{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=299","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=297","results":[{"gene_data":{"alias":["GRCC10","C10"],"biotype":"protein_coding","hgnc_id":"HGNC:29521","gene_name":"chromosome 12 open reading frame 57","omim_gene":["615140"],"alias_name":["gene rich cluster C10 gene"],"gene_symbol":"C12orf57","hgnc_symbol":"C12orf57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:7052141-7055166","ensembl_id":"ENSG00000111678"}},"GRch38":{"90":{"location":"12:6942978-6946003","ensembl_id":"ENSG00000111678"}}},"hgnc_date_symbol_changed":"2006-01-27"},"entity_type":"gene","entity_name":"C12orf57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Temtamy syndrome, MIM#218340"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["cPLA2-alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:9035","gene_name":"phospholipase A2 group IVA","omim_gene":["600522"],"alias_name":null,"gene_symbol":"PLA2G4A","hgnc_symbol":"PLA2G4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:186798085-186958113","ensembl_id":"ENSG00000116711"}},"GRch38":{"90":{"location":"1:186828953-186988981","ensembl_id":"ENSG00000116711"}}},"hgnc_date_symbol_changed":"1994-11-30"},"entity_type":"gene","entity_name":"PLA2G4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18451993","25102815","23268370"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM#\t618372"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood 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:19918","gene_name":"myogenesis regulating glycosidase (putative)","omim_gene":null,"alias_name":null,"gene_symbol":"KIAA1161","hgnc_symbol":"MYORG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34366668-34376851","ensembl_id":"ENSG00000164976"}},"GRch38":{"90":{"location":"9:34366670-34376853","ensembl_id":"ENSG00000164976"}}},"hgnc_date_symbol_changed":"2017-07-26"},"entity_type":"gene","entity_name":"KIAA1161","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30656188","30649222","30460687","29910000","31951047"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Basal ganglia calcification, idiopathic, 7, MIM#618317"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["new gene name"],"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":[]},{"gene_data":{"alias":["ADAR1"],"biotype":"protein_coding","hgnc_id":"HGNC:225","gene_name":"adenosine deaminase, RNA specific","omim_gene":["146920"],"alias_name":null,"gene_symbol":"ADAR","hgnc_symbol":"ADAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154554538-154600475","ensembl_id":"ENSG00000160710"}},"GRch38":{"90":{"location":"1:154582062-154627999","ensembl_id":"ENSG00000160710"}}},"hgnc_date_symbol_changed":"1995-12-12"},"entity_type":"gene","entity_name":"ADAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23001123","24262145","23001123","30692772"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aicardi-Goutieres syndrome 6, MIM#615010"],"mode_of_inheritance":"BOTH monoallelic and 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":["STL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2200","gene_name":"collagen type II alpha 1 chain","omim_gene":["120140"],"alias_name":null,"gene_symbol":"COL2A1","hgnc_symbol":"COL2A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48366748-48398269","ensembl_id":"ENSG00000139219"}},"GRch38":{"90":{"location":"12:47972965-48004486","ensembl_id":"ENSG00000139219"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"COL2A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Collagenopathy type 2 alpha 1, MONDO:0022800"],"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":["AGM1","DKFZP434B187","PAGM"],"biotype":"protein_coding","hgnc_id":"HGNC:8907","gene_name":"phosphoglucomutase 3","omim_gene":["172100"],"alias_name":["acetylglucosamine phosphomutase"],"gene_symbol":"PGM3","hgnc_symbol":"PGM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:83870869-83903655","ensembl_id":"ENSG00000013375"}},"GRch38":{"90":{"location":"6:83161150-83193936","ensembl_id":"ENSG00000013375"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30578875","31231132","33098103","30157810","28704707"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 23, MIM# 615816","PGM3-CDG, MONDO:0014353"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FHM2"],"biotype":"protein_coding","hgnc_id":"HGNC:800","gene_name":"ATPase Na+/K+ transporting subunit alpha 2","omim_gene":["182340"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-2","sodium pump subunit alpha-2","sodium-potassium ATPase catalytic subunit alpha-2"],"gene_symbol":"ATP1A2","hgnc_symbol":"ATP1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160085549-160113381","ensembl_id":"ENSG00000018625"}},"GRch38":{"90":{"location":"1:160115759-160143591","ensembl_id":"ENSG00000018625"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15174025","15286158","33126486","31766058","24097848"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alternating hemiplegia of childhood 1, MIM# 104290"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":74,"hash_id":null,"name":"Brain Channelopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nBrain channelopathies typically cause episodes of neurological dysfunction including a combination of ataxia, dystonia, abnormal extra movements, leg stiffness, weakness, headache and nausea.  The episodes can last a few minutes or hours. Some patients have a primary headache in the form of hemiplegic migraine.\r\n\r\nThe Alternating Hemiplegia_Hemiplegic Migraine, Paroxysmal Dyskinesia, Ataxia and Dystonia panels may be considered where the clinical presentation is less clearly indicative of a brain channelopathy.\r\n\r\nThis panel has been compared against the Genomics England 'Brain Channelopathy' panel with all discordances resolved and reciprocal feedback provided to Genomics England PanelApp, 20/8/20.","status":"public","version":"1.5","version_created":"2025-10-16T17:46:30.269069+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"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:24063","gene_name":"galactose mutarotase","omim_gene":["137030"],"alias_name":["aldose 1-epimerase","aldose mutarotase","galactomutarotase"],"gene_symbol":"GALM","hgnc_symbol":"GALM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38893052-38968379","ensembl_id":"ENSG00000143891"}},"GRch38":{"90":{"location":"2:38665910-38741237","ensembl_id":"ENSG00000143891"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"GALM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30451973","30910422"],"evidence":["Expert Review Green","Literature"],"phenotypes":["type IV galactosaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological 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panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SEC63L","PRO2507","ERdj2","DNAJC23"],"biotype":"protein_coding","hgnc_id":"HGNC:21082","gene_name":"SEC63 homolog, protein translocation regulator","omim_gene":["608648"],"alias_name":null,"gene_symbol":"SEC63","hgnc_symbol":"SEC63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:108188960-108279393","ensembl_id":"ENSG00000025796"}},"GRch38":{"90":{"location":"6:107867756-107958189","ensembl_id":"ENSG00000025796"}}},"hgnc_date_symbol_changed":"2003-05-15"},"entity_type":"gene","entity_name":"SEC63","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["15133510","19876928"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Polycystic liver disease 2 (MIM#617004)"],"mode_of_inheritance":"MONOALLELIC, autosomal 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OSTbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:29956","gene_name":"solute carrier family 51 beta subunit","omim_gene":["612085"],"alias_name":["organic solute transporter beta 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life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["L8"],"biotype":"protein_coding","hgnc_id":"HGNC:10368","gene_name":"ribosomal protein L8","omim_gene":["604177"],"alias_name":null,"gene_symbol":"RPL8","hgnc_symbol":"RPL8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:146015150-146017972","ensembl_id":"ENSG00000161016"}},"GRch38":{"90":{"location":"8:144789765-144792587","ensembl_id":"ENSG00000161016"}}},"hgnc_date_symbol_changed":"1994-05-16"},"entity_type":"gene","entity_name":"RPL8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25424902","34961992"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Diamond-Blackfan anemia MONDO:0015253"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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":"","publications":["23453667","33290285","29791932","29273094","28688748","28303321"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181","MONDO:0014071"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BGL","LAB300","LBA"],"biotype":"protein_coding","hgnc_id":"HGNC:1742","gene_name":"LPS responsive beige-like anchor protein","omim_gene":["606453"],"alias_name":null,"gene_symbol":"LRBA","hgnc_symbol":"LRBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:151185594-151936879","ensembl_id":"ENSG00000198589"}},"GRch38":{"90":{"location":"4:150264531-151015727","ensembl_id":"ENSG00000198589"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"LRBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD40L","TRAP","gp39","hCD40L","CD154"],"biotype":"protein_coding","hgnc_id":"HGNC:11935","gene_name":"CD40 ligand","omim_gene":["300386"],"alias_name":["CD40 antigen ligand","tumor necrosis factor (ligand) superfamily member 5","T-B cell-activating molecule","TNF-related activation protein","hyper-IgM syndrome"],"gene_symbol":"CD40LG","hgnc_symbol":"CD40LG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135730352-135742549","ensembl_id":"ENSG00000102245"}},"GRch38":{"90":{"location":"X:136648193-136660390","ensembl_id":"ENSG00000102245"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40LG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["L35A"],"biotype":"protein_coding","hgnc_id":"HGNC:10345","gene_name":"ribosomal protein L35a","omim_gene":["180468"],"alias_name":null,"gene_symbol":"RPL35A","hgnc_symbol":"RPL35A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:197676858-197683481","ensembl_id":"ENSG00000182899"}},"GRch38":{"90":{"location":"3:197949987-197956610","ensembl_id":"ENSG00000182899"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPL35A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18535205","32241839"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 5, MIM# 612528","MONDO:0012925"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["FLJ11046"],"biotype":"protein_coding","hgnc_id":"HGNC:25622","gene_name":"TBC1 domain family member 23","omim_gene":["617687"],"alias_name":null,"gene_symbol":"TBC1D23","hgnc_symbol":"TBC1D23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:99979844-100044095","ensembl_id":"ENSG00000036054"}},"GRch38":{"90":{"location":"3:100261000-100325251","ensembl_id":"ENSG00000036054"}}},"hgnc_date_symbol_changed":"2006-01-06"},"entity_type":"gene","entity_name":"TBC1D23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28823707","28823706"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 11, MIM# 617695"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["FLJ32203","RP58"],"biotype":"protein_coding","hgnc_id":"HGNC:26498","gene_name":"zinc finger protein 513","omim_gene":["613598"],"alias_name":null,"gene_symbol":"ZNF513","hgnc_symbol":"ZNF513","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27600098-27603657","ensembl_id":"ENSG00000163795"}},"GRch38":{"90":{"location":"2:27377231-27380790","ensembl_id":"ENSG00000163795"}}},"hgnc_date_symbol_changed":"2003-12-19"},"entity_type":"gene","entity_name":"ZNF513","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20797688"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Retinitis pigmentosa 58 MIM#613617"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15689440"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["CHILD syndrome (MMIM#308050)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["DKFZp761A0620","FLJ11413"],"biotype":"protein_coding","hgnc_id":"HGNC:19405","gene_name":"piggyBac transposable element derived 5","omim_gene":["616791"],"alias_name":null,"gene_symbol":"PGBD5","hgnc_symbol":"PGBD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:230457392-230561475","ensembl_id":"ENSG00000177614"}},"GRch38":{"90":{"location":"1:230314482-230426371","ensembl_id":"ENSG00000177614"}}},"hgnc_date_symbol_changed":"2002-10-23"},"entity_type":"gene","entity_name":"PGBD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41533792"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, hypotonia, and variable spasticity, MIM#\t621482"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4862","gene_name":"NCK associated protein 1 like","omim_gene":["141180"],"alias_name":null,"gene_symbol":"NCKAP1L","hgnc_symbol":"NCKAP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:54891495-54937726","ensembl_id":"ENSG00000123338"}},"GRch38":{"90":{"location":"12:54497711-54548238","ensembl_id":"ENSG00000123338"}}},"hgnc_date_symbol_changed":"2005-10-11"},"entity_type":"gene","entity_name":"NCKAP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32647003"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency","Immune dysregulation","Immunodeficiency 72 with autoinflammation, MIM# 618982"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["Alix","AIP1","Hp95"],"biotype":"protein_coding","hgnc_id":"HGNC:8766","gene_name":"programmed cell death 6 interacting protein","omim_gene":["608074"],"alias_name":["ALG-2 interacting protein X"],"gene_symbol":"PDCD6IP","hgnc_symbol":"PDCD6IP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33839844-33911194","ensembl_id":"ENSG00000170248"}},"GRch38":{"90":{"location":"3:33798352-33869707","ensembl_id":"ENSG00000170248"}}},"hgnc_date_symbol_changed":"1999-12-10"},"entity_type":"gene","entity_name":"PDCD6IP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32286682"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly 29, primary, autosomal recessive, MIM# 620047","Microcephaly","intellectual disability"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["H36-1","FHR1","CFHL","H36-2"],"biotype":"protein_coding","hgnc_id":"HGNC:4888","gene_name":"complement factor H related 1","omim_gene":["134371"],"alias_name":null,"gene_symbol":"CFHR1","hgnc_symbol":"CFHR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196788887-196801319","ensembl_id":"ENSG00000244414"}},"GRch38":{"90":{"location":"1:196819757-196832189","ensembl_id":"ENSG00000244414"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32424742"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["p180"],"biotype":"protein_coding","hgnc_id":"HGNC:9173","gene_name":"DNA polymerase alpha 1, catalytic subunit","omim_gene":["312040"],"alias_name":null,"gene_symbol":"POLA1","hgnc_symbol":"POLA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:24712036-25015103","ensembl_id":"ENSG00000101868"}},"GRch38":{"90":{"location":"X:24693919-24996986","ensembl_id":"ENSG00000101868"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"POLA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27019227","31006512"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pigmentary disorder, reticulate, with systemic manifestations, X-linked, MIM# 301220","Van Esch-O'Driscoll syndrome OMIM# 301030"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["deep intronic"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["eIF3-theta","eIF3-p170","KIAA0139","eIF3a","TIF32"],"biotype":"protein_coding","hgnc_id":"HGNC:3271","gene_name":"eukaryotic translation initiation factor 3 subunit A","omim_gene":["602039"],"alias_name":null,"gene_symbol":"EIF3A","hgnc_symbol":"EIF3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:120794356-120840316","ensembl_id":"ENSG00000107581"}},"GRch38":{"90":{"location":"10:119033670-119080823","ensembl_id":"ENSG00000107581"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41033306"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease (MONDO:0002254), EIF3A-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["KIAA0905","ABP125","ABP130"],"biotype":"protein_coding","hgnc_id":"HGNC:17052","gene_name":"SEC31 homolog A, COPII coat complex component","omim_gene":["610257"],"alias_name":null,"gene_symbol":"SEC31A","hgnc_symbol":"SEC31A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:83739814-83822319","ensembl_id":"ENSG00000138674"}},"GRch38":{"90":{"location":"4:82818661-82901166","ensembl_id":"ENSG00000138674"}}},"hgnc_date_symbol_changed":"2006-09-07"},"entity_type":"gene","entity_name":"SEC31A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30464055","40508110","39725565"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Halperin-Birk syndrome, MIM# 618651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":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":["HCAP","BAM","SMC3L1","bamacan"],"biotype":"protein_coding","hgnc_id":"HGNC:2468","gene_name":"structural maintenance of chromosomes 3","omim_gene":["606062"],"alias_name":["bamacan proteoglycan"],"gene_symbol":"SMC3","hgnc_symbol":"SMC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:112327449-112364394","ensembl_id":"ENSG00000108055"}},"GRch38":{"90":{"location":"10:110567691-110604636","ensembl_id":"ENSG00000108055"}}},"hgnc_date_symbol_changed":"2006-07-06"},"entity_type":"gene","entity_name":"SMC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cornelia de Lange syndrome 3, MIM#\t610759"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["GAT1","GABATR","GABATHG"],"biotype":"protein_coding","hgnc_id":"HGNC:11042","gene_name":"solute carrier family 6 member 1","omim_gene":["137165"],"alias_name":["GABA transporter 1"],"gene_symbol":"SLC6A1","hgnc_symbol":"SLC6A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:11034410-11080933","ensembl_id":"ENSG00000157103"}},"GRch38":{"90":{"location":"3:10992724-11039247","ensembl_id":"ENSG00000157103"}}},"hgnc_date_symbol_changed":"1994-02-16"},"entity_type":"gene","entity_name":"SLC6A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34028503"],"evidence":["Expert Review Green"],"phenotypes":["Myoclonic-atonic epilepsy MONDO:0014633"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":145,"hash_id":null,"name":"Neurotransmitter Defects","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"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":["PDIA1","PROHB","DSI","GIT","PDI","PO4HB","P4Hbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:8548","gene_name":"prolyl 4-hydroxylase subunit beta","omim_gene":["176790"],"alias_name":["protein disulfide isomerase-associated 1","protein disulfide isomerase family A, member 1","collagen prolyl 4-hydroxylase beta"],"gene_symbol":"P4HB","hgnc_symbol":"P4HB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79801035-79818570","ensembl_id":"ENSG00000185624"}},"GRch38":{"90":{"location":"17:81843159-81860694","ensembl_id":"ENSG00000185624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"P4HB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30063094","29263160","25683117","29384951"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cole-Carpenter syndrome 1, MIM#112240"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XPCC","RAD4"],"biotype":"protein_coding","hgnc_id":"HGNC:12816","gene_name":"XPC complex subunit, DNA damage recognition and repair factor","omim_gene":["613208"],"alias_name":["xeroderma pigmentosum group C protein"],"gene_symbol":"XPC","hgnc_symbol":"XPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:14186647-14220283","ensembl_id":"ENSG00000154767"}},"GRch38":{"90":{"location":"3:14145147-14178783","ensembl_id":"ENSG00000154767"}}},"hgnc_date_symbol_changed":"1992-10-05"},"entity_type":"gene","entity_name":"XPC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6294","gene_name":"potassium voltage-gated channel subfamily Q member 1","omim_gene":["607542"],"alias_name":["Jervell and Lange-Nielsen syndrome 1"],"gene_symbol":"KCNQ1","hgnc_symbol":"KCNQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2465914-2870339","ensembl_id":"ENSG00000053918"}},"GRch38":{"90":{"location":"11:2444684-2849109","ensembl_id":"ENSG00000053918"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"KCNQ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34557911"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short QT syndrome 1","bradycardia","atrial fibrillation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":174,"hash_id":null,"name":"Short QT syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.7","version_created":"2023-07-25T17:54:13.214709+10:00","relevant_disorders":["Shortened QT interval","HP:0012232"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-40"],"biotype":"protein_coding","hgnc_id":"HGNC:24272","gene_name":"SID1 transmembrane family member 2","omim_gene":["617551"],"alias_name":null,"gene_symbol":"SIDT2","hgnc_symbol":"SIDT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:117049449-117068160","ensembl_id":"ENSG00000149577"}},"GRch38":{"90":{"location":"11:117178733-117197445","ensembl_id":"ENSG00000149577"}}},"hgnc_date_symbol_changed":"2004-08-20"},"entity_type":"gene","entity_name":"SIDT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40541391"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Lysosomal storage disease, MONDO:0002561, SIDT2-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"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:18525","gene_name":"cystin 1","omim_gene":null,"alias_name":null,"gene_symbol":"CYS1","hgnc_symbol":"CYS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:10196907-10221071","ensembl_id":"ENSG00000205795"}},"GRch38":{"90":{"location":"2:10056780-10080944","ensembl_id":"ENSG00000205795"}}},"hgnc_date_symbol_changed":"2002-04-26"},"entity_type":"gene","entity_name":"CYS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41720266","34521872"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polycystic kidney disease MONDO:0020642, CYS1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GDH"],"biotype":"protein_coding","hgnc_id":"HGNC:4335","gene_name":"glutamate dehydrogenase 1","omim_gene":["138130"],"alias_name":null,"gene_symbol":"GLUD1","hgnc_symbol":"GLUD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:88810243-88854623","ensembl_id":"ENSG00000148672"}},"GRch38":{"90":{"location":"10:87050486-87094866","ensembl_id":"ENSG00000148672"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GLUD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11214910","11297618"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hyperinsulinism-hyperammonemia syndrome, MIM# 606762"],"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":["HK33","D1S2223E","PMP1","PMPI","PXMP1"],"biotype":"protein_coding","hgnc_id":"HGNC:9713","gene_name":"peroxisomal biogenesis factor 19","omim_gene":["600279"],"alias_name":["housekeeping gene, 33kD"],"gene_symbol":"PEX19","hgnc_symbol":"PEX19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:160246602-160256138","ensembl_id":"ENSG00000162735"}},"GRch38":{"90":{"location":"1:160276812-160286348","ensembl_id":"ENSG00000162735"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"PEX19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10051604","20683989","11883941","28391327"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886"],"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. 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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":["HSS","FLJ11729","PKAN","HARP"],"biotype":"protein_coding","hgnc_id":"HGNC:15894","gene_name":"pantothenate kinase 2","omim_gene":["606157"],"alias_name":["Hallervorden-Spatz syndrome"],"gene_symbol":"PANK2","hgnc_symbol":"PANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:3869486-3907605","ensembl_id":"ENSG00000125779"}},"GRch38":{"90":{"location":"20:3888839-3929882","ensembl_id":"ENSG00000125779"}}},"hgnc_date_symbol_changed":"2002-09-06"},"entity_type":"gene","entity_name":"PANK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27303611","18462962"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodegeneration with brain iron accumulation 1 MIM#234200"],"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":["HTPK1","PP20"],"biotype":"protein_coding","hgnc_id":"HGNC:17358","gene_name":"thiamin pyrophosphokinase 1","omim_gene":["606370"],"alias_name":["placental protein 20","thiamine pyrophosphokinase 1","thiamine kinase","thiamine diphosphokinase"],"gene_symbol":"TPK1","hgnc_symbol":"TPK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:144149034-144533488","ensembl_id":"ENSG00000196511"}},"GRch38":{"90":{"location":"7:144451941-144836395","ensembl_id":"ENSG00000196511"}}},"hgnc_date_symbol_changed":"2001-12-13"},"entity_type":"gene","entity_name":"TPK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37622082"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11023","gene_name":"solute carrier family 35 member A3","omim_gene":["605632"],"alias_name":null,"gene_symbol":"SLC35A3","hgnc_symbol":"SLC35A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100435345-100492535","ensembl_id":"ENSG00000117620"}},"GRch38":{"90":{"location":"1:99969351-100035637","ensembl_id":"ENSG00000117620"}}},"hgnc_date_symbol_changed":"1999-10-05"},"entity_type":"gene","entity_name":"SLC35A3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28328131","24031089","28777481"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Arthrogryposis, mental retardation, and seizures","OMIM #615553"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RPML5","MRP-L5","MGC104174","PRED66","PRED22","C21orf92","L39mt","MSTP003","MGC3400","FLJ20451"],"biotype":"protein_coding","hgnc_id":"HGNC:14027","gene_name":"mitochondrial ribosomal protein L39","omim_gene":["611845"],"alias_name":null,"gene_symbol":"MRPL39","hgnc_symbol":"MRPL39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:26957968-26979829","ensembl_id":"ENSG00000154719"}},"GRch38":{"90":{"location":"21:25585656-25607517","ensembl_id":"ENSG00000154719"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"MRPL39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37133451"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BIGM103"],"biotype":"protein_coding","hgnc_id":"HGNC:20862","gene_name":"solute carrier family 39 member 8","omim_gene":["608732"],"alias_name":null,"gene_symbol":"SLC39A8","hgnc_symbol":"SLC39A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103172198-103352415","ensembl_id":"ENSG00000138821"}},"GRch38":{"90":{"location":"4:102251041-102431258","ensembl_id":"ENSG00000138821"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"SLC39A8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29453449","27995398"],"evidence":["Expert Review Amber","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIn\tMIM#616721"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ11838"],"biotype":"protein_coding","hgnc_id":"HGNC:25686","gene_name":"phosphopantothenoylcysteine synthetase","omim_gene":["609853"],"alias_name":null,"gene_symbol":"PPCS","hgnc_symbol":"PPCS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:42921788-42939056","ensembl_id":"ENSG00000127125"}},"GRch38":{"90":{"location":"1:42456117-42473385","ensembl_id":"ENSG00000127125"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"PPCS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29754768","35616428"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Cardiomyopathy, dilated, 2C, MIM# 618189"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Hs.6719","BCS","h-BCS","BJS"],"biotype":"protein_coding","hgnc_id":"HGNC:1020","gene_name":"BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone","omim_gene":["603647"],"alias_name":["GRACILE syndrome","Bjornstad syndrome"],"gene_symbol":"BCS1L","hgnc_symbol":"BCS1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219523487-219528166","ensembl_id":"ENSG00000074582"}},"GRch38":{"90":{"location":"2:218658764-218663443","ensembl_id":"ENSG00000074582"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"BCS1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26563427","24172246","17314340","9545407"],"evidence":["Expert Review Green","Literature","Royal Melbourne Hospital","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bjornstad syndrome, MIM# 262000","Leigh syndrome, MIM# 256000","BCS1L-related mitochondrial disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["POLE1"],"biotype":"protein_coding","hgnc_id":"HGNC:9177","gene_name":"DNA polymerase epsilon, catalytic subunit","omim_gene":["174762"],"alias_name":["DNA polymerase epsilon catalytic subunit A"],"gene_symbol":"POLE","hgnc_symbol":"POLE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:133200348-133263951","ensembl_id":"ENSG00000177084"}},"GRch38":{"90":{"location":"12:132623753-132687365","ensembl_id":"ENSG00000177084"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30503519","23230001","25948378"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["FILS syndrome, MIM# 615139","IMAGE-I syndrome, MIM# 618336"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic"],"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":["ADN"],"biotype":"protein_coding","hgnc_id":"HGNC:2771","gene_name":"complement factor D","omim_gene":["134350"],"alias_name":["adipsin"],"gene_symbol":"CFD","hgnc_symbol":"CFD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:859453-863453","ensembl_id":"ENSG00000197766"}},"GRch38":{"90":{"location":"19:859643-863630","ensembl_id":"ENSG00000197766"}}},"hgnc_date_symbol_changed":"2006-02-10"},"entity_type":"gene","entity_name":"CFD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"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":["MEGF2","HFMI1","FMI1","CDHF11","ADGRC3"],"biotype":"protein_coding","hgnc_id":"HGNC:3230","gene_name":"cadherin EGF LAG seven-pass G-type receptor 3","omim_gene":["604264"],"alias_name":["flamingo homolog 1 (Drosophila)","adhesion G protein-coupled receptor C3"],"gene_symbol":"CELSR3","hgnc_symbol":"CELSR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48673902-48700348","ensembl_id":"ENSG00000008300"}},"GRch38":{"90":{"location":"3:48636469-48662915","ensembl_id":"ENSG00000008300"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"CELSR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38429302"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO#0700092), CELSR3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp564K0322","3M3","PPP1R20"],"biotype":"protein_coding","hgnc_id":"HGNC:25367","gene_name":"coiled-coil domain containing 8","omim_gene":["614145"],"alias_name":["protein phosphatase 1, regulatory subunit 20"],"gene_symbol":"CCDC8","hgnc_symbol":"CCDC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:46913629-46916841","ensembl_id":"ENSG00000169515"}},"GRch38":{"90":{"location":"19:46410372-46413584","ensembl_id":"ENSG00000169515"}}},"hgnc_date_symbol_changed":"2004-02-11"},"entity_type":"gene","entity_name":"CCDC8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21737058"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["3-M syndrome 3, MIM#614205"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DDP","MTS"],"biotype":"protein_coding","hgnc_id":"HGNC:11817","gene_name":"translocase of inner mitochondrial membrane 8A","omim_gene":["300356"],"alias_name":null,"gene_symbol":"TIMM8A","hgnc_symbol":"TIMM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100600649-100604184","ensembl_id":"ENSG00000126953"}},"GRch38":{"90":{"location":"X:101345661-101349196","ensembl_id":"ENSG00000126953"}}},"hgnc_date_symbol_changed":"1999-12-01"},"entity_type":"gene","entity_name":"TIMM8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Mohr-Tranebjaerg syndrome","OMIM #304700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3342","gene_name":"engrailed homeobox 1","omim_gene":["131290"],"alias_name":null,"gene_symbol":"EN1","hgnc_symbol":"EN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:119599747-119605254","ensembl_id":"ENSG00000163064"}},"GRch38":{"90":{"location":"2:118842171-118847678","ensembl_id":"ENSG00000163064"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"EN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33568816"],"evidence":["Expert Review Green","Literature"],"phenotypes":["ENDOVE syndrome, limb-only type, MIM# 619217","ENDOVE syndrome, limb-brain type, MIM# 619218"],"mode_of_inheritance":"BIALLELIC, autosomal or 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Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11768","gene_name":"transforming growth factor beta 2","omim_gene":["190220"],"alias_name":["prepro-transforming growth factor beta-2"],"gene_symbol":"TGFB2","hgnc_symbol":"TGFB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:218519577-218617961","ensembl_id":"ENSG00000092969"}},"GRch38":{"90":{"location":"1:218346235-218444619","ensembl_id":"ENSG00000092969"}}},"hgnc_date_symbol_changed":"1989-05-10"},"entity_type":"gene","entity_name":"TGFB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39014191","40204055"],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University 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The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ND5","NAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:7461","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5","omim_gene":["516005"],"alias_name":["complex I ND5 subunit","NADH-ubiquinone oxidoreductase chain 5"],"gene_symbol":"MT-ND5","hgnc_symbol":"MT-ND5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12337-14148","ensembl_id":"ENSG00000198786"}},"GRch38":{"90":{"location":"MT:12337-14148","ensembl_id":"ENSG00000198786"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17400793","11938446","12624137","18495510","23918514","17535832","29506874","23034978","16816025","9299505","18977334"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND5-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":["CDC39","NOT1H","KIAA1007","AD-005"],"biotype":"protein_coding","hgnc_id":"HGNC:7877","gene_name":"CCR4-NOT transcription complex subunit 1","omim_gene":["604917"],"alias_name":null,"gene_symbol":"CNOT1","hgnc_symbol":"CNOT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:58553855-58663790","ensembl_id":"ENSG00000125107"}},"GRch38":{"90":{"location":"16:58519951-58629886","ensembl_id":"ENSG00000125107"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"CNOT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31006513"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11438","gene_name":"syntaxin 3","omim_gene":["600876"],"alias_name":null,"gene_symbol":"STX3","hgnc_symbol":"STX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:59480929-59573354","ensembl_id":"ENSG00000166900"}},"GRch38":{"90":{"location":"11:59713456-59805882","ensembl_id":"ENSG00000166900"}}},"hgnc_date_symbol_changed":"2006-04-25"},"entity_type":"gene","entity_name":"STX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24726755","29266534","25358429","29282386","30909251","29282386"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Retinal dystrophy and microvillus inclusion disease, MIM#619446"],"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":["FAE"],"biotype":"protein_coding","hgnc_id":"HGNC:3586","gene_name":"Fanconi anemia complementation group E","omim_gene":["613976"],"alias_name":null,"gene_symbol":"FANCE","hgnc_symbol":"FANCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35420138-35434880","ensembl_id":"ENSG00000112039"}},"GRch38":{"90":{"location":"6:35452361-35467103","ensembl_id":"ENSG00000112039"}}},"hgnc_date_symbol_changed":"1996-04-09"},"entity_type":"gene","entity_name":"FANCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group E, 600901 (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":["FLJ13096"],"biotype":"protein_coding","hgnc_id":"HGNC:25784","gene_name":"DDB1 and CUL4 associated factor 17","omim_gene":["612515"],"alias_name":["Woodhouse-Sakati syndrome"],"gene_symbol":"DCAF17","hgnc_symbol":"DCAF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:172290727-172341562","ensembl_id":"ENSG00000115827"}},"GRch38":{"90":{"location":"2:171434217-171485052","ensembl_id":"ENSG00000115827"}}},"hgnc_date_symbol_changed":"2009-07-17"},"entity_type":"gene","entity_name":"DCAF17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Woodhouse-Sakati syndrome, 241080 (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":["SCDO1"],"biotype":"protein_coding","hgnc_id":"HGNC:2909","gene_name":"delta like canonical Notch ligand 3","omim_gene":["602768"],"alias_name":null,"gene_symbol":"DLL3","hgnc_symbol":"DLL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39989535-39999121","ensembl_id":"ENSG00000090932"}},"GRch38":{"90":{"location":"19:39498895-39508481","ensembl_id":"ENSG00000090932"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"DLL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spondylocostal dysostosis 1, autosomal recessive, 277300 (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":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21031081"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Heterotopia, periventricular, 1 , MIM#300049","Melnick-Needles syndrome 30, MIM#9350"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MIM# 251000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MTPB"],"biotype":"protein_coding","hgnc_id":"HGNC:4803","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta","omim_gene":["143450"],"alias_name":["mitochondrial trifunctional protein, beta subunit"],"gene_symbol":"HADHB","hgnc_symbol":"HADHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26466038-26513336","ensembl_id":"ENSG00000138029"}},"GRch38":{"90":{"location":"2:26243170-26290468","ensembl_id":"ENSG00000138029"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27604308"],"evidence":["Expert Review Green","MetBioNet","London South GLH","NHS GMS"],"phenotypes":["Trifunctional protein deficiency 609015","Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation)","Mitochondrial Trifunctional Protein deficiency","Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism","HCM","Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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:12014","gene_name":"thiopurine S-methyltransferase","omim_gene":["187680"],"alias_name":null,"gene_symbol":"TPMT","hgnc_symbol":"TPMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:18128542-18155305","ensembl_id":"ENSG00000137364"}},"GRch38":{"90":{"location":"6:18128311-18155074","ensembl_id":"ENSG00000137364"}}},"hgnc_date_symbol_changed":"1993-08-25"},"entity_type":"gene","entity_name":"TPMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21270794","23422873","30447069"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Thiopurines, poor metabolism of, 1}, MIM#\t610460","Azathioprine","Mercaptopurine","Thioguanines"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3271,"hash_id":null,"name":"Pharmacogenomics_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is under development, to be used by the Australian Genomics Acute Care Flagship.","status":"public","version":"0.50","version_created":"2020-08-27T20:53:11.205850+10:00","relevant_disorders":[],"stats":{"number_of_genes":17,"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:22923","gene_name":"GDP-mannose pyrophosphorylase A","omim_gene":["615495"],"alias_name":null,"gene_symbol":"GMPPA","hgnc_symbol":"GMPPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220363589-220371710","ensembl_id":"ENSG00000144591"}},"GRch38":{"90":{"location":"2:219498867-219506989","ensembl_id":"ENSG00000144591"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"GMPPA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital disorder of glycosylation"],"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":["CLN10"],"biotype":"protein_coding","hgnc_id":"HGNC:2529","gene_name":"cathepsin D","omim_gene":["116840"],"alias_name":["ceroid-lipofuscinosis, neuronal 10"],"gene_symbol":"CTSD","hgnc_symbol":"CTSD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1773982-1785222","ensembl_id":"ENSG00000117984"}},"GRch38":{"90":{"location":"11:1752752-1764573","ensembl_id":"ENSG00000117984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CTSD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 10"],"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. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","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":["PROSC"],"biotype":"protein_coding","hgnc_id":"HGNC:9457","gene_name":"pyridoxal phosphate binding protein","omim_gene":["604436"],"alias_name":["proline synthetase co-transcribed (bacterial homolog)","proline synthetase cotranscribed homolog (bacterial)"],"gene_symbol":"PLPBP","hgnc_symbol":"PLPBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:37620111-37637283","ensembl_id":"ENSG00000147471"}},"GRch38":{"90":{"location":"8:37762593-37779767","ensembl_id":"ENSG00000147471"}}},"hgnc_date_symbol_changed":"2017-02-28"},"entity_type":"gene","entity_name":"PLPBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27912044","31741821","30668673"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Epilepsy, early-onset, vitamin B6-dependent, MIM# 617290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RX"],"biotype":"protein_coding","hgnc_id":"HGNC:18662","gene_name":"retina and anterior neural fold homeobox","omim_gene":["601881"],"alias_name":null,"gene_symbol":"RAX","hgnc_symbol":"RAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56934267-56941318","ensembl_id":"ENSG00000134438"}},"GRch38":{"90":{"location":"18:59267035-59274086","ensembl_id":"ENSG00000134438"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"RAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14662654","18783408","30811539","24033328","22524605","30762128"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia, isolated 3, MIM# 611038"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["C2H2-171","TAZ-1","RP58"],"biotype":"protein_coding","hgnc_id":"HGNC:13030","gene_name":"zinc finger and BTB domain containing 18","omim_gene":["608433"],"alias_name":null,"gene_symbol":"ZBTB18","hgnc_symbol":"ZBTB18","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:244214585-244220778","ensembl_id":"ENSG00000179456"}},"GRch38":{"90":{"location":"1:244048939-244057476","ensembl_id":"ENSG00000179456"}}},"hgnc_date_symbol_changed":"2013-01-09"},"entity_type":"gene","entity_name":"ZBTB18","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29573576"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mental retardation, autosomal dominant 22, MIM# 612337","Intellectual disability","microcephaly","corpus callosum abnormalities"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2979","gene_name":"DNA methyltransferase 3 beta","omim_gene":["602900"],"alias_name":null,"gene_symbol":"DNMT3B","hgnc_symbol":"DNMT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31350191-31397162","ensembl_id":"ENSG00000088305"}},"GRch38":{"90":{"location":"20:32762385-32809356","ensembl_id":"ENSG00000088305"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11837609","17893117","10647011","23486536"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0111","EIF4AIII","Fal1"],"biotype":"protein_coding","hgnc_id":"HGNC:18683","gene_name":"eukaryotic translation initiation factor 4A3","omim_gene":["608546"],"alias_name":null,"gene_symbol":"EIF4A3","hgnc_symbol":"EIF4A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78109013-78120982","ensembl_id":"ENSG00000141543"}},"GRch38":{"90":{"location":"17:80135214-80147183","ensembl_id":"ENSG00000141543"}}},"hgnc_date_symbol_changed":"2006-11-27"},"entity_type":"gene","entity_name":"EIF4A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360810"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Robin sequence with cleft mandible and limb anomalies, MIM# 268305","Richieri-Costa-Pereira syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["STR"],"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":["JCAP","SZP","MSF","HAPO","bG174L6.2","FLJ32635"],"biotype":"protein_coding","hgnc_id":"HGNC:9364","gene_name":"proteoglycan 4","omim_gene":["604283"],"alias_name":["lubricin","megakaryocyte stimulating factor","articular superficial zone protein","Jacobs camptodactyly-arthropathy-pericarditis syndrome","camptodactyly, arthropathy, coxa vara, pericarditis syndrome","bG174L6.2 (MSF: megakaryocyte stimulating factor )"],"gene_symbol":"PRG4","hgnc_symbol":"PRG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:186265405-186283694","ensembl_id":"ENSG00000116690"}},"GRch38":{"90":{"location":"1:186296279-186314562","ensembl_id":"ENSG00000116690"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"PRG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10545950","29397575"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGMD2N"],"biotype":"protein_coding","hgnc_id":"HGNC:19743","gene_name":"protein O-mannosyltransferase 2","omim_gene":["607439"],"alias_name":["Dolichyl-phosphate-mannose--protein mannosyltransferase"],"gene_symbol":"POMT2","hgnc_symbol":"POMT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77741299-77787227","ensembl_id":"ENSG00000009830"}},"GRch38":{"90":{"location":"14:77274956-77320884","ensembl_id":"ENSG00000009830"}}},"hgnc_date_symbol_changed":"2003-01-17"},"entity_type":"gene","entity_name":"POMT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15894594","17878207"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BUBR1","MAD3L","Bub1A","SSK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1149","gene_name":"BUB1 mitotic checkpoint serine/threonine kinase B","omim_gene":["602860"],"alias_name":null,"gene_symbol":"BUB1B","hgnc_symbol":"BUB1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40453224-40513337","ensembl_id":"ENSG00000156970"}},"GRch38":{"90":{"location":"15:40161023-40221136","ensembl_id":"ENSG00000156970"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"BUB1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18548531"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mosaic variegated aneuploidy syndrome 1, MIM# 257300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLVCR","MFSD7B","PCA"],"biotype":"protein_coding","hgnc_id":"HGNC:24682","gene_name":"feline leukemia virus subgroup C cellular receptor 1","omim_gene":["609144"],"alias_name":null,"gene_symbol":"FLVCR1","hgnc_symbol":"FLVCR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213031597-213072705","ensembl_id":"ENSG00000162769"}},"GRch38":{"90":{"location":"1:212858255-212899363","ensembl_id":"ENSG00000162769"}}},"hgnc_date_symbol_changed":"2007-05-01"},"entity_type":"gene","entity_name":"FLVCR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39306721"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ataxia, posterior column, with retinitis pigmentosa, 609033, Neurodevelopmental disorder MONDO:0700092, FLVCR1-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT2A","TATIP","BBS11"],"biotype":"protein_coding","hgnc_id":"HGNC:16380","gene_name":"tripartite motif containing 32","omim_gene":["602290"],"alias_name":null,"gene_symbol":"TRIM32","hgnc_symbol":"TRIM32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:119449581-119463579","ensembl_id":"ENSG00000119401"}},"GRch38":{"90":{"location":"9:116687302-116701300","ensembl_id":"ENSG00000119401"}}},"hgnc_date_symbol_changed":"2001-08-10"},"entity_type":"gene","entity_name":"TRIM32","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9634523","10399877","17994549","25351777","19492423, 19303295, 31309175"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MI","bHLHe32"],"biotype":"protein_coding","hgnc_id":"HGNC:7105","gene_name":"melanogenesis associated transcription factor","omim_gene":["156845"],"alias_name":["homolog of mouse microphthalmia"],"gene_symbol":"MITF","hgnc_symbol":"MITF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:69788586-70017488","ensembl_id":"ENSG00000187098"}},"GRch38":{"90":{"location":"3:69739435-69968337","ensembl_id":"ENSG00000187098"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"MITF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Waardenburg syndrome, type 2A, MIM# 193510","Deafness"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCS1","pac2"],"biotype":"protein_coding","hgnc_id":"HGNC:11582","gene_name":"tubulin folding cofactor E","omim_gene":["604934"],"alias_name":null,"gene_symbol":"TBCE","hgnc_symbol":"TBCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235530675-235612283","ensembl_id":"ENSG00000116957"}},"GRch38":{"90":{"location":"1:235367360-235448968","ensembl_id":"ENSG00000116957"}}},"hgnc_date_symbol_changed":"1998-07-31"},"entity_type":"gene","entity_name":"TBCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27666369"],"evidence":["Expert Review Green","Literature","Expert Review Green","Literature"],"phenotypes":["Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRO1557","PRO2086"],"biotype":"protein_coding","hgnc_id":"HGNC:11740","gene_name":"transferrin","omim_gene":["190000"],"alias_name":null,"gene_symbol":"TF","hgnc_symbol":"TF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:133464800-133497850","ensembl_id":"ENSG00000091513"}},"GRch38":{"90":{"location":"3:133745956-133779006","ensembl_id":"ENSG00000091513"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32028041"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Atransferrinaemia MIM#209300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; 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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":["EIF2Bdelta","EIF-2B","DKFZP586J0119","EIF2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3260","gene_name":"eukaryotic translation initiation factor 2B subunit delta","omim_gene":["606687"],"alias_name":null,"gene_symbol":"EIF2B4","hgnc_symbol":"EIF2B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:27587219-27593353","ensembl_id":"ENSG00000115211"}},"GRch38":{"90":{"location":"2:27364352-27370486","ensembl_id":"ENSG00000115211"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11835386","12707859","18263758","25843247","25761052","30014503","39139316"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ39417"],"biotype":"protein_coding","hgnc_id":"HGNC:2079","gene_name":"CLN8, transmembrane ER and ERGIC protein","omim_gene":["607837"],"alias_name":null,"gene_symbol":"CLN8","hgnc_symbol":"CLN8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:1703944-1734738","ensembl_id":"ENSG00000182372"}},"GRch38":{"90":{"location":"8:1755778-1801711","ensembl_id":"ENSG00000182372"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"CLN8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 8, MIM# 600143"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 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Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPG63"],"biotype":"protein_coding","hgnc_id":"HGNC:469","gene_name":"adenosine monophosphate deaminase 2","omim_gene":["102771"],"alias_name":["AMPD isoform L"],"gene_symbol":"AMPD2","hgnc_symbol":"AMPD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110158726-110174673","ensembl_id":"ENSG00000116337"}},"GRch38":{"90":{"location":"1:109616104-109632051","ensembl_id":"ENSG00000116337"}}},"hgnc_date_symbol_changed":"1990-03-06"},"entity_type":"gene","entity_name":"AMPD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27066553","23911318"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["pontocerebellar hypoplasia type 9 MONDO:0014351","Disorders of purine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit 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\r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3413-breast-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with breast cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.19","version_created":"2026-01-12T09:35:45.451588+11:00","relevant_disorders":[],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29915","gene_name":"nucleoporin 210 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reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MRP7","ABC35","TNR-CFTR","dJ760C5.1","CFTR/MRP"],"biotype":"protein_coding","hgnc_id":"HGNC:1884","gene_name":"cystic fibrosis transmembrane conductance regulator","omim_gene":["602421"],"alias_name":["ATP-binding cassette sub-family C, member 7"],"gene_symbol":"CFTR","hgnc_symbol":"CFTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:117105838-117356025","ensembl_id":"ENSG00000001626"}},"GRch38":{"90":{"location":"7:117465784-117715971","ensembl_id":"ENSG00000001626"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CFTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30214069","40169970","39592508","39356031"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital bilateral absence of vas deferens, MIM# 277180"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Dnahc6","HL-2","FLJ37357"],"biotype":"protein_coding","hgnc_id":"HGNC:2951","gene_name":"dynein axonemal heavy chain 6","omim_gene":["603336"],"alias_name":null,"gene_symbol":"DNAH6","hgnc_symbol":"DNAH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:84743579-85046713","ensembl_id":"ENSG00000115423"}},"GRch38":{"90":{"location":"2:84516455-84819589","ensembl_id":"ENSG00000115423"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37594300","39192248","37424858","31676830","29356036","40592014"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, DNAH6-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. 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Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4118","gene_name":"galactokinase 1","omim_gene":["604313"],"alias_name":null,"gene_symbol":"GALK1","hgnc_symbol":"GALK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73747675-73761792","ensembl_id":"ENSG00000108479"}},"GRch38":{"90":{"location":"17:75751594-75765711","ensembl_id":"ENSG00000108479"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GALK1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["32807972"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Galactokinase deficiency with cataracts MIM#230200"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4456,"hash_id":null,"name":"Genomic newborn screening: ICoNS","disease_group":"Screening","disease_sub_group":"","description":"UNDER CONSTRUCTION. DO NOT USE.","status":"public","version":"0.35","version_created":"2026-03-13T07:28:16.180055+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XT-I","PXYLT1"],"biotype":"protein_coding","hgnc_id":"HGNC:15516","gene_name":"xylosyltransferase 1","omim_gene":["608124"],"alias_name":["protein xylosyltransferase 1"],"gene_symbol":"XYLT1","hgnc_symbol":"XYLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:17195626-17564738","ensembl_id":"ENSG00000103489"}},"GRch38":{"90":{"location":"16:17101769-17470881","ensembl_id":"ENSG00000103489"}}},"hgnc_date_symbol_changed":"2001-04-06"},"entity_type":"str","entity_name":"XYLT1_DBQD2_GGC","confidence_level":"3","penetrance":null,"publications":["30554721"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Desbuquois dysplasia 2 MIM#615777"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","repeated_sequence":"GGC","chromosome":"16","grch37_coordinates":[17564765,17564779],"grch38_coordinates":[17470908,17470922],"normal_repeats":20,"pathogenic_repeats":120,"tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"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"}],"child_panel_ids":[]}},{"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":"str","entity_name":"ARX_EIEE1_GCN1","confidence_level":"3","penetrance":null,"publications":["11889467","33811808"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 1 MIM#308350","Intellectual disability, X-linked 29 and others MIM#300419","Partington syndrome MIM#309510"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","repeated_sequence":"GCN","chromosome":"X","grch37_coordinates":[25031767,25031814],"grch38_coordinates":[25013650,25013697],"normal_repeats":16,"pathogenic_repeats":23,"tags":["paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}},{"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":"str","entity_name":"TBX1_TOF_GCN","confidence_level":"3","penetrance":null,"publications":["19948535","11748311"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Tetralogy of Fallot MIM#187500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"22","grch37_coordinates":[19754285,19754330],"grch38_coordinates":[19766762,19766807],"normal_repeats":15,"pathogenic_repeats":25,"tags":["paediatric-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]}}]}