{"count":36080,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=160","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=158","results":[{"gene_data":{"alias":["SYG1","X3","SLC53A1"],"biotype":"protein_coding","hgnc_id":"HGNC:12827","gene_name":"xenotropic and polytropic retrovirus receptor 1","omim_gene":["605237"],"alias_name":["solute carrier family 53 (phosphate exporter), member 1"],"gene_symbol":"XPR1","hgnc_symbol":"XPR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:180601140-180859387","ensembl_id":"ENSG00000143324"}},"GRch38":{"90":{"location":"1:180632004-180890251","ensembl_id":"ENSG00000143324"}}},"hgnc_date_symbol_changed":"1999-02-19"},"entity_type":"gene","entity_name":"XPR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25938945"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Basal ganglia calcification, idiopathic, 6, MIM# 616413"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. 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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":[]},{"gene_data":{"alias":["CSB","RAD26","ARMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3438","gene_name":"ERCC excision repair 6, chromatin remodeling factor","omim_gene":["609413"],"alias_name":["Cockayne syndrome B protein"],"gene_symbol":"ERCC6","hgnc_symbol":"ERCC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50663414-50747584","ensembl_id":"ENSG00000225830"}},"GRch38":{"90":{"location":"10:49455368-49539538","ensembl_id":"ENSG00000225830"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"ERCC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17092472","20522568"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type B, MIM#133540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.8","version_created":"2026-04-26T17:47:33.973929+10:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD118"],"biotype":"protein_coding","hgnc_id":"HGNC:6597","gene_name":"LIF receptor alpha","omim_gene":["151443"],"alias_name":null,"gene_symbol":"LIFR","hgnc_symbol":"LIFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:38475065-38608456","ensembl_id":"ENSG00000113594"}},"GRch38":{"90":{"location":"5:38474963-38608354","ensembl_id":"ENSG00000113594"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"LIFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28334964","38025229"],"evidence":["Victorian Clinical Genetics Services","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["CAKUT MONDO:0019719, LIFR-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ten-M3","KIAA1455"],"biotype":"protein_coding","hgnc_id":"HGNC:29944","gene_name":"teneurin transmembrane protein 3","omim_gene":["610083"],"alias_name":null,"gene_symbol":"TENM3","hgnc_symbol":"TENM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:183065140-183724177","ensembl_id":"ENSG00000218336"}},"GRch38":{"90":{"location":"4:182143987-182803024","ensembl_id":"ENSG00000218336"}}},"hgnc_date_symbol_changed":"2012-10-02"},"entity_type":"gene","entity_name":"TENM3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36911040","32799327"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Microphthalmia, syndromic 15, MIM#\t615145"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BARK1"],"biotype":"protein_coding","hgnc_id":"HGNC:289","gene_name":"G protein-coupled receptor kinase 2","omim_gene":["109635"],"alias_name":null,"gene_symbol":"GRK2","hgnc_symbol":"GRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67033881-67054027","ensembl_id":"ENSG00000173020"}},"GRch38":{"90":{"location":"11:67266410-67286556","ensembl_id":"ENSG00000173020"}}},"hgnc_date_symbol_changed":"2016-05-16"},"entity_type":"gene","entity_name":"GRK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33200460","38647386"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11199","gene_name":"SRY-box 3","omim_gene":["313430"],"alias_name":null,"gene_symbol":"SOX3","hgnc_symbol":"SOX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:139585152-139587225","ensembl_id":"ENSG00000134595"}},"GRch38":{"90":{"location":"X:140502985-140505116","ensembl_id":"ENSG00000134595"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"SOX3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["21183788","22678921","25781358","31523625"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["XX male sex reversal"],"mode_of_inheritance":"Other","tags":["SV/CNV"],"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":"1.53","version_created":"2026-04-27T11:54:15.527406+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"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":[]},{"gene_data":{"alias":["CRYPTIC"],"biotype":"protein_coding","hgnc_id":"HGNC:18292","gene_name":"cripto, FRL-1, cryptic family 1","omim_gene":["605194"],"alias_name":null,"gene_symbol":"CFC1","hgnc_symbol":"CFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:131350339-131357123","ensembl_id":"ENSG00000136698"}},"GRch38":{"90":{"location":"2:130592168-130599575","ensembl_id":"ENSG00000136698"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"CFC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31633655","18162845","25423076","11062482"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Heterotaxy, visceral, 2, autosomal 605376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15672","gene_name":"ALG9, alpha-1,2-mannosyltransferase","omim_gene":["606941"],"alias_name":["dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase","dol-P-Man dependent alpha-1,2-mannosyltransferase"],"gene_symbol":"ALG9","hgnc_symbol":"ALG9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111652919-111742305","ensembl_id":"ENSG00000086848"}},"GRch38":{"90":{"location":"11:111782195-111871581","ensembl_id":"ENSG00000086848"}}},"hgnc_date_symbol_changed":"2004-08-26"},"entity_type":"gene","entity_name":"ALG9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26453364","31420886"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type Il, MIM#608776"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":["bK3184A7.3","NHL","DKFZP434C013","KIAA1088","RTEL"],"biotype":"protein_coding","hgnc_id":"HGNC:15888","gene_name":"regulator of telomere elongation helicase 1","omim_gene":["608833"],"alias_name":null,"gene_symbol":"RTEL1","hgnc_symbol":"RTEL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62289163-62328416","ensembl_id":"ENSG00000258366"}},"GRch38":{"90":{"location":"20:63657810-63696253","ensembl_id":"ENSG00000258366"}}},"hgnc_date_symbol_changed":"2004-10-29"},"entity_type":"gene","entity_name":"RTEL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:535","gene_name":"annexin A11","omim_gene":["602572"],"alias_name":null,"gene_symbol":"ANXA11","hgnc_symbol":"ANXA11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:81910645-81965328","ensembl_id":"ENSG00000122359"}},"GRch38":{"90":{"location":"10:80150889-80205572","ensembl_id":"ENSG00000122359"}}},"hgnc_date_symbol_changed":"1994-05-17"},"entity_type":"gene","entity_name":"ANXA11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28469040","29845112","30109997","34048612"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Inclusion body myopathy and brain white matter abnormalities, MIM# 619733","Amyotrophic lateral sclerosis 23, MIM# 617839"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["adult onset neurodegenerative"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MED1"],"biotype":"protein_coding","hgnc_id":"HGNC:6919","gene_name":"methyl-CpG binding domain 4, DNA glycosylase","omim_gene":["603574"],"alias_name":null,"gene_symbol":"MBD4","hgnc_symbol":"MBD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:129149787-129158878","ensembl_id":"ENSG00000129071"}},"GRch38":{"90":{"location":"3:129430944-129440179","ensembl_id":"ENSG00000129071"}}},"hgnc_date_symbol_changed":"1999-01-11"},"entity_type":"gene","entity_name":"MBD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35460607"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hereditary neoplastic syndrome, MBD4-associated MONDO:0015356"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cancer"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP547N043","Spartan","DVC1"],"biotype":"protein_coding","hgnc_id":"HGNC:25356","gene_name":"SprT-like N-terminal domain","omim_gene":["616086"],"alias_name":["SprT-like domain at the N terminus","DNA damage-targeting VCP (p97) adaptor"],"gene_symbol":"SPRTN","hgnc_symbol":"SPRTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:231472850-231490769","ensembl_id":"ENSG00000010072"}},"GRch38":{"90":{"location":"1:231337104-231355023","ensembl_id":"ENSG00000010072"}}},"hgnc_date_symbol_changed":"2012-06-18"},"entity_type":"gene","entity_name":"SPRTN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25261934"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ruijs-Aalfs syndrome, MIM# 616200","MONDO:0014527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"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":["KIAA1208","MGC4170"],"biotype":"protein_coding","hgnc_id":"HGNC:29670","gene_name":"N-acetylglucosamine-1-phosphate transferase alpha and beta subunits","omim_gene":["607840"],"alias_name":null,"gene_symbol":"GNPTAB","hgnc_symbol":"GNPTAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102139275-102224716","ensembl_id":"ENSG00000111670"}},"GRch38":{"90":{"location":"12:101745497-101830938","ensembl_id":"ENSG00000111670"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"GNPTAB","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":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Repro-SA-1","pf16","CT141"],"biotype":"protein_coding","hgnc_id":"HGNC:11215","gene_name":"sperm associated antigen 6","omim_gene":["605730"],"alias_name":["axoneme central apparatus protein"],"gene_symbol":"SPAG6","hgnc_symbol":"SPAG6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:22634399-22743153","ensembl_id":"ENSG00000077327"}},"GRch38":{"90":{"location":"10:22345445-22454224","ensembl_id":"ENSG00000077327"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"SPAG6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35232447","38073178","32124190"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, SPAG6-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0905","ABP125","ABP130"],"biotype":"protein_coding","hgnc_id":"HGNC:17052","gene_name":"SEC31 homolog A, COPII coat complex component","omim_gene":["610257"],"alias_name":null,"gene_symbol":"SEC31A","hgnc_symbol":"SEC31A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:83739814-83822319","ensembl_id":"ENSG00000138674"}},"GRch38":{"90":{"location":"4:82818661-82901166","ensembl_id":"ENSG00000138674"}}},"hgnc_date_symbol_changed":"2006-09-07"},"entity_type":"gene","entity_name":"SEC31A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30464055","40508110","39725565"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Halperin-Birk syndrome, MIM# 618651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0442","FBRSL2"],"biotype":"protein_coding","hgnc_id":"HGNC:14262","gene_name":"AUTS2, activator of transcription and developmental regulator","omim_gene":["607270"],"alias_name":null,"gene_symbol":"AUTS2","hgnc_symbol":"AUTS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:69063905-70258054","ensembl_id":"ENSG00000158321"}},"GRch38":{"90":{"location":"7:69598919-70793068","ensembl_id":"ENSG00000158321"}}},"hgnc_date_symbol_changed":"2002-11-20"},"entity_type":"gene","entity_name":"AUTS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23332918","25205402","31474318"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 26, MIM# 615834"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gp330","DBS"],"biotype":"protein_coding","hgnc_id":"HGNC:6694","gene_name":"LDL receptor related protein 2","omim_gene":["600073"],"alias_name":["megalin"],"gene_symbol":"LRP2","hgnc_symbol":"LRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169983619-170219195","ensembl_id":"ENSG00000081479"}},"GRch38":{"90":{"location":"2:169127109-169362685","ensembl_id":"ENSG00000081479"}}},"hgnc_date_symbol_changed":"1994-05-04"},"entity_type":"gene","entity_name":"LRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17632512"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Donnai-Barrow syndrome, MIM# 222448"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ATV","AT-V2","AT-V1"],"biotype":"protein_coding","hgnc_id":"HGNC:7652","gene_name":"nibrin","omim_gene":["602667"],"alias_name":null,"gene_symbol":"NBN","hgnc_symbol":"NBN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:90945564-91015456","ensembl_id":"ENSG00000104320"}},"GRch38":{"90":{"location":"8:89933336-90003228","ensembl_id":"ENSG00000104320"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"NBN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33488600","33082212"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nijmegen breakage syndrome, MIM# 251260","MONDO:0009623"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","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":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":["FLJ00026","FLJ00152","ZIR8","FLJ00346"],"biotype":"protein_coding","hgnc_id":"HGNC:19191","gene_name":"dedicator of cytokinesis 8","omim_gene":["611432"],"alias_name":null,"gene_symbol":"DOCK8","hgnc_symbol":"DOCK8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}},"GRch38":{"90":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"DOCK8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyper-IgE recurrent infection syndrome, autosomal recessive, MIM# 243700","Childhood bronchiectasis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DIC5","MGC20486","bA216B9.3","FAP133"],"biotype":"protein_coding","hgnc_id":"HGNC:28296","gene_name":"WD repeat domain 34","omim_gene":["613363"],"alias_name":null,"gene_symbol":"WDR34","hgnc_symbol":"WDR34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131395940-131419066","ensembl_id":"ENSG00000119333"}},"GRch38":{"90":{"location":"9:128633661-128656787","ensembl_id":"ENSG00000119333"}}},"hgnc_date_symbol_changed":"2013-02-19"},"entity_type":"gene","entity_name":"WDR34","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Red","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633"],"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":["pART17"],"biotype":"protein_coding","hgnc_id":"HGNC:26921","gene_name":"poly(ADP-ribose) polymerase family member 6","omim_gene":null,"alias_name":null,"gene_symbol":"PARP6","hgnc_symbol":"PARP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72533522-72565340","ensembl_id":"ENSG00000137817"}},"GRch38":{"90":{"location":"15:72241181-72272999","ensembl_id":"ENSG00000137817"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"PARP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34067418"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","Epilepsy","Microcephaly"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TM7LN4","TM7XN1"],"biotype":"protein_coding","hgnc_id":"HGNC:4512","gene_name":"adhesion G protein-coupled receptor G1","omim_gene":["604110"],"alias_name":null,"gene_symbol":"ADGRG1","hgnc_symbol":"ADGRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57644564-57698944","ensembl_id":"ENSG00000205336"}},"GRch38":{"90":{"location":"16:57610652-57665580","ensembl_id":"ENSG00000205336"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16240336","33299078"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Polymicrogyria, bilateral frontoparietal, MIM#606854"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["5'UTR"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6318","gene_name":"kinesin family member 2A","omim_gene":["602591"],"alias_name":null,"gene_symbol":"KIF2A","hgnc_symbol":"KIF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:61601989-61833076","ensembl_id":"ENSG00000068796"}},"GRch38":{"90":{"location":"5:62306162-62537249","ensembl_id":"ENSG00000068796"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"KIF2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","27896282","27747449","29077851","31919497"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564I122","cblC"],"biotype":"protein_coding","hgnc_id":"HGNC:24525","gene_name":"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria","omim_gene":["609831"],"alias_name":null,"gene_symbol":"MMACHC","hgnc_symbol":"MMACHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45965725-45976739","ensembl_id":"ENSG00000132763"}},"GRch38":{"90":{"location":"1:45500053-45513382","ensembl_id":"ENSG00000132763"}}},"hgnc_date_symbol_changed":"2006-01-12"},"entity_type":"gene","entity_name":"MMACHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308","16311595"],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Methylmalonic aciduria and homocystinuria, cblC type MIM#277400"],"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":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF113","Cwc24"],"biotype":"protein_coding","hgnc_id":"HGNC:12974","gene_name":"ring finger protein 113A","omim_gene":["300951"],"alias_name":null,"gene_symbol":"RNF113A","hgnc_symbol":"RNF113A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119004497-119005791","ensembl_id":"ENSG00000125352"}},"GRch38":{"90":{"location":"X:119870475-119871827","ensembl_id":"ENSG00000125352"}}},"hgnc_date_symbol_changed":"2005-03-22"},"entity_type":"gene","entity_name":"RNF113A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25612912","31880405","31793730","29133357","30506991","15256591","24026126","23555887"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Trichothiodystrophy 5, nonphotosensitive, MIM#300953"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GluK2","MRT6"],"biotype":"protein_coding","hgnc_id":"HGNC:4580","gene_name":"glutamate ionotropic receptor kainate type subunit 2","omim_gene":["138244"],"alias_name":null,"gene_symbol":"GRIK2","hgnc_symbol":"GRIK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:101846664-102517958","ensembl_id":"ENSG00000164418"}},"GRch38":{"90":{"location":"6:101398788-102070083","ensembl_id":"ENSG00000164418"}}},"hgnc_date_symbol_changed":"1992-02-26"},"entity_type":"gene","entity_name":"GRIK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34375587","17847003","25039795"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 6 MIM#611092","Neurodevelopmental disorder with impaired language and ataxia and with or without seizures MIM#619580"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL640","FLJ26072"],"biotype":"protein_coding","hgnc_id":"HGNC:25223","gene_name":"coenzyme Q2, polyprenyltransferase","omim_gene":["609825"],"alias_name":["4-hydroxybenzoate polyprenyltransferase"],"gene_symbol":"COQ2","hgnc_symbol":"COQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:84182689-84206067","ensembl_id":"ENSG00000173085"}},"GRch38":{"90":{"location":"4:83261536-83284914","ensembl_id":"ENSG00000173085"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"COQ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16400613","17332895","17855635"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Coenzyme Q10 deficiency, primary, 1, MIM# 607426","MONDO:0011829"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OMI","PARK13"],"biotype":"protein_coding","hgnc_id":"HGNC:14348","gene_name":"HtrA serine peptidase 2","omim_gene":["606441"],"alias_name":null,"gene_symbol":"HTRA2","hgnc_symbol":"HTRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74756504-74760472","ensembl_id":"ENSG00000115317"}},"GRch38":{"90":{"location":"2:74529377-74533348","ensembl_id":"ENSG00000115317"}}},"hgnc_date_symbol_changed":"2005-08-19"},"entity_type":"gene","entity_name":"HTRA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27208207","27696117"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["3-methylglutaconic aciduria, type VIII, MIM#\t617248"],"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":["MTPOLB","HP55"],"biotype":"protein_coding","hgnc_id":"HGNC:9180","gene_name":"DNA polymerase gamma 2, accessory 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Red","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9988","gene_name":"regulatory factor X associated protein","omim_gene":["601861"],"alias_name":null,"gene_symbol":"RFXAP","hgnc_symbol":"RFXAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37393361-37403241","ensembl_id":"ENSG00000133111"}},"GRch38":{"90":{"location":"13:36819224-36829104","ensembl_id":"ENSG00000133111"}}},"hgnc_date_symbol_changed":"1997-11-05"},"entity_type":"gene","entity_name":"RFXAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9118943","32875002","11258423"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group D MIM# 209920","Low CD4+ T cells","reduced MHC II expression on lymphocytes","Normal-low Ig levels","Failure to thrive","respiratory/gastrointestinal infections","liver/biliary tract disease","diarrhoea","Severe autoimmune cytopaenia","agammaglobulinaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"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":["CstF-64"],"biotype":"protein_coding","hgnc_id":"HGNC:2484","gene_name":"cleavage stimulation factor subunit 2","omim_gene":["300907"],"alias_name":null,"gene_symbol":"CSTF2","hgnc_symbol":"CSTF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100075384-100095921","ensembl_id":"ENSG00000101811"}},"GRch38":{"90":{"location":"X:100820359-100840932","ensembl_id":"ENSG00000101811"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"CSTF2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32816001"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked 113, MIM# 301116"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SELB","EFSEC","eEFSec"],"biotype":"protein_coding","hgnc_id":"HGNC:24614","gene_name":"eukaryotic elongation factor, selenocysteine-tRNA specific","omim_gene":["607695"],"alias_name":["elongation factor for selenoprotein translation","selenocysteine (Sec)-specific eukaryotic elongation factor"],"gene_symbol":"EEFSEC","hgnc_symbol":"EEFSEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:127872297-128127485","ensembl_id":"ENSG00000132394"}},"GRch38":{"90":{"location":"3:128153454-128408646","ensembl_id":"ENSG00000132394"}}},"hgnc_date_symbol_changed":"2005-04-08"},"entity_type":"gene","entity_name":"EEFSEC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39753114"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102"],"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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Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5136","gene_name":"homeobox D13","omim_gene":["142989"],"alias_name":null,"gene_symbol":"HOXD13","hgnc_symbol":"HOXD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176957619-176960666","ensembl_id":"ENSG00000128714"}},"GRch38":{"90":{"location":"2:176092891-176095938","ensembl_id":"ENSG00000128714"}}},"hgnc_date_symbol_changed":"1991-05-08"},"entity_type":"gene","entity_name":"HOXD13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12649808","17236141","34777468","32509852"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200","Syndactyly, type V, MIM# 186300","Synpolydactyly 1, MIM# 186000","Brachydactyly-syndactyly syndrome, MIM# 610713"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IDD","MED","EDM3","FLJ90759","DJ885L7.4.1"],"biotype":"protein_coding","hgnc_id":"HGNC:2219","gene_name":"collagen type IX alpha 3 chain","omim_gene":["120270"],"alias_name":["collagen type IX proteoglycan"],"gene_symbol":"COL9A3","hgnc_symbol":"COL9A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:61447596-61472511","ensembl_id":"ENSG00000092758"}},"GRch38":{"90":{"location":"20:62816244-62841159","ensembl_id":"ENSG00000092758"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"COL9A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33570243","31090205","30450842","25381065","24273071","15551337"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969","Stickler syndrome"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSA9947","CLN12"],"biotype":"protein_coding","hgnc_id":"HGNC:30213","gene_name":"ATPase 13A2","omim_gene":["610513"],"alias_name":null,"gene_symbol":"ATP13A2","hgnc_symbol":"ATP13A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17312453-17338423","ensembl_id":"ENSG00000159363"}},"GRch38":{"90":{"location":"1:16985958-17011928","ensembl_id":"ENSG00000159363"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ATP13A2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Kufor-Rakeb syndrome, MIM# 606693","Spastic paraplegia 78, autosomal recessive, MIM# 617225"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BHC80","KIAA1696","BM-006"],"biotype":"protein_coding","hgnc_id":"HGNC:24156","gene_name":"PHD finger protein 21A","omim_gene":["608325"],"alias_name":null,"gene_symbol":"PHF21A","hgnc_symbol":"PHF21A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:45950871-46142985","ensembl_id":"ENSG00000135365"}},"GRch38":{"90":{"location":"11:45929323-46121178","ensembl_id":"ENSG00000135365"}}},"hgnc_date_symbol_changed":"2005-02-07"},"entity_type":"gene","entity_name":"PHF21A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31649809","30487643","22770980"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11449","gene_name":"succinate-CoA ligase alpha subunit","omim_gene":["611224"],"alias_name":null,"gene_symbol":"SUCLG1","hgnc_symbol":"SUCLG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:84650647-84687169","ensembl_id":"ENSG00000163541"}},"GRch38":{"90":{"location":"2:84423523-84460045","ensembl_id":"ENSG00000163541"}}},"hgnc_date_symbol_changed":"1998-11-11"},"entity_type":"gene","entity_name":"SUCLG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21093335","17668387","19526370","20693550","30470562","33230783","28358460"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cernunnos","XLF","FLJ12610"],"biotype":"protein_coding","hgnc_id":"HGNC:25737","gene_name":"non-homologous end joining factor 1","omim_gene":["611290"],"alias_name":["XRCC4-like factor"],"gene_symbol":"NHEJ1","hgnc_symbol":"NHEJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219940039-220025587","ensembl_id":"ENSG00000187736"}},"GRch38":{"90":{"location":"2:219075317-219160865","ensembl_id":"ENSG00000187736"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"NHEJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16439204","16439205","37703920"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11581","gene_name":"tubulin folding cofactor D","omim_gene":["604649"],"alias_name":null,"gene_symbol":"TBCD","hgnc_symbol":"TBCD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:80709940-80900724","ensembl_id":"ENSG00000141556"}},"GRch38":{"90":{"location":"17:82752064-82945922","ensembl_id":"ENSG00000141556"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"TBCD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27666374","27666370","27807845","31569255"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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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":["EDA1","XLHED","HED","XHED","ED1-A1","ED1-A2","EDA-A1","EDA-A2"],"biotype":"protein_coding","hgnc_id":"HGNC:3157","gene_name":"ectodysplasin A","omim_gene":["300451"],"alias_name":null,"gene_symbol":"EDA","hgnc_symbol":"EDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:68835911-69259319","ensembl_id":"ENSG00000158813"}},"GRch38":{"90":{"location":"X:69616067-70039469","ensembl_id":"ENSG00000158813"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"EDA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100","Tooth agenesis, selective, X-linked 1 MIM#313500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1977311","11528502","12948746"],"evidence":["Expert Review Green","KidGen_MetabolicRenal v38.1.0","KidGen_MetabolicRenal v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Methylmalonic aciduria, mut(0) type, MIM# 251000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WAGR","WIT-2","AWT1","NPHS4"],"biotype":"protein_coding","hgnc_id":"HGNC:12796","gene_name":"Wilms tumor 1","omim_gene":["607102"],"alias_name":null,"gene_symbol":"WT1","hgnc_symbol":"WT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:32409321-32457176","ensembl_id":"ENSG00000184937"}},"GRch38":{"90":{"location":"11:32387775-32435630","ensembl_id":"ENSG00000184937"}}},"hgnc_date_symbol_changed":"1989-04-13"},"entity_type":"gene","entity_name":"WT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35802134"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Wilms' tumor MIM#194070"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. 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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":["FLJ30681","KIAA1983"],"biotype":"protein_coding","hgnc_id":"HGNC:29426","gene_name":"collagen and calcium binding EGF domains 1","omim_gene":["612753"],"alias_name":null,"gene_symbol":"CCBE1","hgnc_symbol":"CCBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:57098172-57364612","ensembl_id":"ENSG00000183287"}},"GRch38":{"90":{"location":"18:59430940-59697380","ensembl_id":"ENSG00000183287"}}},"hgnc_date_symbol_changed":"2005-01-18"},"entity_type":"gene","entity_name":"CCBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19935664","19911200","19287381","25925991","27345729","21778431"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hennekam lymphangiectasia-lymphoedema syndrome 1 MIM#235510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TNSALP"],"biotype":"protein_coding","hgnc_id":"HGNC:438","gene_name":"alkaline phosphatase, liver/bone/kidney","omim_gene":["171760"],"alias_name":null,"gene_symbol":"ALPL","hgnc_symbol":"ALPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:21835858-21904905","ensembl_id":"ENSG00000162551"}},"GRch38":{"90":{"location":"1:21509372-21578412","ensembl_id":"ENSG00000162551"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALPL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["3174660, 1409720"],"evidence":["Expert review  Green"],"phenotypes":["disorder of bone metabolism","Hypophosphatasia","Disorders of pyridoxine metabolism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["sWSS2608","LCA11"],"biotype":"protein_coding","hgnc_id":"HGNC:6052","gene_name":"inosine monophosphate dehydrogenase 1","omim_gene":["146690"],"alias_name":null,"gene_symbol":"IMPDH1","hgnc_symbol":"IMPDH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128032331-128050306","ensembl_id":"ENSG00000106348"}},"GRch38":{"90":{"location":"7:128392277-128410252","ensembl_id":"ENSG00000106348"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"IMPDH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11875049","16384941","11875050"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Disorders of purine metabolism","retinitis pigmentosa MONDO:0019200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null}]}