376","ensembl_id":"ENSG00000183434"}},"GRch38":{"90":{"location":"X:133216669-133218348","ensembl_id":"ENSG00000183434"}}},"hgnc_date_symbol_changed":"2004-07-15"},"entity_type":"gene","entity_name":"TFDP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41634254"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, TFDP3-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":["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":null,"publications":["40416444","32904102","32528852"],"evidence":["Expert Review Green","ClinGen","Literature"],"phenotypes":["d-bifunctional protein deficiency, MONDO:0009855"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FA","FARR","X25","CyaY"],"biotype":"protein_coding","hgnc_id":"HGNC:3951","gene_name":"frataxin","omim_gene":["606829"],"alias_name":null,"gene_symbol":"FXN","hgnc_symbol":"FXN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:71650175-71715094","ensembl_id":"ENSG00000165060"}},"GRch38":{"90":{"location":"9:69035259-69100178","ensembl_id":"ENSG00000165060"}}},"hgnc_date_symbol_changed":"2004-08-19"},"entity_type":"str","entity_name":"FXN_FRDA_GAA","confidence_level":"3","penetrance":null,"publications":["20301458","8596916"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Friedreich ataxia MIM#229300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GAA","chromosome":"9","grch37_coordinates":[71652203,71652220],"grch38_coordinates":[69037287,69037304],"normal_repeats":33,"pathogenic_repeats":66,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]}}]}