{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=51","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=49","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6827","gene_name":"mannosidase alpha class 2C member 1","omim_gene":["154580"],"alias_name":null,"gene_symbol":"MAN2C1","hgnc_symbol":"MAN2C1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75648133-75660971","ensembl_id":"ENSG00000140400"}},"GRch38":{"90":{"location":"15:75355207-75368630","ensembl_id":"ENSG00000140400"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MAN2C1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35045343"],"evidence":["Expert Review Green","Research","Literature"],"phenotypes":["Congenital disorder of deglycosylation 2, MIM# 619775"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.","status":"public","version":"1.21","version_created":"2026-04-07T13:50:26.927276+10:00","relevant_disorders":["Abnormal anterior eye segment morphology","HP:0004328"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876"],"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). 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vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1122","gene_name":"biotinidase","omim_gene":["609019"],"alias_name":null,"gene_symbol":"BTD","hgnc_symbol":"BTD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:15642848-15687329","ensembl_id":"ENSG00000169814"}},"GRch38":{"90":{"location":"3:15601341-15645822","ensembl_id":"ENSG00000169814"}}},"hgnc_date_symbol_changed":"1994-03-30"},"entity_type":"gene","entity_name":"BTD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32734340","3399084"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Biotinidase deficiency, MIM# 253260"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":58,"hash_id":null,"name":"Brain Calcification","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Primary brain calcification disorders are characterised by abnormal deposits of calcium in blood vessels within the brain, particularly the basal ganglia. They typically present with movement disorders and psychiatric or behavioural problems. This panel also contains other multi-system conditions where brain calcification can occur as part of the phenotype.\r\n\r\nThis panel was developed and is maintained by VCGS.\r\n\r\nThe panel has been compared against the Genomics England PanelApp Intracerebral Calcifications panel V1.27 with all discrepancies resolved and reciprocal feedback provided to Genomics England.\r\n\r\nUpdated December 2025 following literature review.","status":"public","version":"2.6","version_created":"2026-01-08T18:01:53.861975+11:00","relevant_disorders":["Cerebral calcification","HP:0002514"],"stats":{"number_of_genes":96,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CP47","CP49","LIFL-L","phakinin"],"biotype":"protein_coding","hgnc_id":"HGNC:1041","gene_name":"beaded filament structural protein 2","omim_gene":["603212"],"alias_name":null,"gene_symbol":"BFSP2","hgnc_symbol":"BFSP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:133118839-133194066","ensembl_id":"ENSG00000170819"}},"GRch38":{"90":{"location":"3:133399995-133475222","ensembl_id":"ENSG00000170819"}}},"hgnc_date_symbol_changed":"1999-04-14"},"entity_type":"gene","entity_name":"BFSP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10729115","10739768","15570218","24654948","21836522"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 12, multiple types, MIM# 611597"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC39558"],"biotype":"protein_coding","hgnc_id":"HGNC:28596","gene_name":"beta-1,3-N-acetylgalactosaminyltransferase 2","omim_gene":["610194"],"alias_name":null,"gene_symbol":"B3GALNT2","hgnc_symbol":"B3GALNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235613238-235667781","ensembl_id":"ENSG00000162885"}},"GRch38":{"90":{"location":"1:235449923-235504481","ensembl_id":"ENSG00000162885"}}},"hgnc_date_symbol_changed":"2005-02-10"},"entity_type":"gene","entity_name":"B3GALNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 23453667","29791932"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":72,"hash_id":null,"name":"Cerebellar and Pontocerebellar Hypoplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the panels used by VCGS and RMH and is a consensus panel maintained by both.","status":"public","version":"1.100","version_created":"2026-04-02T11:42:58.167964+11:00","relevant_disorders":["Aplasia/hypoplasia of the cerebellum HP:0007360;Pontocerebellar atrophy HP:0006879"],"stats":{"number_of_genes":122,"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":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Developmental and epileptic encephalopathy 1, MIM#\t308350","Lissencephaly, X-linked 2, MIM#\t300215","Proud syndrome, MIM#\t300004"],"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":[]},{"gene_data":{"alias":["MCPH7"],"biotype":"protein_coding","hgnc_id":"HGNC:10879","gene_name":"STIL, centriolar assembly protein","omim_gene":["181590"],"alias_name":null,"gene_symbol":"STIL","hgnc_symbol":"STIL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:47715811-47779819","ensembl_id":"ENSG00000123473"}},"GRch38":{"90":{"location":"1:47250139-47314147","ensembl_id":"ENSG00000123473"}}},"hgnc_date_symbol_changed":"2005-11-29"},"entity_type":"gene","entity_name":"STIL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25218063"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 7, primary, autosomal recessive, MIM# 612703"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"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:9608","gene_name":"parathyroid hormone 1 receptor","omim_gene":["168468"],"alias_name":null,"gene_symbol":"PTH1R","hgnc_symbol":"PTH1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46919236-46945287","ensembl_id":"ENSG00000160801"}},"GRch38":{"90":{"location":"3:46877746-46903799","ensembl_id":"ENSG00000160801"}}},"hgnc_date_symbol_changed":"2008-11-18"},"entity_type":"gene","entity_name":"PTH1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["3975110","9268097","8723092"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["CHONDRODYSPLASIA, BLOMSTRAND TYPE","BOCD"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P138-TOX","P138(TOX)","THOX2","LNOX2"],"biotype":"protein_coding","hgnc_id":"HGNC:13273","gene_name":"dual oxidase 2","omim_gene":["606759"],"alias_name":["dual oxidase-like domains 2","nicotinamide adenine dinucleotide phosphate oxidase","flavoprotein NADPH oxidase","NADPH thyroid oxidase 2","NADH/NADPH thyroid oxidase p138-tox","NADPH oxidase/peroxidase DUOX2"],"gene_symbol":"DUOX2","hgnc_symbol":"DUOX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:45384848-45406542","ensembl_id":"ENSG00000140279"}},"GRch38":{"90":{"location":"15:45092650-45114344","ensembl_id":"ENSG00000140279"}}},"hgnc_date_symbol_changed":"2000-11-09"},"entity_type":"gene","entity_name":"DUOX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35429653","27373512","26301257","28683258"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inflammatory bowel disease, MONDO:0005265, DUOX2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15832","gene_name":"BSCL2, seipin lipid droplet biogenesis associated","omim_gene":["606158"],"alias_name":null,"gene_symbol":"BSCL2","hgnc_symbol":"BSCL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62457747-62477317","ensembl_id":"ENSG00000168000"}},"GRch38":{"90":{"location":"11:62690275-62709845","ensembl_id":"ENSG00000168000"}}},"hgnc_date_symbol_changed":"2001-07-02"},"entity_type":"gene","entity_name":"BSCL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11479539","15181077","15126564","23564749"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lipodystrophy, congenital generalized, type 2, MIM# 269700","MONDO:0010020","Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924","MONDO:0014402"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10349"],"biotype":"protein_coding","hgnc_id":"HGNC:25513","gene_name":"GPN-loop GTPase 2","omim_gene":null,"alias_name":null,"gene_symbol":"GPN2","hgnc_symbol":"GPN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27202624-27216788","ensembl_id":"ENSG00000142751"}},"GRch38":{"90":{"location":"1:26876133-26890297","ensembl_id":"ENSG00000142751"}}},"hgnc_date_symbol_changed":"2008-04-30"},"entity_type":"gene","entity_name":"GPN2","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Other"],"phenotypes":["complex neurodevelopmental disorder MONDO:0100038","Perrault syndrome"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0915","Vsm-RhoGEF","ARGEF15","FLJ13791","MGC44868"],"biotype":"protein_coding","hgnc_id":"HGNC:15590","gene_name":"Rho guanine nucleotide exchange factor 15","omim_gene":["608504"],"alias_name":["Rho guanine exchange factor (GEF) 15"],"gene_symbol":"ARHGEF15","hgnc_symbol":"ARHGEF15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8213559-8225829","ensembl_id":"ENSG00000198844"}},"GRch38":{"90":{"location":"17:8310241-8322516","ensembl_id":"ENSG00000198844"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"ARHGEF15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36929019"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brain small vessel disease 5 with osteoporosis, MIM# 621331"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MAPBPIP","MAPKSP1AP","p14","ENDAP","Ragulator2"],"biotype":"protein_coding","hgnc_id":"HGNC:29796","gene_name":"late endosomal/lysosomal adaptor, MAPK and MTOR activator 2","omim_gene":["610389"],"alias_name":["mitogen activated protein binding protein interacting protein","MAPKSP1 adaptor protein","endosomal adaptor protein"],"gene_symbol":"LAMTOR2","hgnc_symbol":"LAMTOR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156024543-156028301","ensembl_id":"ENSG00000116586"}},"GRch38":{"90":{"location":"1:156054752-156058510","ensembl_id":"ENSG00000116586"}}},"hgnc_date_symbol_changed":"2011-02-15"},"entity_type":"gene","entity_name":"LAMTOR2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["17195838","24092934"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DAP13","B17.2"],"biotype":"protein_coding","hgnc_id":"HGNC:23987","gene_name":"NADH:ubiquinone oxidoreductase subunit A12","omim_gene":["614530"],"alias_name":["complex I B17.2 subunit"],"gene_symbol":"NDUFA12","hgnc_symbol":"NDUFA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:95290831-95397546","ensembl_id":"ENSG00000184752"}},"GRch38":{"90":{"location":"12:94897055-95003770","ensembl_id":"ENSG00000184752"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"NDUFA12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21617257","33715266"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 23 618244"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKU-ALPHA","MGC44450"],"biotype":"protein_coding","hgnc_id":"HGNC:11842","gene_name":"tousled like kinase 2","omim_gene":["608439"],"alias_name":null,"gene_symbol":"TLK2","hgnc_symbol":"TLK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:60536019-60692842","ensembl_id":"ENSG00000146872"}},"GRch38":{"90":{"location":"17:62458658-62615481","ensembl_id":"ENSG00000146872"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"TLK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29861108","29942082","27479843","23911319","30559488","29942082","31558842"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual disability, MIM 618050","Neurodevelopmental disease"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GluA2","GLURB"],"biotype":"protein_coding","hgnc_id":"HGNC:4572","gene_name":"glutamate ionotropic receptor AMPA type subunit 2","omim_gene":["138247"],"alias_name":null,"gene_symbol":"GRIA2","hgnc_symbol":"GRIA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:158125334-158287227","ensembl_id":"ENSG00000120251"}},"GRch38":{"90":{"location":"4:157204182-157366075","ensembl_id":"ENSG00000120251"}}},"hgnc_date_symbol_changed":"1992-02-26"},"entity_type":"gene","entity_name":"GRIA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31300657"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","autism","Rett-like features","epileptic encephalopathy","Neurodevelopmental disorder with language impairment and behavioral abnormalities, MIM#\t618917"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["A1","PO-GA","RFC140","MHCBFB"],"biotype":"protein_coding","hgnc_id":"HGNC:9969","gene_name":"replication factor C subunit 1","omim_gene":["102579"],"alias_name":null,"gene_symbol":"RFC1","hgnc_symbol":"RFC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39289076-39367995","ensembl_id":"ENSG00000035928"}},"GRch38":{"90":{"location":"4:39287456-39366375","ensembl_id":"ENSG00000035928"}}},"hgnc_date_symbol_changed":"1994-10-14"},"entity_type":"gene","entity_name":"RFC1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":"Other","publications":["30926972","33103729","35883251","36478048","36289003"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["STR"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Hb2E"],"biotype":"protein_coding","hgnc_id":"HGNC:14944","gene_name":"protein phosphatase 1 regulatory subunit 3F","omim_gene":null,"alias_name":null,"gene_symbol":"PPP1R3F","hgnc_symbol":"PPP1R3F","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:49126306-49157929","ensembl_id":"ENSG00000049769"}},"GRch38":{"90":{"location":"X:49269843-49301461","ensembl_id":"ENSG00000049769"}}},"hgnc_date_symbol_changed":"2001-06-29"},"entity_type":"gene","entity_name":"PPP1R3F","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37531237"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MIWC"],"biotype":"protein_coding","hgnc_id":"HGNC:637","gene_name":"aquaporin 4","omim_gene":["600308"],"alias_name":null,"gene_symbol":"AQP4","hgnc_symbol":"AQP4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:24432002-24445782","ensembl_id":"ENSG00000171885"}},"GRch38":{"90":{"location":"18:26852038-26865818","ensembl_id":"ENSG00000171885"}}},"hgnc_date_symbol_changed":"1994-07-25"},"entity_type":"gene","entity_name":"AQP4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37143309"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HYPE","HIP13"],"biotype":"protein_coding","hgnc_id":"HGNC:18416","gene_name":"FIC domain containing","omim_gene":null,"alias_name":["huntingtin interacting protein 13","fic S-phase protein cell division homolog (E. coli)"],"gene_symbol":"FICD","hgnc_symbol":"FICD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:108908962-108919614","ensembl_id":"ENSG00000198855"}},"GRch38":{"90":{"location":"12:108515185-108525837","ensembl_id":"ENSG00000198855"}}},"hgnc_date_symbol_changed":"2007-12-04"},"entity_type":"gene","entity_name":"FICD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36136088"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 92, autosomal recessive, MIM#\t620911"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FZD11"],"biotype":"protein_coding","hgnc_id":"HGNC:11119","gene_name":"smoothened, frizzled class receptor","omim_gene":["601500"],"alias_name":["frizzled family member 11"],"gene_symbol":"SMO","hgnc_symbol":"SMO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128828713-128853386","ensembl_id":"ENSG00000128602"}},"GRch38":{"90":{"location":"7:129188872-129213545","ensembl_id":"ENSG00000128602"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"SMO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32413283"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, congenital heart disease, polydactyly, aganglionosis","Pallister-Hall-like syndrome\t, MIM#241800"],"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":[]},{"gene_data":{"alias":["MLTKalpha","MLTKbeta","ZAK","MLTK","MLK7","MRK"],"biotype":"protein_coding","hgnc_id":"HGNC:17797","gene_name":"mitogen-activated protein kinase kinase kinase 20","omim_gene":["609479"],"alias_name":["ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)","mixed lineage kinase 7"],"gene_symbol":"MAP3K20","hgnc_symbol":"MAP3K20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:173940163-174132738","ensembl_id":"ENSG00000091436"}},"GRch38":{"90":{"location":"2:173075435-173268010","ensembl_id":"ENSG00000091436"}}},"hgnc_date_symbol_changed":"2016-10-19"},"entity_type":"gene","entity_name":"MAP3K20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27816943"],"evidence":["Expert Review Green","Other","Royal Melbourne Hospital"],"phenotypes":["Centronuclear myopathy 6 with fiber-type disproportion (MIM#617760","MONDO:0054695)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12786","gene_name":"Wnt family member 7A","omim_gene":["601570"],"alias_name":["proto-oncogene Wnt7a protein"],"gene_symbol":"WNT7A","hgnc_symbol":"WNT7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:13857755-13921618","ensembl_id":"ENSG00000154764"}},"GRch38":{"90":{"location":"3:13816258-13880121","ensembl_id":"ENSG00000154764"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"WNT7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Santos syndrome, MIM# 613005","Fuhrmann syndrome 228930"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37126154","32508843"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Aicardi-Goutieres syndrome 7, MIM#615846"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0760","OAZ","Roaz","Ebfaz","Zfp104","NPHP14","JBTS19"],"biotype":"protein_coding","hgnc_id":"HGNC:16762","gene_name":"zinc finger protein 423","omim_gene":["604557"],"alias_name":["OLF-1/EBF associated zinc finger gene"," Smad- and Olf-interacting zinc finger protein","early B-cell factor associated zinc finger protein"],"gene_symbol":"ZNF423","hgnc_symbol":"ZNF423","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:49521435-49891830","ensembl_id":"ENSG00000102935"}},"GRch38":{"90":{"location":"16:49487524-49857919","ensembl_id":"ENSG00000102935"}}},"hgnc_date_symbol_changed":"2004-04-06"},"entity_type":"gene","entity_name":"ZNF423","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22863007"],"evidence":["Expert Review Amber","Expert Review","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Joubert syndrome 19, OMIM# 614844"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["iGNT","iGAT","iGnT","BETA3GNTI","B3GN-T1"],"biotype":"protein_coding","hgnc_id":"HGNC:15685","gene_name":"beta-1,4-glucuronyltransferase 1","omim_gene":["605517"],"alias_name":["N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"],"gene_symbol":"B4GAT1","hgnc_symbol":"B4GAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66112843-66115163","ensembl_id":"ENSG00000174684"}},"GRch38":{"90":{"location":"11:66345372-66347692","ensembl_id":"ENSG00000174684"}}},"hgnc_date_symbol_changed":"2014-12-17"},"entity_type":"gene","entity_name":"B4GAT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID 23877401, PMID: 23359570"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 MIM#615287"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11460","gene_name":"sulfite oxidase","omim_gene":["606887"],"alias_name":null,"gene_symbol":"SUOX","hgnc_symbol":"SUOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56390964-56400425","ensembl_id":"ENSG00000139531"}},"GRch38":{"90":{"location":"12:55997180-56006641","ensembl_id":"ENSG00000139531"}}},"hgnc_date_symbol_changed":"1997-03-21"},"entity_type":"gene","entity_name":"SUOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9428520","15952210","31127934"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Sulfite oxidase deficiency, MIM# 272300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BETA-4"],"biotype":"protein_coding","hgnc_id":"HGNC:572","gene_name":"adaptor related protein complex 4 beta 1 subunit","omim_gene":["607245"],"alias_name":["beta 4 subunit of AP-4","AP-4 complex subunit beta-1"],"gene_symbol":"AP4B1","hgnc_symbol":"AP4B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:114437370-114447823","ensembl_id":"ENSG00000134262"}},"GRch38":{"90":{"location":"1:113894748-113905201","ensembl_id":"ENSG00000134262"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21620353","22290197","24700674","24781758","32979048","32171285","32166732","31525725","31525725"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 47, autosomal recessive, MIM# 614066"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3519","gene_name":"EYA transcriptional coactivator and phosphatase 1","omim_gene":["601653"],"alias_name":null,"gene_symbol":"EYA1","hgnc_symbol":"EYA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:72109668-72274467","ensembl_id":"ENSG00000104313"}},"GRch38":{"90":{"location":"8:71197433-71362232","ensembl_id":"ENSG00000104313"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"EYA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Branchiootic syndrome 1, MIM# 602588"],"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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7594","gene_name":"myosin XVA","omim_gene":["602666"],"alias_name":null,"gene_symbol":"MYO15A","hgnc_symbol":"MYO15A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:18012020-18083116","ensembl_id":"ENSG00000091536"}},"GRch38":{"90":{"location":"17:18108706-18179802","ensembl_id":"ENSG00000091536"}}},"hgnc_date_symbol_changed":"1998-05-29"},"entity_type":"gene","entity_name":"MYO15A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27375115","26226137","23208854","19309289","9603735","10915760"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 3, MIM# 600316"],"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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["HNPP","GAS3","Sp110"],"biotype":"protein_coding","hgnc_id":"HGNC:9118","gene_name":"peripheral myelin protein 22","omim_gene":["601097"],"alias_name":null,"gene_symbol":"PMP22","hgnc_symbol":"PMP22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:15133095-15168643","ensembl_id":"ENSG00000109099"}},"GRch38":{"90":{"location":"17:15229777-15265326","ensembl_id":"ENSG00000109099"}}},"hgnc_date_symbol_changed":"1992-11-05"},"entity_type":"gene","entity_name":"PMP22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8355122","10330345","12578939"],"evidence":["Expert Review Green","Literature","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Charcot-Marie-Tooth disease, type 1E 118300"],"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":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["FOLT","RFC1"],"biotype":"protein_coding","hgnc_id":"HGNC:10937","gene_name":"solute carrier family 19 member 1","omim_gene":["600424"],"alias_name":["reduced folate carrier 1","Folate transporter 1"],"gene_symbol":"SLC19A1","hgnc_symbol":"SLC19A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:46913486-46964325","ensembl_id":"ENSG00000173638"}},"GRch38":{"90":{"location":"21:45493572-45544411","ensembl_id":"ENSG00000173638"}}},"hgnc_date_symbol_changed":"1995-05-01"},"entity_type":"gene","entity_name":"SLC19A1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36517554,36745868"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Combined immunodeficiency, SLC19A1-related MONDO:0015131"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6601","gene_name":"DNA ligase 4","omim_gene":["601837"],"alias_name":["polydeoxyribonucleotide synthase [ATP] 4","polynucleotide ligase","sealase","DNA repair enzyme","DNA joinase"],"gene_symbol":"LIG4","hgnc_symbol":"LIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:108859787-108870716","ensembl_id":"ENSG00000174405"}},"GRch38":{"90":{"location":"13:108207439-108218368","ensembl_id":"ENSG00000174405"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"LIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27717373","10911993"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["LIG4 syndrome MIM# 606593","T-/B- lymphocytopaenia","Normal NK, radiation sensitivity","Microcephaly","low B/C cells","low Ig","raised IgM","failure to thrive","bacterial/viral/fungal infections","hypogammaglobulinaemia","neurodevelopmental delay","microcephaly","pancytopaenia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CATCH22"],"biotype":"protein_coding","hgnc_id":"HGNC:11592","gene_name":"T-box 1","omim_gene":["602054"],"alias_name":null,"gene_symbol":"TBX1","hgnc_symbol":"TBX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19744226-19771116","ensembl_id":"ENSG00000184058"}},"GRch38":{"90":{"location":"22:19756703-19783593","ensembl_id":"ENSG00000184058"}}},"hgnc_date_symbol_changed":"1997-05-15"},"entity_type":"gene","entity_name":"TBX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301696","31830774","16684884"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["DiGeorge syndrome MIM# 188400","Velocardiofacial syndrome MIM# 192430","Decreased T cells","Hypoparathyroidism","Conotruncal cardiac malformation","velopalatal insufficiency","abnormal facies (cleft palate, prominent tubular nose etc)","intellectual disability","Immunodeficiency","thymic hypoplasia or aplasia with resultant T‐cell dysfunction","renal anomalies","autoimmunity"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1494","gene_name":"ALX homeobox 1","omim_gene":["601527"],"alias_name":null,"gene_symbol":"ALX1","hgnc_symbol":"ALX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:85673885-85695562","ensembl_id":"ENSG00000180318"}},"GRch38":{"90":{"location":"12:85280107-85301784","ensembl_id":"ENSG00000180318"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"ALX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20451171","27324866"],"evidence":["Expert Review Green","Expert Review Green","UKGTN","Radboud University Medical Center, Nijmegen","NHS GMS","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Frontonasal dysplasia 3 613456","Frontonasal dysplasia type 3 613456"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RNASE3L","Etohi2","HSA242976","RN3"],"biotype":"protein_coding","hgnc_id":"HGNC:17904","gene_name":"drosha ribonuclease III","omim_gene":["608828"],"alias_name":["drosha, ribonuclease type III","drosha, double-stranded RNA-specific endoribonuclease"],"gene_symbol":"DROSHA","hgnc_symbol":"DROSHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:31400604-31532303","ensembl_id":"ENSG00000113360"}},"GRch38":{"90":{"location":"5:31400497-31532196","ensembl_id":"ENSG00000113360"}}},"hgnc_date_symbol_changed":"2010-10-28"},"entity_type":"gene","entity_name":"DROSHA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39654947","35405010","29339534"],"evidence":["Literature","Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092","hereditary hemorrhagic telangiectasia MONDO:0019180","idiopathic spontaneous coronary artery dissection MONDO:0007385"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["non-coding gene"],"panel":{"id":260,"hash_id":null,"name":"Hereditary Haemorrhagic Telangiectasia","disease_group":"Vascular disorders","disease_sub_group":"","description":"This panel was developed for use in cases with a clinical diagnosis of hereditary haemorrhagic telangiectasia. It is maintained by Royal Melbourne Hospital. It is a consensus panel used by VCGS.","status":"public","version":"1.6","version_created":"2026-04-06T11:40:33.000186+10:00","relevant_disorders":["Telangiectasia","HP:0001009"],"stats":{"number_of_genes":7,"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":["gs114","KIAA0590"],"biotype":"protein_coding","hgnc_id":"HGNC:29077","gene_name":"intraflagellar transport 140","omim_gene":["614620"],"alias_name":null,"gene_symbol":"IFT140","hgnc_symbol":"IFT140","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1560428-1662111","ensembl_id":"ENSG00000187535"}},"GRch38":{"90":{"location":"16:1510427-1612110","ensembl_id":"ENSG00000187535"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT140","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26216056","26968735"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 80, MIM# 617781"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"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":["HUEL","ZNT9","GAC63"],"biotype":"protein_coding","hgnc_id":"HGNC:1329","gene_name":"solute carrier family 30 member 9","omim_gene":["604604"],"alias_name":["GRIP1-dependent nuclear receptor coactivator"],"gene_symbol":"SLC30A9","hgnc_symbol":"SLC30A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:41992489-42092474","ensembl_id":"ENSG00000014824"}},"GRch38":{"90":{"location":"4:41990472-42090457","ensembl_id":"ENSG00000014824"}}},"hgnc_date_symbol_changed":"2003-09-10"},"entity_type":"gene","entity_name":"SLC30A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37041080"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Birk-Landau-Perez syndrome\t(MIM#617595)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RYR","PPP1R137"],"biotype":"protein_coding","hgnc_id":"HGNC:10483","gene_name":"ryanodine receptor 1","omim_gene":["180901"],"alias_name":["protein phosphatase 1, regulatory subunit 137"],"gene_symbol":"RYR1","hgnc_symbol":"RYR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:38924339-39078204","ensembl_id":"ENSG00000196218"}},"GRch38":{"90":{"location":"19:38433699-38587564","ensembl_id":"ENSG00000196218"}}},"hgnc_date_symbol_changed":"1989-12-01"},"entity_type":"gene","entity_name":"RYR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Malignant hyperthermia"],"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":["CMPD4","FLJ32040","TMD","CMH9","LGMD2J","MYLK5"],"biotype":"protein_coding","hgnc_id":"HGNC:12403","gene_name":"titin","omim_gene":["188840"],"alias_name":null,"gene_symbol":"TTN","hgnc_symbol":"TTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179390716-179695529","ensembl_id":"ENSG00000155657"}},"GRch38":{"90":{"location":"2:178525989-178830802","ensembl_id":"ENSG00000155657"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"TTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["dilated cardiomyopathy","Distal myopathy","HMERF","Myofibrillar myopathy","Congenital myopathy","Muscular dystrophy, limb-girdle, type 2J, 608807","arthrogryposis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"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":["trnR"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7496","gene_name":"mitochondrially encoded tRNA arginine","omim_gene":["590005"],"alias_name":null,"gene_symbol":"MT-TR","hgnc_symbol":"MT-TR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10405-10469","ensembl_id":"ENSG00000210174"}},"GRch38":{"90":{"location":"MT:10405-10469","ensembl_id":"ENSG00000210174"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15286228","17588757","19809478","22781096"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["mitochondrial disease (MONDO:0044970), MT-TR-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32173","MGC16028"],"biotype":"protein_coding","hgnc_id":"HGNC:29669","gene_name":"intraflagellar transport 43","omim_gene":["614068"],"alias_name":null,"gene_symbol":"IFT43","hgnc_symbol":"IFT43","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76368479-76550928","ensembl_id":"ENSG00000119650"}},"GRch38":{"90":{"location":"14:75902136-76084585","ensembl_id":"ENSG00000119650"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"IFT43","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["21378380","29896747"],"evidence":["Expert Review Green","Expert Review Amber","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Cranioectodermal dysplasia 3 MIM#614099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["dJ858B16.2","PSDC"],"biotype":"protein_coding","hgnc_id":"HGNC:8999","gene_name":"phosphatidylserine decarboxylase","omim_gene":["612770"],"alias_name":null,"gene_symbol":"PISD","hgnc_symbol":"PISD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:32014477-32058418","ensembl_id":"ENSG00000241878"}},"GRch38":{"90":{"location":"22:31618491-31662432","ensembl_id":"ENSG00000241878"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"PISD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["31263216"],"evidence":["Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Liberfarb syndrome\tMIM#618889"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ACONM"],"biotype":"protein_coding","hgnc_id":"HGNC:118","gene_name":"aconitase 2","omim_gene":["100850"],"alias_name":["aconitate hydratase, mitochondrial","mitochondrial aconitase"],"gene_symbol":"ACO2","hgnc_symbol":"ACO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41865129-41924993","ensembl_id":"ENSG00000100412"}},"GRch38":{"90":{"location":"22:41469125-41528989","ensembl_id":"ENSG00000100412"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Infantile cerebellar-retinal degeneration, 614559 (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":["ATV","AT-V2","AT-V1"],"biotype":"protein_coding","hgnc_id":"HGNC:7652","gene_name":"nibrin","omim_gene":["602667"],"alias_name":null,"gene_symbol":"NBN","hgnc_symbol":"NBN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:90945564-91015456","ensembl_id":"ENSG00000104320"}},"GRch38":{"90":{"location":"8:89933336-90003228","ensembl_id":"ENSG00000104320"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"NBN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nijmegen breakage syndrome, 251260 (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":["KPPS2","PPKS2","DPI","DPII"],"biotype":"protein_coding","hgnc_id":"HGNC:3052","gene_name":"desmoplakin","omim_gene":["125647"],"alias_name":null,"gene_symbol":"DSP","hgnc_symbol":"DSP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:7541808-7586950","ensembl_id":"ENSG00000096696"}},"GRch38":{"90":{"location":"6:7541575-7586717","ensembl_id":"ENSG00000096696"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 8","Dilated cardiomyopathy with woolly hair and keratoderma"],"mode_of_inheritance":"BOTH monoallelic and 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Congenital disorder of glycosylation 1b"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC12435","1700010H15RiK","CILD16"],"biotype":"protein_coding","hgnc_id":"HGNC:23247","gene_name":"dynein axonemal light chain 1","omim_gene":["610062"],"alias_name":null,"gene_symbol":"DNAL1","hgnc_symbol":"DNAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74111578-74170435","ensembl_id":"ENSG00000119661"}},"GRch38":{"90":{"location":"14:73644875-73703732","ensembl_id":"ENSG00000119661"}}},"hgnc_date_symbol_changed":"2006-09-04"},"entity_type":"gene","entity_name":"DNAL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Primary ciliary dyskinesia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7436","gene_name":"methylenetetrahydrofolate reductase","omim_gene":["607093"],"alias_name":null,"gene_symbol":"MTHFR","hgnc_symbol":"MTHFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11845780-11866977","ensembl_id":"ENSG00000177000"}},"GRch38":{"90":{"location":"1:11785723-11806920","ensembl_id":"ENSG00000177000"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"MTHFR","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Homocystinuria due to MTHFR deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3662","gene_name":"fibrinogen beta chain","omim_gene":["134830"],"alias_name":null,"gene_symbol":"FGB","hgnc_symbol":"FGB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:155484108-155492238","ensembl_id":"ENSG00000171564"}},"GRch38":{"90":{"location":"4:154562956-154571086","ensembl_id":"ENSG00000171564"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FGB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Afibrinogenaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRG1","HsT18361"],"biotype":"protein_coding","hgnc_id":"HGNC:7001","gene_name":"Meis homeobox 2","omim_gene":["601740"],"alias_name":null,"gene_symbol":"MEIS2","hgnc_symbol":"MEIS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:37181406-37393504","ensembl_id":"ENSG00000134138"}},"GRch38":{"90":{"location":"15:36889204-37101299","ensembl_id":"ENSG00000134138"}}},"hgnc_date_symbol_changed":"1998-02-09"},"entity_type":"gene","entity_name":"MEIS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25712757","27225850","24678003"],"evidence":["Expert Review","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["intellectual disability","cardiac defects","Orofacial clefting","Cleft palate"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PCASP1"],"biotype":"protein_coding","hgnc_id":"HGNC:6819","gene_name":"MALT1 paracaspase","omim_gene":["604860"],"alias_name":["MALT1 protease","paracaspase 1"],"gene_symbol":"MALT1","hgnc_symbol":"MALT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56338618-56417371","ensembl_id":"ENSG00000172175"}},"GRch38":{"90":{"location":"18:58671386-58754477","ensembl_id":"ENSG00000172175"}}},"hgnc_date_symbol_changed":"1999-08-02"},"entity_type":"gene","entity_name":"MALT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0309","EAF1","SWR1","DOMO1"],"biotype":"protein_coding","hgnc_id":"HGNC:16974","gene_name":"Snf2 related CREBBP activator protein","omim_gene":["611421"],"alias_name":["Swi2/Snf2-related ATPase homolog (S. cerevisiae)","domino homolog 1 (Drosophila)"],"gene_symbol":"SRCAP","hgnc_symbol":"SRCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30709530-30755602","ensembl_id":"ENSG00000080603"}},"GRch38":{"90":{"location":"16:30698209-30741409","ensembl_id":"ENSG00000080603"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"SRCAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22265015","22965468","22965468"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Floating-Harbor syndrome, OMIM # 136140"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8783","gene_name":"phosphodiesterase 4D","omim_gene":["600129"],"alias_name":["phosphodiesterase E3 dunce homolog (Drosophila)"],"gene_symbol":"PDE4D","hgnc_symbol":"PDE4D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:58264865-59817947","ensembl_id":"ENSG00000113448"}},"GRch38":{"90":{"location":"5:58969038-60522120","ensembl_id":"ENSG00000113448"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"PDE4D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Acrodysostosis 2, with or without hormone resistance 614613"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5136","gene_name":"homeobox D13","omim_gene":["142989"],"alias_name":null,"gene_symbol":"HOXD13","hgnc_symbol":"HOXD13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176957619-176960666","ensembl_id":"ENSG00000128714"}},"GRch38":{"90":{"location":"2:176092891-176095938","ensembl_id":"ENSG00000128714"}}},"hgnc_date_symbol_changed":"1991-05-08"},"entity_type":"gene","entity_name":"HOXD13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Brachydactyly, type D MIM#113200","Brachydactyly, type E MIM#113300","Syndactyly, type V MIM#186300","Synpolydactyly 1 MIM#186000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSSALRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1774","gene_name":"cyclin dependent kinase 5","omim_gene":["123831"],"alias_name":null,"gene_symbol":"CDK5","hgnc_symbol":"CDK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:150750899-150755617","ensembl_id":"ENSG00000164885"}},"GRch38":{"90":{"location":"7:151053812-151058530","ensembl_id":"ENSG00000164885"}}},"hgnc_date_symbol_changed":"1993-07-28"},"entity_type":"gene","entity_name":"CDK5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25560765","32273484","32097629","28854363","7490100","40186457"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lissencephaly 7 with cerebellar hypoplasia  (MIM#616342)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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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":["KIAA0373","FLJ13615","3H11Ag","rd16","NPHP6","JBTS5","SLSN6","LCA10","MKS4","BBS14","CT87","POC3"],"biotype":"protein_coding","hgnc_id":"HGNC:29021","gene_name":"centrosomal protein 290","omim_gene":["610142"],"alias_name":["Joubert syndrome 5","nephrocystin-6","cancer/testis antigen 87","POC3 centriolar protein homolog (Chlamydomonas)","Meckel syndrome, type 4","Bardet-Biedl syndrome 14"],"gene_symbol":"CEP290","hgnc_symbol":"CEP290","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:88442793-88535993","ensembl_id":"ENSG00000198707"}},"GRch38":{"90":{"location":"12:88049014-88142216","ensembl_id":"ENSG00000198707"}}},"hgnc_date_symbol_changed":"2006-02-20"},"entity_type":"gene","entity_name":"CEP290","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Bardet-Biedl syndrome 14, MIM# 615991","Joubert syndrome 5 610188","Leber congenital amaurosis 10, MIM# 611755","Meckel syndrome 4, MIM# 611134","Senior-Loken syndrome 6, MIM# 610189"],"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":["CR","TC","CROM"],"biotype":"protein_coding","hgnc_id":"HGNC:2665","gene_name":"CD55 molecule (Cromer blood group)","omim_gene":["125240"],"alias_name":null,"gene_symbol":"CD55","hgnc_symbol":"CD55","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:207494853-207534311","ensembl_id":"ENSG00000196352"}},"GRch38":{"90":{"location":"1:207321508-207386804","ensembl_id":"ENSG00000196352"}}},"hgnc_date_symbol_changed":"2006-02-23"},"entity_type":"gene","entity_name":"CD55","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33398182"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300"],"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":["Kir2.1","IRK1","LQT7"],"biotype":"protein_coding","hgnc_id":"HGNC:6263","gene_name":"potassium voltage-gated channel subfamily J member 2","omim_gene":["600681"],"alias_name":null,"gene_symbol":"KCNJ2","hgnc_symbol":"KCNJ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:68164814-68176189","ensembl_id":"ENSG00000123700"}},"GRch38":{"90":{"location":"17:70168673-70180048","ensembl_id":"ENSG00000123700"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"KCNJ2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Andersen syndrome MIM#170390"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9071","gene_name":"plasminogen","omim_gene":["173350"],"alias_name":null,"gene_symbol":"PLG","hgnc_symbol":"PLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:161123270-161174347","ensembl_id":"ENSG00000122194"}},"GRch38":{"90":{"location":"6:160702238-160753315","ensembl_id":"ENSG00000122194"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29548426","28795768","10233898","9242524","29987869","21174000"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Plasminogen deficiency, type I, MIM# 217090"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","haematological"],"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; 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cblG"],"biotype":"protein_coding","hgnc_id":"HGNC:7468","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase","omim_gene":["156570"],"alias_name":null,"gene_symbol":"MTR","hgnc_symbol":"MTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236958610-237067281","ensembl_id":"ENSG00000116984"}},"GRch38":{"90":{"location":"1:236795281-236903981","ensembl_id":"ENSG00000116984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["8968735","27604308"],"evidence":["Expert Review Green","Literature","NHS GMS"],"phenotypes":["Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940","Organic aciduria"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GIP"],"biotype":"protein_coding","hgnc_id":"HGNC:4385","gene_name":"G protein subunit alpha i2","omim_gene":["139360"],"alias_name":["GTP-binding regulatory protein Gi alpha-2 chain"],"gene_symbol":"GNAI2","hgnc_symbol":"GNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50263724-50296787","ensembl_id":"ENSG00000114353"}},"GRch38":{"90":{"location":"3:50226292-50259355","ensembl_id":"ENSG00000114353"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","40926810","39298586"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, GNAI2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":"0.111","version_created":"2026-04-04T15:37:44.052003+11:00","relevant_disorders":[],"stats":{"number_of_genes":83,"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":[]}]}