{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=270","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=268","results":[{"gene_data":{"alias":["KIAA0208"],"biotype":"protein_coding","hgnc_id":"HGNC:3087","gene_name":"dishevelled segment polarity protein 3","omim_gene":["601368"],"alias_name":null,"gene_symbol":"DVL3","hgnc_symbol":"DVL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183873176-183891398","ensembl_id":"ENSG00000161202"}},"GRch38":{"90":{"location":"3:184155388-184173610","ensembl_id":"ENSG00000161202"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"DVL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25577943"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Robinow syndrome, autosomal dominant 3-MIM#616894"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15689448"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Bethlem myopathy, MIM#158810","Ullrich congenital muscular dystrophy, MIM#254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30690204"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602","hydrops","arthrogryposis","microcephaly","malformations of cortical development","dysmorphic features","severe respiratory insufficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p190","Caspr","CNTNAP"],"biotype":"protein_coding","hgnc_id":"HGNC:8011","gene_name":"contactin associated protein 1","omim_gene":["602346"],"alias_name":["neurexin 4"],"gene_symbol":"CNTNAP1","hgnc_symbol":"CNTNAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40834631-40851832","ensembl_id":"ENSG00000108797"}},"GRch38":{"90":{"location":"17:42682613-42699814","ensembl_id":"ENSG00000108797"}}},"hgnc_date_symbol_changed":"1998-10-14"},"entity_type":"gene","entity_name":"CNTNAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28374019","29511323","27668699"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Hypomyelinating neuropathy, congenital, 3, MIM#618186","Lethal congenital contracture syndrome 7, MIM# 616286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0424","PEM-2"],"biotype":"protein_coding","hgnc_id":"HGNC:14561","gene_name":"Cdc42 guanine nucleotide exchange factor 9","omim_gene":["300429"],"alias_name":["collybistin"],"gene_symbol":"ARHGEF9","hgnc_symbol":"ARHGEF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:62854847-63005426","ensembl_id":"ENSG00000131089"}},"GRch38":{"90":{"location":"X:63634967-63809274","ensembl_id":"ENSG00000131089"}}},"hgnc_date_symbol_changed":"2001-02-06"},"entity_type":"gene","entity_name":"ARHGEF9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 8, MIM#300607"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp547M236","ZnT-10","ZRC1","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:25355","gene_name":"solute carrier family 30 member 10","omim_gene":["611146"],"alias_name":["zinc transporter 8"],"gene_symbol":"SLC30A10","hgnc_symbol":"SLC30A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:219858769-220131989","ensembl_id":"ENSG00000196660"}},"GRch38":{"90":{"location":"1:219685427-219958647","ensembl_id":"ENSG00000196660"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"SLC30A10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypermanganesemia with dystonia 1, MIM# 613280"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":["FANCU"],"biotype":"protein_coding","hgnc_id":"HGNC:12829","gene_name":"X-ray repair cross complementing 2","omim_gene":["600375"],"alias_name":["RAD51-like"],"gene_symbol":"XRCC2","hgnc_symbol":"XRCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:152341864-152373250","ensembl_id":"ENSG00000196584"}},"GRch38":{"90":{"location":"7:152644779-152676165","ensembl_id":"ENSG00000196584"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"XRCC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["27208205","22232082","11118202"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Fanconi anemia, complementation group U, MIM# 617247"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MRK","LCK2","KIAA0936","MGC46090"],"biotype":"protein_coding","hgnc_id":"HGNC:21219","gene_name":"intestinal cell kinase","omim_gene":["612325"],"alias_name":["serine/threonine-protein kinase ICK","MAK-related kinase"],"gene_symbol":"ICK","hgnc_symbol":"ICK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:52866077-52926600","ensembl_id":"ENSG00000112144"}},"GRch38":{"90":{"location":"6:53001279-53061802","ensembl_id":"ENSG00000112144"}}},"hgnc_date_symbol_changed":"2003-08-21"},"entity_type":"gene","entity_name":"ICK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19185282","27069622","27466187","24797473","24853502"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Endocrine-cerebroosteodysplasia (MIM#612651)","Cranioectodermal dysplasia 6, MIM# 621337"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1R"],"biotype":"protein_coding","hgnc_id":"HGNC:143","gene_name":"actin, alpha, cardiac muscle 1","omim_gene":["102540"],"alias_name":null,"gene_symbol":"ACTC1","hgnc_symbol":"ACTC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:35080297-35088340","ensembl_id":"ENSG00000159251"}},"GRch38":{"90":{"location":"15:34788096-34796139","ensembl_id":"ENSG00000159251"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ACTC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31430208","30384889","9563954","14605248","20600154","26432839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1R, MIM# 613424"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review"],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:414","gene_name":"aldolase, fructose-bisphosphate A","omim_gene":["103850"],"alias_name":null,"gene_symbol":"ALDOA","hgnc_symbol":"ALDOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30064411-30081778","ensembl_id":"ENSG00000149925"}},"GRch38":{"90":{"location":"16:30053090-30070457","ensembl_id":"ENSG00000149925"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7331996","8598869","25392908"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycogen storage disease XII , MIM#611881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434D0513","KIAA1864","PPP1R31","CILD5"],"biotype":"protein_coding","hgnc_id":"HGNC:19368","gene_name":"HYDIN, axonemal central pair apparatus protein","omim_gene":["610812"],"alias_name":["protein phosphatase 1, regulatory subunit 31"],"gene_symbol":"HYDIN","hgnc_symbol":"HYDIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70841281-71264625","ensembl_id":"ENSG00000157423"}},"GRch38":{"90":{"location":"16:70807378-71230722","ensembl_id":"ENSG00000157423"}}},"hgnc_date_symbol_changed":"2003-06-27"},"entity_type":"gene","entity_name":"HYDIN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23022101","23849777"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 5 (MIM#08647)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L5","PPP1R135"],"biotype":"protein_coding","hgnc_id":"HGNC:10360","gene_name":"ribosomal protein L5","omim_gene":["603634"],"alias_name":["protein phosphatase 1, regulatory subunit 135"],"gene_symbol":"RPL5","hgnc_symbol":"RPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:93297582-93307481","ensembl_id":"ENSG00000122406"}},"GRch38":{"90":{"location":"1:92832025-92841924","ensembl_id":"ENSG00000122406"}}},"hgnc_date_symbol_changed":"1995-09-08"},"entity_type":"gene","entity_name":"RPL5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301769"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Diamond-Blackfan anemia 6, MIM#\t612561"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17558409","17558407","17960139","26071364"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 7, MIM# 611560","Meckel syndrome 5, MIM# 611561"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Mi-2a","ZFH","Mi2-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:1918","gene_name":"chromodomain helicase DNA binding protein 3","omim_gene":["602120"],"alias_name":null,"gene_symbol":"CHD3","hgnc_symbol":"CHD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7788124-7816078","ensembl_id":"ENSG00000170004"}},"GRch38":{"90":{"location":"17:7884806-7912760","ensembl_id":"ENSG00000170004"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD3","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10257","gene_name":"receptor tyrosine kinase like orphan receptor 2","omim_gene":["602337"],"alias_name":null,"gene_symbol":"ROR2","hgnc_symbol":"ROR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94325373-94712444","ensembl_id":"ENSG00000169071"}},"GRch38":{"90":{"location":"9:91563091-91950162","ensembl_id":"ENSG00000169071"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ROR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10932186","10932187","10986040","19461659"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Robinow syndrome, autosomal recessive MIM# 268310","hypertelorism","short stature","mesomelic shortening of the limbs","hypoplastic genitalia","rib/vertebral anomalies","abnormal morphogenesis of the face","Brachydactyly, type B1 MIM# 113000","hypoplasia/aplasia of distal phalanges and nails (2-5)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13386"],"biotype":"protein_coding","hgnc_id":"HGNC:25815","gene_name":"centrosomal protein 63","omim_gene":["614724"],"alias_name":null,"gene_symbol":"CEP63","hgnc_symbol":"CEP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134204585-134293859","ensembl_id":"ENSG00000182923"}},"GRch38":{"90":{"location":"3:134485743-134575017","ensembl_id":"ENSG00000182923"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP63","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21983783","26158450"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Seckel syndrome 6, MIM#614728"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DGCR1","TUP1"],"biotype":"protein_coding","hgnc_id":"HGNC:4916","gene_name":"histone cell cycle regulator","omim_gene":["600237"],"alias_name":["DiGeorge critical region gene 1"],"gene_symbol":"HIRA","hgnc_symbol":"HIRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19318221-19435224","ensembl_id":"ENSG00000100084"}},"GRch38":{"90":{"location":"22:19330698-19447450","ensembl_id":"ENSG00000100084"}}},"hgnc_date_symbol_changed":"1994-04-21"},"entity_type":"gene","entity_name":"HIRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33417013","28135719","25363760"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, HIRA-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0311","mAKAP","AKAP100","PRKA6","ADAP6"],"biotype":"protein_coding","hgnc_id":"HGNC:376","gene_name":"A-kinase anchoring protein 6","omim_gene":["604691"],"alias_name":["protein kinase A anchoring protein 6"],"gene_symbol":"AKAP6","hgnc_symbol":"AKAP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:32798479-33300567","ensembl_id":"ENSG00000151320"}},"GRch38":{"90":{"location":"14:32329273-32837681","ensembl_id":"ENSG00000151320"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"AKAP6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28600779"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, AKAP6-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17185","gene_name":"ankyrin repeat and SOCS box containing 10","omim_gene":["615054"],"alias_name":null,"gene_symbol":"ASB10","hgnc_symbol":"ASB10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150872785-150884919","ensembl_id":"ENSG00000146926"}},"GRch38":{"90":{"location":"7:151175698-151187832","ensembl_id":"ENSG00000146926"}}},"hgnc_date_symbol_changed":"2001-12-05"},"entity_type":"gene","entity_name":"ASB10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID: 26713451","22156576"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Glaucoma 1, open angle, F MIM#603383"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SERCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:811","gene_name":"ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1","omim_gene":["108730"],"alias_name":["sarcoplasmic/endoplasmic reticulum calcium ATPase 1","calcium pump 1"],"gene_symbol":"ATP2A1","hgnc_symbol":"ATP2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:28889726-28915830","ensembl_id":"ENSG00000196296"}},"GRch38":{"90":{"location":"16:28878405-28904509","ensembl_id":"ENSG00000196296"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"ATP2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32040565"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brody myopathy, OMIM # 601003"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ43808"],"biotype":"protein_coding","hgnc_id":"HGNC:2941","gene_name":"dynein axonemal heavy chain 10","omim_gene":["605884"],"alias_name":null,"gene_symbol":"DNAH10","hgnc_symbol":"DNAH10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:124247042-124420753","ensembl_id":"ENSG00000197653"}},"GRch38":{"90":{"location":"12:123762188-123936206","ensembl_id":"ENSG00000197653"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"DNAH10","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["34237282"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 56, MIM#\t619515"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CAMP","CHAMP"],"biotype":"protein_coding","hgnc_id":"HGNC:20311","gene_name":"chromosome alignment maintaining phosphoprotein 1","omim_gene":["616327"],"alias_name":["chromosome alignment-maintaining phosphoprotein"],"gene_symbol":"CHAMP1","hgnc_symbol":"CHAMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:115079988-115092796","ensembl_id":"ENSG00000198824"}},"GRch38":{"90":{"location":"13:114314513-114327328","ensembl_id":"ENSG00000198824"}}},"hgnc_date_symbol_changed":"2011-10-07"},"entity_type":"gene","entity_name":"CHAMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27148580","26340335"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 40 (MIM#616579)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22259","DKFZp686I14213"],"biotype":"protein_coding","hgnc_id":"HGNC:2203","gene_name":"collagen type IV alpha 2 chain","omim_gene":["120090"],"alias_name":["canstatin","collagen type IV alpha 2"],"gene_symbol":"COL4A2","hgnc_symbol":"COL4A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:110958159-111165374","ensembl_id":"ENSG00000134871"}},"GRch38":{"90":{"location":"13:110305812-110513027","ensembl_id":"ENSG00000134871"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33528536","33912663","22209246","30315939","22333902"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cerebral Palsy MONDO#0006497, COL4A2-related","Brain small vessel disease 2A, autosomal dominant MIM# 614483","Brain small vessel disease 2B, autosomal recessive, MIM# 621414"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19442771","19361615","22499340","23456818","27925158","32753734"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091","MONDO:0013127"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FREAC3","ARA","IGDA","IHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:3800","gene_name":"forkhead box C1","omim_gene":["601090"],"alias_name":null,"gene_symbol":"FOXC1","hgnc_symbol":"FOXC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1610681-1614127","ensembl_id":"ENSG00000054598"}},"GRch38":{"90":{"location":"6:1609972-1613897","ensembl_id":"ENSG00000054598"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9792859","10713890","19668217","32720677"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Axenfeld-Rieger syndrome, type 3, MIM# 602482"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TSLRP","LRTP","CILD19"],"biotype":"protein_coding","hgnc_id":"HGNC:16725","gene_name":"leucine rich repeat containing 6","omim_gene":["614930"],"alias_name":["leucine rich testes protein"],"gene_symbol":"LRRC6","hgnc_symbol":"LRRC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133584320-133687838","ensembl_id":"ENSG00000129295"}},"GRch38":{"90":{"location":"8:132571953-132675617","ensembl_id":"ENSG00000129295"}}},"hgnc_date_symbol_changed":"2004-07-09"},"entity_type":"gene","entity_name":"LRRC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23122589","23891469","32622824","29511670"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 19, MIM# 614935"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-75k"],"biotype":"protein_coding","hgnc_id":"HGNC:7707","gene_name":"NADH:ubiquinone oxidoreductase core subunit S1","omim_gene":["157655"],"alias_name":["complex I 75kDa subunit","NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"],"gene_symbol":"NDUFS1","hgnc_symbol":"NDUFS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:206979541-207024327","ensembl_id":"ENSG00000023228"}},"GRch38":{"90":{"location":"2:206114817-206159603","ensembl_id":"ENSG00000023228"}}},"hgnc_date_symbol_changed":"1992-04-03"},"entity_type":"gene","entity_name":"NDUFS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33751534","24952175","20382551","21203893","20797884","15824269","25615419","11349233","22399432"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSMF","CHN","NOR1","MINOR"],"biotype":"protein_coding","hgnc_id":"HGNC:7982","gene_name":"nuclear receptor subfamily 4 group A member 3","omim_gene":["600542"],"alias_name":null,"gene_symbol":"NR4A3","hgnc_symbol":"NR4A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:102584137-102629173","ensembl_id":"ENSG00000119508"}},"GRch38":{"90":{"location":"9:99821855-99866891","ensembl_id":"ENSG00000119508"}}},"hgnc_date_symbol_changed":"1999-09-24"},"entity_type":"gene","entity_name":"NR4A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19625727","24499211"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type It 614921","Glycogen storage disorder XIV"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ33071","HIT-4"],"biotype":"protein_coding","hgnc_id":"HGNC:26573","gene_name":"zinc finger protein 597","omim_gene":["614685"],"alias_name":null,"gene_symbol":"ZNF597","hgnc_symbol":"ZNF597","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3486104-3493542","ensembl_id":"ENSG00000167981"}},"GRch38":{"90":{"location":"16:3432422-3443542","ensembl_id":"ENSG00000167981"}}},"hgnc_date_symbol_changed":"2004-03-01"},"entity_type":"gene","entity_name":"ZNF597","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["19968752","28157578","32576657"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Recurrent pregnancy loss susceptibility, MONDO:0000144"],"mode_of_inheritance":"Other","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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14937","gene_name":"phosphatidylinositol glycan anchor biosynthesis class S","omim_gene":["610271"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"PIGS","hgnc_symbol":"PIGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26880401-26898890","ensembl_id":"ENSG00000087111"}},"GRch38":{"90":{"location":"17:28553383-28571872","ensembl_id":"ENSG00000087111"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PIGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269814"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Glycosylphosphatidylinositol biosynthesis defect 18\t618143"],"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":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16993","gene_name":"Sec61 translocon beta subunit","omim_gene":["609214"],"alias_name":null,"gene_symbol":"SEC61B","hgnc_symbol":"SEC61B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:101984346-101992897","ensembl_id":"ENSG00000106803"}},"GRch38":{"90":{"location":"9:99222064-99230615","ensembl_id":"ENSG00000106803"}}},"hgnc_date_symbol_changed":"2003-10-13"},"entity_type":"gene","entity_name":"SEC61B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28862642","30652979","28375157"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Polycystic liver disease with or without renal cysts"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FRP1","SCKL","SCKL1","MEC1"],"biotype":"protein_coding","hgnc_id":"HGNC:882","gene_name":"ATR serine/threonine kinase","omim_gene":["601215"],"alias_name":["MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"],"gene_symbol":"ATR","hgnc_symbol":"ATR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:142168077-142297668","ensembl_id":"ENSG00000175054"}},"GRch38":{"90":{"location":"3:142449235-142578826","ensembl_id":"ENSG00000175054"}}},"hgnc_date_symbol_changed":"1998-04-06"},"entity_type":"gene","entity_name":"ATR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12640452","19620979","30199583","23111928"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Seckel syndrome 1, MIM# 210600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HYD1","OFC5"],"biotype":"protein_coding","hgnc_id":"HGNC:7391","gene_name":"msh homeobox 1","omim_gene":["142983"],"alias_name":null,"gene_symbol":"MSX1","hgnc_symbol":"MSX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:4861393-4865663","ensembl_id":"ENSG00000163132"}},"GRch38":{"90":{"location":"4:4859666-4863936","ensembl_id":"ENSG00000163132"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"MSX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["Tooth agenesis, selective, 1, MONDO:0007129"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":148,"hash_id":null,"name":"Oligodontia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.33","version_created":"2026-02-21T15:35:59.668194+11:00","relevant_disorders":["Abnormal number of teeth HP:0006483"],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6416","gene_name":"keratin 14","omim_gene":["148066"],"alias_name":["epidermolysis bullosa simplex, Dowling-Meara, Koebner"],"gene_symbol":"KRT14","hgnc_symbol":"KRT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39738531-39743173","ensembl_id":"ENSG00000186847"}},"GRch38":{"90":{"location":"17:41582279-41586921","ensembl_id":"ENSG00000186847"}}},"hgnc_date_symbol_changed":"1992-04-09"},"entity_type":"gene","entity_name":"KRT14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31525823","16960809","19040520"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Naegeli-Franceschetti-Jadassohn syndrome (MIM#161000)","Dermatopathia pigmentosa reticularis (MIM#125595)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L26"],"biotype":"protein_coding","hgnc_id":"HGNC:10327","gene_name":"ribosomal protein L26","omim_gene":["603704"],"alias_name":null,"gene_symbol":"RPL26","hgnc_symbol":"RPL26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8280838-8286531","ensembl_id":"ENSG00000161970"}},"GRch38":{"90":{"location":"17:8377520-8383213","ensembl_id":"ENSG00000161970"}}},"hgnc_date_symbol_changed":"1993-06-15"},"entity_type":"gene","entity_name":"RPL26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22431104","39268718"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 11, MIM# 614900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28373276","32595772"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["5'UTR"],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed 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 macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:25151","gene_name":"adenosine deaminase, tRNA specific 3","omim_gene":["615302"],"alias_name":["tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"],"gene_symbol":"ADAT3","hgnc_symbol":"ADAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1905377-1913444","ensembl_id":"ENSG00000213638"}},"GRch38":{"90":{"location":"19:1905378-1913447","ensembl_id":"ENSG00000213638"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"ADAT3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26842963","23620220","30296593"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mental retardation autosomal recessive 36, 615286"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["H3.3B"],"biotype":"protein_coding","hgnc_id":"HGNC:4765","gene_name":"H3 histone family member 3B","omim_gene":["601058"],"alias_name":null,"gene_symbol":"H3F3B","hgnc_symbol":"H3F3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73772515-73781974","ensembl_id":"ENSG00000132475"}},"GRch38":{"90":{"location":"17:75776434-75785893","ensembl_id":"ENSG00000132475"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"H3F3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33268356"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bryant-Li-Bhoj neurodevelopmental syndrome 2 MIM#619721"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:132","gene_name":"actin beta","omim_gene":["102630"],"alias_name":null,"gene_symbol":"ACTB","hgnc_symbol":"ACTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:5566782-5603415","ensembl_id":"ENSG00000075624"}},"GRch38":{"90":{"location":"7:5527151-5563784","ensembl_id":"ENSG00000075624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID:22366783,25052316,31970217)"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CG22","CKAPI"],"biotype":"protein_coding","hgnc_id":"HGNC:1989","gene_name":"tubulin folding cofactor B","omim_gene":["601303"],"alias_name":null,"gene_symbol":"TBCB","hgnc_symbol":"TBCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36605191-36616849","ensembl_id":"ENSG00000105254"}},"GRch38":{"90":{"location":"19:36114289-36125947","ensembl_id":"ENSG00000105254"}}},"hgnc_date_symbol_changed":"2006-11-22"},"entity_type":"gene","entity_name":"TBCB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40856104"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with behavioural abnormalities and childhood onset spastic paraplegia, MIM# 621382"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ236A3.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21062","gene_name":"phenylalanyl-tRNA synthetase 2, mitochondrial","omim_gene":["611592"],"alias_name":["phenylalanine tRNA ligase 2, mitochondrial"],"gene_symbol":"FARS2","hgnc_symbol":"FARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:5261277-5771813","ensembl_id":"ENSG00000145982"}},"GRch38":{"90":{"location":"6:5261044-5771580","ensembl_id":"ENSG00000145982"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"FARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HPE5"],"biotype":"protein_coding","hgnc_id":"HGNC:12873","gene_name":"Zic family member 2","omim_gene":["603073"],"alias_name":["Zinc finger protein of the cerebellum 2"],"gene_symbol":"ZIC2","hgnc_symbol":"ZIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100634026-100639018","ensembl_id":"ENSG00000043355"}},"GRch38":{"90":{"location":"13:99981772-99986773","ensembl_id":"ENSG00000043355"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"ZIC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAT"],"biotype":"protein_coding","hgnc_id":"HGNC:11049","gene_name":"solute carrier family 6 member 3","omim_gene":["126455"],"alias_name":["dopamine transporter"],"gene_symbol":"SLC6A3","hgnc_symbol":"SLC6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:1392909-1445545","ensembl_id":"ENSG00000142319"}},"GRch38":{"90":{"location":"5:1392790-1445430","ensembl_id":"ENSG00000142319"}}},"hgnc_date_symbol_changed":"1994-03-16"},"entity_type":"gene","entity_name":"SLC6A3","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":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":["JBTS22"],"biotype":"protein_coding","hgnc_id":"HGNC:8788","gene_name":"phosphodiesterase 6D","omim_gene":["602676"],"alias_name":null,"gene_symbol":"PDE6D","hgnc_symbol":"PDE6D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232597135-232650982","ensembl_id":"ENSG00000156973"}},"GRch38":{"90":{"location":"2:231732425-231786272","ensembl_id":"ENSG00000156973"}}},"hgnc_date_symbol_changed":"1997-11-03"},"entity_type":"gene","entity_name":"PDE6D","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24166846","30423442"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 22, OMIM #615665"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":["HtrA","IGFBP5-protease","ARMD7"],"biotype":"protein_coding","hgnc_id":"HGNC:9476","gene_name":"HtrA serine peptidase 1","omim_gene":["602194"],"alias_name":null,"gene_symbol":"HTRA1","hgnc_symbol":"HTRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:124221041-124274424","ensembl_id":"ENSG00000166033"}},"GRch38":{"90":{"location":"10:122461525-122514908","ensembl_id":"ENSG00000166033"}}},"hgnc_date_symbol_changed":"2005-08-18"},"entity_type":"gene","entity_name":"HTRA1","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":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":["p62","DKFZp547L134","IBSN","SNDI","MGC841","FLJ20822","FLJ43869"],"biotype":"protein_coding","hgnc_id":"HGNC:8066","gene_name":"nucleoporin 62","omim_gene":["605815"],"alias_name":["nuclear pore glycoprotein p62"],"gene_symbol":"NUP62","hgnc_symbol":"NUP62","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50410082-50433020","ensembl_id":"ENSG00000213024"}},"GRch38":{"90":{"location":"19:49906825-49929763","ensembl_id":"ENSG00000213024"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"NUP62","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["16786527"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Striatonigral degeneration, infantile, MIM#271930"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10603","gene_name":"SCO1, cytochrome c oxidase assembly protein","omim_gene":["603644"],"alias_name":null,"gene_symbol":"SCO1","hgnc_symbol":"SCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10583654-10601692","ensembl_id":"ENSG00000133028"}},"GRch38":{"90":{"location":"17:10672474-10698375","ensembl_id":"ENSG00000133028"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"SCO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["11013136","19295170","31352446","23878101"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":["EAAT1","GLAST","EA6"],"biotype":"protein_coding","hgnc_id":"HGNC:10941","gene_name":"solute carrier family 1 member 3","omim_gene":["600111"],"alias_name":["glutamate transporter variant EAAT1ex9skip"],"gene_symbol":"SLC1A3","hgnc_symbol":"SLC1A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:36606457-36688436","ensembl_id":"ENSG00000079215"}},"GRch38":{"90":{"location":"5:36606355-36688334","ensembl_id":"ENSG00000079215"}}},"hgnc_date_symbol_changed":"1994-02-15"},"entity_type":"gene","entity_name":"SLC1A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19139306","16116111","29208948","27829685","32741053"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Episodic ataxia, type 6, MIM# 612656"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","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":["H-PAST","HPAST1","FLJ42622","FLJ44618"],"biotype":"protein_coding","hgnc_id":"HGNC:3242","gene_name":"EH domain containing 1","omim_gene":["605888"],"alias_name":["testilin"],"gene_symbol":"EHD1","hgnc_symbol":"EHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64619114-64655768","ensembl_id":"ENSG00000110047"}},"GRch38":{"90":{"location":"11:64851642-64888296","ensembl_id":"ENSG00000110047"}}},"hgnc_date_symbol_changed":"1999-08-11"},"entity_type":"gene","entity_name":"EHD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35149593"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Inherited renal tubular disease, MONDO:0015962, EHD1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EAR-3","COUP-TFI","TCFCOUP1","SVP44"],"biotype":"protein_coding","hgnc_id":"HGNC:7975","gene_name":"nuclear receptor subfamily 2 group F member 1","omim_gene":["132890"],"alias_name":null,"gene_symbol":"NR2F1","hgnc_symbol":"NR2F1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:92919043-92930321","ensembl_id":"ENSG00000175745"}},"GRch38":{"90":{"location":"5:93583337-93594615","ensembl_id":"ENSG00000175745"}}},"hgnc_date_symbol_changed":"1995-03-21"},"entity_type":"gene","entity_name":"NR2F1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19353646","24462372"],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","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":["HGFR","RCCP2","DFNB97"],"biotype":"protein_coding","hgnc_id":"HGNC:7029","gene_name":"MET proto-oncogene, receptor tyrosine kinase","omim_gene":["164860"],"alias_name":["hepatocyte growth factor receptor"],"gene_symbol":"MET","hgnc_symbol":"MET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:116312444-116438440","ensembl_id":"ENSG00000105976"}},"GRch38":{"90":{"location":"7:116672390-116798386","ensembl_id":"ENSG00000105976"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MET","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["25941349","31801140"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal recessive 97, MIM#\t616705"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hyperornithinaemia-hyperammonaemia-homocitrullinaemia syndrome , MIM#238970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["STAT113"],"biotype":"protein_coding","hgnc_id":"HGNC:11363","gene_name":"signal transducer and activator of transcription 2","omim_gene":["600556"],"alias_name":null,"gene_symbol":"STAT2","hgnc_symbol":"STAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56735381-56753939","ensembl_id":"ENSG00000170581"}},"GRch38":{"90":{"location":"12:56341597-56360155","ensembl_id":"ENSG00000170581"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIRC7","OC-116","OC116","ATP6N1C","Atp6i","a3","ATP6V0A3"],"biotype":"protein_coding","hgnc_id":"HGNC:11647","gene_name":"T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3","omim_gene":["604592"],"alias_name":["T-cell immune response cDNA 7"],"gene_symbol":"TCIRG1","hgnc_symbol":"TCIRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67806483-67818362","ensembl_id":"ENSG00000110719"}},"GRch38":{"90":{"location":"11:68039016-68050895","ensembl_id":"ENSG00000110719"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"TCIRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["10888887","31938717","19507210","32048120"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteopetrosis, autosomal recessive 1 MIM#259700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZP564F0923","KIAA1471","HD-PTP"],"biotype":"protein_coding","hgnc_id":"HGNC:14406","gene_name":"protein tyrosine phosphatase, non-receptor type 23","omim_gene":["606584"],"alias_name":null,"gene_symbol":"PTPN23","hgnc_symbol":"PTPN23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:47422501-47454931","ensembl_id":"ENSG00000076201"}},"GRch38":{"90":{"location":"3:47381011-47413441","ensembl_id":"ENSG00000076201"}}},"hgnc_date_symbol_changed":"2001-02-15"},"entity_type":"gene","entity_name":"PTPN23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31395947"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Intellectual disability","brain abnormalities","seizures","optic atrophy","microcephaly"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:414","gene_name":"aldolase, fructose-bisphosphate A","omim_gene":["103850"],"alias_name":null,"gene_symbol":"ALDOA","hgnc_symbol":"ALDOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30064411-30081778","ensembl_id":"ENSG00000149925"}},"GRch38":{"90":{"location":"16:30053090-30070457","ensembl_id":"ENSG00000149925"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ALDOA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Glycogen storage disease XII, MIM#611881"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC125","bA22L21.1","My013","HRPAP20"],"biotype":"protein_coding","hgnc_id":"HGNC:21034","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 4","omim_gene":["611776"],"alias_name":null,"gene_symbol":"NDUFAF4","hgnc_symbol":"NDUFAF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:97337189-97345757","ensembl_id":"ENSG00000123545"}},"GRch38":{"90":{"location":"6:96889313-96897881","ensembl_id":"ENSG00000123545"}}},"hgnc_date_symbol_changed":"2009-03-18"},"entity_type":"gene","entity_name":"NDUFAF4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["18179882","28853723"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 15, MIM#618237"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["c-MAF"],"biotype":"protein_coding","hgnc_id":"HGNC:6776","gene_name":"MAF bZIP transcription factor","omim_gene":["177075"],"alias_name":null,"gene_symbol":"MAF","hgnc_symbol":"MAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:79619740-79634611","ensembl_id":"ENSG00000178573"}},"GRch38":{"90":{"location":"16:79585843-79600714","ensembl_id":"ENSG00000178573"}}},"hgnc_date_symbol_changed":"1991-08-01"},"entity_type":"gene","entity_name":"MAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30160832","34643041"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Ayme-Gripp syndrome (MIM#601088)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OK/SW-cl.56","MGC16435","M40","Tubb5"],"biotype":"protein_coding","hgnc_id":"HGNC:20778","gene_name":"tubulin beta class I","omim_gene":["191130"],"alias_name":["class I beta-tubulin","beta1-tubulin"],"gene_symbol":"TUBB","hgnc_symbol":"TUBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30687978-30693203","ensembl_id":"ENSG00000196230"}},"GRch38":{"90":{"location":"6:30720201-30725426","ensembl_id":"ENSG00000196230"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"TUBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23246003"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 6, MIM#615771"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1861","FLJ20097","DKFZp313I2429","VPS54L"],"biotype":"protein_coding","hgnc_id":"HGNC:25956","gene_name":"VPS50, EARP/GARPII complex subunit","omim_gene":["616465"],"alias_name":["syndetin"],"gene_symbol":"VPS50","hgnc_symbol":"VPS50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:92861653-92988338","ensembl_id":"ENSG00000004766"}},"GRch38":{"90":{"location":"7:93232340-93361121","ensembl_id":"ENSG00000004766"}}},"hgnc_date_symbol_changed":"2015-06-29"},"entity_type":"gene","entity_name":"VPS50","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["34037727","38876772"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis , MIM#619685","Neonatal cholestatic liver disease","Failure to thrive","Profound global developmental delay","Postnatal microcephaly","Seizures","Abnormality of the corpus callosum"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ICF45","FLJ11601","FLJ20546","IHG-1","hTHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:26053","gene_name":"tRNA-histidine guanylyltransferase 1 like","omim_gene":null,"alias_name":["interphase cytoplasmic foci protein 45","induced by high glucose-1"],"gene_symbol":"THG1L","hgnc_symbol":"THG1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:157158205-157168456","ensembl_id":"ENSG00000113272"}},"GRch38":{"90":{"location":"5:157731197-157741448","ensembl_id":"ENSG00000113272"}}},"hgnc_date_symbol_changed":"2006-09-01"},"entity_type":"gene","entity_name":"THG1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33682303"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 28 - 618800","Epilepsy","Intellectual Disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp686F2227","MGC26733"],"biotype":"protein_coding","hgnc_id":"HGNC:28385","gene_name":"von Willebrand factor A domain containing 3B","omim_gene":["614884"],"alias_name":null,"gene_symbol":"VWA3B","hgnc_symbol":"VWA3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:98703579-98929762","ensembl_id":"ENSG00000168658"}},"GRch38":{"90":{"location":"2:98087116-98313299","ensembl_id":"ENSG00000168658"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"VWA3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26157035","41673450","37772257"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 22 MIM#616948"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5383","gene_name":"isocitrate dehydrogenase (NADP(+)) 2, mitochondrial","omim_gene":["147650"],"alias_name":null,"gene_symbol":"IDH2","hgnc_symbol":"IDH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:90626277-90645736","ensembl_id":"ENSG00000182054"}},"GRch38":{"90":{"location":"15:90083045-90102504","ensembl_id":"ENSG00000182054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IDH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22057234","22057236","24049096"],"evidence":["Expert Review Green","NHS GMS","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["D-2-hydroxyglutaric aciduria 2 613657","Ollier disease/ Dyschondroplasia 166000","Maffucci syndrome 614569","Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12404","gene_name":"alpha tocopherol transfer protein","omim_gene":["600415"],"alias_name":null,"gene_symbol":"TTPA","hgnc_symbol":"TTPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:63961112-63998612","ensembl_id":"ENSG00000137561"}},"GRch38":{"90":{"location":"8:63048553-63086053","ensembl_id":"ENSG00000137561"}}},"hgnc_date_symbol_changed":"1993-07-06"},"entity_type":"gene","entity_name":"TTPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["NHS GMS","Expert Review Green","Expert list"],"phenotypes":["Ataxia with isolated vitamin E deficiency, MIM#\t277460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ25513","DKFZp547J199","IFITMD1","FICCA","DSPB3","PKC","EKD1"],"biotype":"protein_coding","hgnc_id":"HGNC:30500","gene_name":"proline rich transmembrane protein 2","omim_gene":["614386"],"alias_name":["interferon induced transmembrane protein domain containing 1"],"gene_symbol":"PRRT2","hgnc_symbol":"PRRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29823177-29827201","ensembl_id":"ENSG00000167371"}},"GRch38":{"90":{"location":"16:29811382-29815892","ensembl_id":"ENSG00000167371"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"PRRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26598494","31193310","30501978","30713971"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["PRRT2-associated paroxysmal movement disorder MONDO:0100556"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PDIB1"],"biotype":"protein_coding","hgnc_id":"HGNC:1512","gene_name":"calsequestrin 1","omim_gene":["114250"],"alias_name":["calsequestrin 1, fast-twitch, skeletal muscle","calmitine"],"gene_symbol":"CASQ1","hgnc_symbol":"CASQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160160285-160171676","ensembl_id":"ENSG00000143318"}},"GRch38":{"90":{"location":"1:160190556-160201886","ensembl_id":"ENSG00000143318"}}},"hgnc_date_symbol_changed":"1990-08-23"},"entity_type":"gene","entity_name":"CASQ1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Myopathy, vacuolar, with CASQ1 aggregates, MIM# 616231"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":302,"hash_id":null,"name":"Skeletal Muscle Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that encode skeletal muscle channel proteins, and associated with malignant hyperthermia and periodic paralysis (hyperkalemic, hypokalemic/thyrotoxic, normokalemic potassium-sensitive)/congenital myotonia. It is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Skeletal Muscle Channelopathy\" panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 20/8/20.","status":"public","version":"1.3","version_created":"2026-01-04T18:02:13.252564+11:00","relevant_disorders":["Periodic paralysis","HP:0003768; Myotonia","HP:0002486"],"stats":{"number_of_genes":13,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ43269"],"biotype":"protein_coding","hgnc_id":"HGNC:26970","gene_name":"COX20, cytochrome c oxidase assembly factor","omim_gene":["614698"],"alias_name":null,"gene_symbol":"COX20","hgnc_symbol":"COX20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:244998624-245008359","ensembl_id":"ENSG00000203667"}},"GRch38":{"90":{"location":"1:244835322-244845057","ensembl_id":"ENSG00000203667"}}},"hgnc_date_symbol_changed":"2012-02-24"},"entity_type":"gene","entity_name":"COX20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33751098"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["sensory neuronopathy","sensory neuron disease","ganglionopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820098","28708278"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["HSAN/SFN","Neuropathy, hereditary sensory, type IIC, 614213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VIAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:28860","gene_name":"phosducin like 3","omim_gene":["611678"],"alias_name":null,"gene_symbol":"PDCL3","hgnc_symbol":"PDCL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:101179152-101193197","ensembl_id":"ENSG00000115539"}},"GRch38":{"90":{"location":"2:100562690-100576735","ensembl_id":"ENSG00000115539"}}},"hgnc_date_symbol_changed":"2004-02-16"},"entity_type":"gene","entity_name":"PDCL3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32621347"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["megacystis-microcolon"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.26","version_created":"2026-03-26T19:32:59.997765+11:00","relevant_disorders":["Gastrointestinal dysmotility","HP:0002579"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMTX5","DFNX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9462","gene_name":"phosphoribosyl pyrophosphate synthetase 1","omim_gene":["311850"],"alias_name":["PRS I","ribose-phosphate diphosphokinase 1"],"gene_symbol":"PRPS1","hgnc_symbol":"PRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106871737-106894256","ensembl_id":"ENSG00000147224"}},"GRch38":{"90":{"location":"X:107628424-107651026","ensembl_id":"ENSG00000147224"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Arts syndrome, 301835 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SATT","ASCT1"],"biotype":"protein_coding","hgnc_id":"HGNC:10942","gene_name":"solute carrier family 1 member 4","omim_gene":["600229"],"alias_name":["alanine/serine/cysteine/threonine transporter"],"gene_symbol":"SLC1A4","hgnc_symbol":"SLC1A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:65215611-65250999","ensembl_id":"ENSG00000115902"}},"GRch38":{"90":{"location":"2:64988477-65023865","ensembl_id":"ENSG00000115902"}}},"hgnc_date_symbol_changed":"1993-12-16"},"entity_type":"gene","entity_name":"SLC1A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Math5","bHLHa13"],"biotype":"protein_coding","hgnc_id":"HGNC:13907","gene_name":"atonal bHLH transcription factor 7","omim_gene":["609875"],"alias_name":null,"gene_symbol":"ATOH7","hgnc_symbol":"ATOH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69990386-69991871","ensembl_id":"ENSG00000179774"}},"GRch38":{"90":{"location":"10:68230624-68232103","ensembl_id":"ENSG00000179774"}}},"hgnc_date_symbol_changed":"2002-07-05"},"entity_type":"gene","entity_name":"ATOH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LSH-B","CGB4","hLHB"],"biotype":"protein_coding","hgnc_id":"HGNC:6584","gene_name":"luteinizing hormone beta polypeptide","omim_gene":["152780"],"alias_name":["lutropin, beta chain","interstitial cell stimulating hormone, beta chain","luteinizing hormone beta subunit"],"gene_symbol":"LHB","hgnc_symbol":"LHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:49519237-49520338","ensembl_id":"ENSG00000104826"}},"GRch38":{"90":{"location":"19:49015980-49017081","ensembl_id":"ENSG00000104826"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"LHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17761593","28092701","29476300","22723313","15602022"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 23 with or without anosmia (MIM#228300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CI-51K"],"biotype":"protein_coding","hgnc_id":"HGNC:7716","gene_name":"NADH:ubiquinone oxidoreductase core subunit V1","omim_gene":["161015"],"alias_name":["complex I 51kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial"],"gene_symbol":"NDUFV1","hgnc_symbol":"NDUFV1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67374323-67380006","ensembl_id":"ENSG00000167792"}},"GRch38":{"90":{"location":"11:67606852-67612535","ensembl_id":"ENSG00000167792"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"NDUFV1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 4, 618225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1074"],"biotype":"protein_coding","hgnc_id":"HGNC:29186","gene_name":"ankyrin repeat domain 26","omim_gene":["610855"],"alias_name":null,"gene_symbol":"ANKRD26","hgnc_symbol":"ANKRD26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27280843-27389421","ensembl_id":"ENSG00000107890"}},"GRch38":{"90":{"location":"10:26991914-27100498","ensembl_id":"ENSG00000107890"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ANKRD26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Thrombocytopenia 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["5'UTR"],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHAK2","FLJ22628"],"biotype":"protein_coding","hgnc_id":"HGNC:17995","gene_name":"transient receptor potential cation channel subfamily M member 6","omim_gene":["607009"],"alias_name":null,"gene_symbol":"TRPM6","hgnc_symbol":"TRPM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:77337411-77503010","ensembl_id":"ENSG00000119121"}},"GRch38":{"90":{"location":"9:74722495-74888094","ensembl_id":"ENSG00000119121"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23942199"],"evidence":["Expert Review Green"],"phenotypes":["Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DXS423E","KIAA0178","SB1.8","Smcb"],"biotype":"protein_coding","hgnc_id":"HGNC:11111","gene_name":"structural maintenance of chromosomes 1A","omim_gene":["300040"],"alias_name":null,"gene_symbol":"SMC1A","hgnc_symbol":"SMC1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53401070-53449677","ensembl_id":"ENSG00000072501"}},"GRch38":{"90":{"location":"X:53374149-53422728","ensembl_id":"ENSG00000072501"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cornelia de Lange syndrome 2 300590"],"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":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13335","ZFYVE7"],"biotype":"protein_coding","hgnc_id":"HGNC:14673","gene_name":"FYVE and coiled-coil domain containing 1","omim_gene":["607182"],"alias_name":null,"gene_symbol":"FYCO1","hgnc_symbol":"FYCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45959396-46037316","ensembl_id":"ENSG00000163820"}},"GRch38":{"90":{"location":"3:45917899-45995824","ensembl_id":"ENSG00000163820"}}},"hgnc_date_symbol_changed":"2001-03-06"},"entity_type":"gene","entity_name":"FYCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32355443"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cataract 18 (MIM#610019) AR"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5967","gene_name":"interleukin 11 receptor subunit alpha","omim_gene":["600939"],"alias_name":null,"gene_symbol":"IL11RA","hgnc_symbol":"IL11RA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34650699-34661889","ensembl_id":"ENSG00000137070"}},"GRch38":{"90":{"location":"9:34650702-34661892","ensembl_id":"ENSG00000137070"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"IL11RA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21741611","32277509","30811827","29926465","24498618"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Craniosynostosis and dental anomalies, MIM# 614188"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HP10122"],"biotype":"protein_coding","hgnc_id":"HGNC:18188","gene_name":"transmembrane and coiled-coil domains 1","omim_gene":["614123"],"alias_name":null,"gene_symbol":"TMCO1","hgnc_symbol":"TMCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:165696032-165796992","ensembl_id":"ENSG00000143183"}},"GRch38":{"90":{"location":"1:165724293-165827755","ensembl_id":"ENSG00000143183"}}},"hgnc_date_symbol_changed":"2005-07-13"},"entity_type":"gene","entity_name":"TMCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20018682","23320496","24194475","30556256","31102500"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10731"],"biotype":"protein_coding","hgnc_id":"HGNC:28127","gene_name":"REM2 and RAB like small GTPase 1","omim_gene":null,"alias_name":["Rem/Rab-Similar GTPase 1"],"gene_symbol":"RSG1","hgnc_symbol":"RSG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:16558195-16563657","ensembl_id":"ENSG00000132881"}},"GRch38":{"90":{"location":"1:16231700-16237162","ensembl_id":"ENSG00000132881"}}},"hgnc_date_symbol_changed":"2011-02-22"},"entity_type":"gene","entity_name":"RSG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40593758"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliopathy, MONDO:0005308, RSG1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1465"],"biotype":"protein_coding","hgnc_id":"HGNC:29286","gene_name":"immunoglobulin superfamily containing leucine rich repeat 2","omim_gene":["614179"],"alias_name":null,"gene_symbol":"ISLR2","hgnc_symbol":"ISLR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74392652-74430881","ensembl_id":"ENSG00000167178"}},"GRch38":{"90":{"location":"15:74100311-74138540","ensembl_id":"ENSG00000167178"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"ISLR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30483960"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Hydrocephalus","arthrogryposis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NYD-SP28","FLJ35732","FAP250","CFAP250","CILD27","DRC2"],"biotype":"protein_coding","hgnc_id":"HGNC:29937","gene_name":"coiled-coil domain containing 65","omim_gene":["611088"],"alias_name":null,"gene_symbol":"CCDC65","hgnc_symbol":"CCDC65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49297893-49325623","ensembl_id":"ENSG00000139537"}},"GRch38":{"90":{"location":"12:48904110-48931840","ensembl_id":"ENSG00000139537"}}},"hgnc_date_symbol_changed":"2006-01-26"},"entity_type":"gene","entity_name":"CCDC65","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30166424","23991085","24094744"],"evidence":["Expert Review Red","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 27, MIM# 615504"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CG1","F18"],"biotype":"protein_coding","hgnc_id":"HGNC:2568","gene_name":"mastermind like domain containing 1","omim_gene":["300120"],"alias_name":null,"gene_symbol":"MAMLD1","hgnc_symbol":"MAMLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:149529689-149682448","ensembl_id":"ENSG00000013619"}},"GRch38":{"90":{"location":"X:150361422-150514178","ensembl_id":"ENSG00000013619"}}},"hgnc_date_symbol_changed":"2008-01-03"},"entity_type":"gene","entity_name":"MAMLD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26815876","31555317","32690052"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypospadias 2 (MIM#300758)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LEMD7","Lem4"],"biotype":"protein_coding","hgnc_id":"HGNC:29101","gene_name":"ankyrin repeat and LEM domain containing 2","omim_gene":["616062"],"alias_name":["LEM domain containing 7"],"gene_symbol":"ANKLE2","hgnc_symbol":"ANKLE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:133302254-133338474","ensembl_id":"ENSG00000176915"}},"GRch38":{"90":{"location":"12:132725503-132761888","ensembl_id":"ENSG00000176915"}}},"hgnc_date_symbol_changed":"2008-03-25"},"entity_type":"gene","entity_name":"ANKLE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25259927","30214071","31735666"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly 16, primary, autosomal recessive, MIM# 616681"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BART"],"biotype":"protein_coding","hgnc_id":"HGNC:16512","gene_name":"barttin CLCNK type accessory beta subunit","omim_gene":["606412"],"alias_name":null,"gene_symbol":"BSND","hgnc_symbol":"BSND","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55464606-55476556","ensembl_id":"ENSG00000162399"}},"GRch38":{"90":{"location":"1:54998933-55010883","ensembl_id":"ENSG00000162399"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"BSND","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11687798","19646679","16572343"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bartter syndrome, type 4a, 602522 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434D0513","KIAA1864","PPP1R31","CILD5"],"biotype":"protein_coding","hgnc_id":"HGNC:19368","gene_name":"HYDIN, axonemal central pair apparatus protein","omim_gene":["610812"],"alias_name":["protein phosphatase 1, regulatory subunit 31"],"gene_symbol":"HYDIN","hgnc_symbol":"HYDIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70841281-71264625","ensembl_id":"ENSG00000157423"}},"GRch38":{"90":{"location":"16:70807378-71230722","ensembl_id":"ENSG00000157423"}}},"hgnc_date_symbol_changed":"2003-06-27"},"entity_type":"gene","entity_name":"HYDIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23022101","28441829","31116566"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 5, 608647 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["mer","RP38","c-Eyk","Tyro12"],"biotype":"protein_coding","hgnc_id":"HGNC:7027","gene_name":"MER proto-oncogene, tyrosine kinase","omim_gene":["604705"],"alias_name":null,"gene_symbol":"MERTK","hgnc_symbol":"MERTK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:112656056-112787138","ensembl_id":"ENSG00000153208"}},"GRch38":{"90":{"location":"2:111898479-112029561","ensembl_id":"ENSG00000153208"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"MERTK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11062461","17301963","20300561","22180149"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Retinitis pigmentosa 38, MIM#613862"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAB27","RAM","GS2","HsT18676"],"biotype":"protein_coding","hgnc_id":"HGNC:9766","gene_name":"RAB27A, member RAS oncogene family","omim_gene":["603868"],"alias_name":null,"gene_symbol":"RAB27A","hgnc_symbol":"RAB27A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:55495164-55611311","ensembl_id":"ENSG00000069974"}},"GRch38":{"90":{"location":"15:55202966-55319113","ensembl_id":"ENSG00000069974"}}},"hgnc_date_symbol_changed":"1996-11-15"},"entity_type":"gene","entity_name":"RAB27A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32374962","32107531"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Griscelli syndrome, type 2, MIM# 607624"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10257","gene_name":"receptor tyrosine kinase like orphan receptor 2","omim_gene":["602337"],"alias_name":null,"gene_symbol":"ROR2","hgnc_symbol":"ROR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:94325373-94712444","ensembl_id":"ENSG00000169071"}},"GRch38":{"90":{"location":"9:91563091-91950162","ensembl_id":"ENSG00000169071"}}},"hgnc_date_symbol_changed":"2000-02-29"},"entity_type":"gene","entity_name":"ROR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Robinow syndrome, autosomal recessive MIM# 268310"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PASG","SMARCA6","LSH","Nbla10143"],"biotype":"protein_coding","hgnc_id":"HGNC:4861","gene_name":"helicase, lymphoid specific","omim_gene":["603946"],"alias_name":["SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6","proliferation-associated SNF2-like protein"],"gene_symbol":"HELLS","hgnc_symbol":"HELLS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:96305547-96373662","ensembl_id":"ENSG00000119969"}},"GRch38":{"90":{"location":"10:94501434-94613905","ensembl_id":"ENSG00000119969"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"HELLS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PSA"],"biotype":"protein_coding","hgnc_id":"HGNC:19129","gene_name":"phosphoserine aminotransferase 1","omim_gene":["610936"],"alias_name":null,"gene_symbol":"PSAT1","hgnc_symbol":"PSAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:80912059-80945009","ensembl_id":"ENSG00000135069"}},"GRch38":{"90":{"location":"9:78297143-78330093","ensembl_id":"ENSG00000135069"}}},"hgnc_date_symbol_changed":"2003-05-19"},"entity_type":"gene","entity_name":"PSAT1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red","BeginNGS"],"phenotypes":["Phosphoserine aminotransferase deficiency , MIM#\t610992","Phosphoserine aminotransferase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0439","RSP5","NEDD4-2"],"biotype":"protein_coding","hgnc_id":"HGNC:7728","gene_name":"neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase","omim_gene":["606384"],"alias_name":null,"gene_symbol":"NEDD4L","hgnc_symbol":"NEDD4L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:55711599-56068772","ensembl_id":"ENSG00000049759"}},"GRch38":{"90":{"location":"18:58044367-58401540","ensembl_id":"ENSG00000049759"}}},"hgnc_date_symbol_changed":"2000-03-14"},"entity_type":"gene","entity_name":"NEDD4L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Epilepsy, photosensitive generalised"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FVIII","DXS1253E","HEMA"],"biotype":"protein_coding","hgnc_id":"HGNC:3546","gene_name":"coagulation factor VIII","omim_gene":["300841"],"alias_name":["Factor VIIIF8B","hemophilia A"],"gene_symbol":"F8","hgnc_symbol":"F8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154064063-154255215","ensembl_id":"ENSG00000185010"}},"GRch38":{"90":{"location":"X:154835788-155026940","ensembl_id":"ENSG00000185010"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2986011","3097553"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071","MONDO:0010602","Haemophilia A, MIM# 306700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSST","FLJ46880","FLJ45860","CI-20"],"biotype":"protein_coding","hgnc_id":"HGNC:7714","gene_name":"NADH:ubiquinone oxidoreductase core subunit S7","omim_gene":["601825"],"alias_name":["complex I 20kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"],"gene_symbol":"NDUFS7","hgnc_symbol":"NDUFS7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1383526-1395583","ensembl_id":"ENSG00000115286"}},"GRch38":{"90":{"location":"19:1383527-1395589","ensembl_id":"ENSG00000115286"}}},"hgnc_date_symbol_changed":"1996-07-26"},"entity_type":"gene","entity_name":"NDUFS7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17604671","17275378","10360771","22644603"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 3 MIM#618224"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNF205","CMS1D","CMS1E"],"biotype":"protein_coding","hgnc_id":"HGNC:9863","gene_name":"receptor associated protein of the synapse","omim_gene":["601592"],"alias_name":["rapsyn"],"gene_symbol":"RAPSN","hgnc_symbol":"RAPSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47459308-47470730","ensembl_id":"ENSG00000165917"}},"GRch38":{"90":{"location":"11:47437757-47449178","ensembl_id":"ENSG00000165917"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"RAPSN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17594401"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326","Fetal akinesia deformation sequence 2 MIM#618388"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RhoGAP5","p190-B","p190BRhoGAP"],"biotype":"protein_coding","hgnc_id":"HGNC:675","gene_name":"Rho GTPase activating protein 5","omim_gene":["602680"],"alias_name":null,"gene_symbol":"ARHGAP5","hgnc_symbol":"ARHGAP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:32545320-32628934","ensembl_id":"ENSG00000100852"}},"GRch38":{"90":{"location":"14:32076114-32159728","ensembl_id":"ENSG00000100852"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"ARHGAP5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["39308770","36178483"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Kallmann syndrome MONDO:0018800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.115","version_created":"2026-04-12T14:11:38.693654+10:00","relevant_disorders":[],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P450SCC"],"biotype":"protein_coding","hgnc_id":"HGNC:2590","gene_name":"cytochrome P450 family 11 subfamily A member 1","omim_gene":["118485"],"alias_name":["cholesterol monooxygenase (side-chain-cleaving)"],"gene_symbol":"CYP11A1","hgnc_symbol":"CYP11A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74630100-74660081","ensembl_id":"ENSG00000140459"}},"GRch38":{"90":{"location":"15:74337759-74367740","ensembl_id":"ENSG00000140459"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"CYP11A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12161514","16705068","18182448","28425981"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM# 613743"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HRIHFB2206","CTG-B45d","CTG-B43a"],"biotype":"protein_coding","hgnc_id":"HGNC:23194","gene_name":"THAP domain containing 11","omim_gene":["609119"],"alias_name":null,"gene_symbol":"THAP11","hgnc_symbol":"THAP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67876213-67878097","ensembl_id":"ENSG00000168286"}},"GRch38":{"90":{"location":"16:67842082-67844195","ensembl_id":"ENSG00000168286"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"str","entity_name":"THAP11_SCA51_CAG","confidence_level":"2","penetrance":null,"publications":["15368101","24677642","34165550","38113319","40459937","39651830","37148549"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Spinocerebellar ataxia 51 MONDO:0975800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"16","grch37_coordinates":[67876766,67876853],"grch38_coordinates":[67842863,67842950],"normal_repeats":39,"pathogenic_repeats":47,"tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"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":[]}}]}