{"count":36124,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=132","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=130","results":[{"gene_data":{"alias":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["18853458"],"evidence":["Expert Review Amber","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spastic paraplegia 10, autosomal dominant MIM#604187"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAD","FAD1","BRCC2","XRCC11"],"biotype":"protein_coding","hgnc_id":"HGNC:1101","gene_name":"BRCA2, DNA repair associated","omim_gene":["600185"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 2"],"gene_symbol":"BRCA2","hgnc_symbol":"BRCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:32889611-32973805","ensembl_id":"ENSG00000139618"}},"GRch38":{"90":{"location":"13:32315474-32400266","ensembl_id":"ENSG00000139618"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"BRCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D1, MIM# 605724"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.145","version_created":"2026-04-29T13:45:06.770739+10:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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mitochondrial"],"gene_symbol":"PDHA1","hgnc_symbol":"PDHA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:19362011-19379823","ensembl_id":"ENSG00000131828"}},"GRch38":{"90":{"location":"X:19343893-19361705","ensembl_id":"ENSG00000131828"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"PDHA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["33461977"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Pyruvate dehydrogenase E1-alpha deficiency, MIM#\t312170"],"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":69,"hash_id":null,"name":"Congenital diaphragmatic hernia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with syndromic and non-syndromic congenital diaphragmatic hernia.\r\n\r\nNote pathogenic variants in a broad range of genes have been ascertained in CDH cohorts (e.g. PMID 33461977), so a broader testing approach is recommended particularly in the perinatal period.","status":"public","version":"1.18","version_created":"2025-11-21T16:59:26.431729+11:00","relevant_disorders":["Congenital diaphragmatic hernia HP:0000776"],"stats":{"number_of_genes":49,"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":["G-ALPHA-o"],"biotype":"protein_coding","hgnc_id":"HGNC:4389","gene_name":"G protein subunit alpha 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impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.412","version_created":"2026-04-29T13:55:13.542887+10:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4326","gene_name":"glycine receptor alpha 1","omim_gene":["138491"],"alias_name":["stiff person syndrome"],"gene_symbol":"GLRA1","hgnc_symbol":"GLRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:151202074-151304403","ensembl_id":"ENSG00000145888"}},"GRch38":{"90":{"location":"5:151822513-151924842","ensembl_id":"ENSG00000145888"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"GLRA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8298642","16832093"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 1, MIM# 149400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":["AF5Q31","MCEF"],"biotype":"protein_coding","hgnc_id":"HGNC:17869","gene_name":"AF4/FMR2 family member 4","omim_gene":["604417"],"alias_name":["ALL1 fused gene from 5q31"],"gene_symbol":"AFF4","hgnc_symbol":"AFF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:132211071-132299326","ensembl_id":"ENSG00000072364"}},"GRch38":{"90":{"location":"5:132875379-132963634","ensembl_id":"ENSG00000072364"}}},"hgnc_date_symbol_changed":"2005-06-27"},"entity_type":"gene","entity_name":"AFF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25730767","31058441"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["CHOPS syndrome, MIM#\t616368","ventricular septal defect","patent ductus arteriosus","patent foramen ovale"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT 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Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FIB1","KIAA1773","FLJ11790","CDHR6"],"biotype":"protein_coding","hgnc_id":"HGNC:13681","gene_name":"dachsous cadherin-related 1","omim_gene":["603057"],"alias_name":["cadherin-related family member 6"],"gene_symbol":"DCHS1","hgnc_symbol":"DCHS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6642556-6677085","ensembl_id":"ENSG00000166341"}},"GRch38":{"90":{"location":"11:6621323-6655854","ensembl_id":"ENSG00000166341"}}},"hgnc_date_symbol_changed":"2004-09-03"},"entity_type":"gene","entity_name":"DCHS1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Congenital heart disease, MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular 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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":"1.22","version_created":"2026-04-29T13:39:56.117604+10:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Mi-2b","Mi2-BETA"],"biotype":"protein_coding","hgnc_id":"HGNC:1919","gene_name":"chromodomain helicase DNA binding protein 4","omim_gene":["603277"],"alias_name":null,"gene_symbol":"CHD4","hgnc_symbol":"CHD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6679249-6716642","ensembl_id":"ENSG00000111642"}},"GRch38":{"90":{"location":"12:6570083-6607476","ensembl_id":"ENSG00000111642"}}},"hgnc_date_symbol_changed":"1998-03-20"},"entity_type":"gene","entity_name":"CHD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31388190","32881470"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Sifrim-Hitz-Weiss syndrome, MIM #617159"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.54","version_created":"2026-04-27T12:46:58.149374+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"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":["CEK3","TK14","TK25","ECT1","K-SAM","CD332"],"biotype":"protein_coding","hgnc_id":"HGNC:3689","gene_name":"fibroblast growth factor receptor 2","omim_gene":["176943"],"alias_name":["Crouzon syndrome","Pfeiffer syndrome"],"gene_symbol":"FGFR2","hgnc_symbol":"FGFR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:123237848-123357972","ensembl_id":"ENSG00000066468"}},"GRch38":{"90":{"location":"10:121478334-121598458","ensembl_id":"ENSG00000066468"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"FGFR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29848297","32879300"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410, Apert syndrome, MIM# 101200, Beare-Stevenson cutis gyrata syndrome, MIM# 123790, Bent bone dysplasia syndrome, MIM# 614592"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.54","version_created":"2026-04-27T12:46:58.149374+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936"],"evidence":["ClinGen","Expert Review Green"],"phenotypes":["Desmosterolosis, MONDO:0011217"],"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":["ARFL3"],"biotype":"protein_coding","hgnc_id":"HGNC:694","gene_name":"ADP ribosylation factor like GTPase 3","omim_gene":["604695"],"alias_name":null,"gene_symbol":"ARL3","hgnc_symbol":"ARL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104433488-104474164","ensembl_id":"ENSG00000138175"}},"GRch38":{"90":{"location":"10:102673731-102714407","ensembl_id":"ENSG00000138175"}}},"hgnc_date_symbol_changed":"1994-04-14"},"entity_type":"gene","entity_name":"ARL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269812","16565502"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 35 MIM#618161"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Munc13-4"],"biotype":"protein_coding","hgnc_id":"HGNC:23147","gene_name":"unc-13 homolog D","omim_gene":["608897"],"alias_name":null,"gene_symbol":"UNC13D","hgnc_symbol":"UNC13D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73823306-73840798","ensembl_id":"ENSG00000092929"}},"GRch38":{"90":{"location":"17:75827225-75844717","ensembl_id":"ENSG00000092929"}}},"hgnc_date_symbol_changed":"2003-10-16"},"entity_type":"gene","entity_name":"UNC13D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14622600","16825436","17993578"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACLP"],"biotype":"protein_coding","hgnc_id":"HGNC:303","gene_name":"AE binding protein 1","omim_gene":["602981"],"alias_name":["aortic carboxypeptidase-like protein","adipocyte enhancer binding protein 1"],"gene_symbol":"AEBP1","hgnc_symbol":"AEBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:44143960-44154161","ensembl_id":"ENSG00000106624"}},"GRch38":{"90":{"location":"7:44104361-44114562","ensembl_id":"ENSG00000106624"}}},"hgnc_date_symbol_changed":"1998-03-06"},"entity_type":"gene","entity_name":"AEBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29606302","30668708","30548383","30759870"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, classic-like, 2, MIM# 618000"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10606","gene_name":"sterol carrier protein 2","omim_gene":["184755"],"alias_name":null,"gene_symbol":"SCP2","hgnc_symbol":"SCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53392901-53517375","ensembl_id":"ENSG00000116171"}},"GRch38":{"90":{"location":"1:52927229-53051703","ensembl_id":"ENSG00000116171"}}},"hgnc_date_symbol_changed":"1991-07-24"},"entity_type":"gene","entity_name":"SCP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16685654","26497993","39941065"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724","Craniofacial microsomia, MONDO:0015397, SCP2-related"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DCT1","DMT1"],"biotype":"protein_coding","hgnc_id":"HGNC:10908","gene_name":"solute carrier family 11 member 2","omim_gene":["600523"],"alias_name":null,"gene_symbol":"SLC11A2","hgnc_symbol":"SLC11A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51373184-51422349","ensembl_id":"ENSG00000110911"}},"GRch38":{"90":{"location":"12:50979401-51028566","ensembl_id":"ENSG00000110911"}}},"hgnc_date_symbol_changed":"1995-12-19"},"entity_type":"gene","entity_name":"SLC11A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21871825","15459009"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anaemia, hypochromic microcytic, with iron overload 1 MIM#206100"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HRIHFB2122","KIAA1662","Tara","TAP68"],"biotype":"protein_coding","hgnc_id":"HGNC:17009","gene_name":"TRIO and F-actin binding protein","omim_gene":["609761"],"alias_name":null,"gene_symbol":"TRIOBP","hgnc_symbol":"TRIOBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38093011-38172563","ensembl_id":"ENSG00000100106"}},"GRch38":{"90":{"location":"22:37697004-37776556","ensembl_id":"ENSG00000100106"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"TRIOBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16385458","16385457","23226338","27014650","24853665","27344577","20510926"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 28, MIM# 609823"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12994"],"biotype":"protein_coding","hgnc_id":"HGNC:25777","gene_name":"regulatory factor X7","omim_gene":["612660"],"alias_name":null,"gene_symbol":"RFX7","hgnc_symbol":"RFX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:56379478-56535483","ensembl_id":"ENSG00000181827"}},"GRch38":{"90":{"location":"15:56087280-56243266","ensembl_id":"ENSG00000181827"}}},"hgnc_date_symbol_changed":"2008-08-04"},"entity_type":"gene","entity_name":"RFX7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33658631"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities, MIM# 620330"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ40240","dJ195P10.2"],"biotype":"protein_coding","hgnc_id":"HGNC:21185","gene_name":"PARN like, ribonuclease domain containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"PNLDC1","hgnc_symbol":"PNLDC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:160221298-160241736","ensembl_id":"ENSG00000146453"}},"GRch38":{"90":{"location":"6:159800249-159820704","ensembl_id":"ENSG00000146453"}}},"hgnc_date_symbol_changed":"2003-05-22"},"entity_type":"gene","entity_name":"PNLDC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34347949"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Spermatogenic failure 57, MIM#\t619528"],"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OSCP","ATPO"],"biotype":"protein_coding","hgnc_id":"HGNC:850","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit","omim_gene":["600828"],"alias_name":["oligomycin sensitivity conferring protein"],"gene_symbol":"ATP5O","hgnc_symbol":"ATP5O","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35275757-35288284","ensembl_id":"ENSG00000241837"}},"GRch38":{"90":{"location":"21:33903453-33915980","ensembl_id":"ENSG00000241837"}}},"hgnc_date_symbol_changed":"1995-04-12"},"entity_type":"gene","entity_name":"ATP5O","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["34954817","35621276"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hsa-mir-145","MIR-145"],"biotype":null,"hgnc_id":"HGNC:31532","gene_name":"microRNA 145","omim_gene":["611795"],"alias_name":null,"gene_symbol":"MIR145","hgnc_symbol":"MIR145","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"MIR145","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36649075"],"evidence":["Expert Review Red","Literature"],"phenotypes":["multisystemic smooth muscle dysfunction syndrome (MONDO:0013452), MIR145-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["non-coding gene"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MLTKalpha","MLTKbeta","ZAK","MLTK","MLK7","MRK"],"biotype":"protein_coding","hgnc_id":"HGNC:17797","gene_name":"mitogen-activated protein kinase kinase kinase 20","omim_gene":["609479"],"alias_name":["ZAK1 homolog, leucine zipper and sterile-alpha motif kinase (Dictyostelium)","mixed lineage kinase 7"],"gene_symbol":"MAP3K20","hgnc_symbol":"MAP3K20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:173940163-174132738","ensembl_id":"ENSG00000091436"}},"GRch38":{"90":{"location":"2:173075435-173268010","ensembl_id":"ENSG00000091436"}}},"hgnc_date_symbol_changed":"2016-10-19"},"entity_type":"gene","entity_name":"MAP3K20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26755636","32266845"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Split-foot malformation with mesoaxial polydactyly MIM#616890"],"mode_of_inheritance":"BIALLELIC, 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Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.780","version_created":"2026-04-30T15:03:16.542762+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2529,"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":["RAB3-GAP150","KIAA0839","DKFZP434D245","SPG69"],"biotype":"protein_coding","hgnc_id":"HGNC:17168","gene_name":"RAB3 GTPase activating non-catalytic protein subunit 2","omim_gene":["609275"],"alias_name":null,"gene_symbol":"RAB3GAP2","hgnc_symbol":"RAB3GAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220321635-220445796","ensembl_id":"ENSG00000118873"}},"GRch38":{"90":{"location":"1:220148293-220272454","ensembl_id":"ENSG00000118873"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23420520","20967465"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Martsolf syndrome 1\tMIM#212720"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.444","version_created":"2026-04-30T17:18:26.299482+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":639,"number_of_strs":4,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PNK"],"biotype":"protein_coding","hgnc_id":"HGNC:9154","gene_name":"polynucleotide kinase 3'-phosphatase","omim_gene":["605610"],"alias_name":null,"gene_symbol":"PNKP","hgnc_symbol":"PNKP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50364461-50371166","ensembl_id":"ENSG00000039650"}},"GRch38":{"90":{"location":"19:49859882-49878351","ensembl_id":"ENSG00000039650"}}},"hgnc_date_symbol_changed":"1999-12-22"},"entity_type":"gene","entity_name":"PNKP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31436889","31707899"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Microcephaly, seizures and developmental delay, 613402","Ataxia-oculomotor apraxia 4, 616267","Ataxia with oculomotor apraxia 4 (#616267)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"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":null},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16376511","22465082","28592010"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. 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":["FLJ16069","SPG66"],"biotype":"protein_coding","hgnc_id":"HGNC:32521","gene_name":"arylsulfatase family member I","omim_gene":["610009"],"alias_name":null,"gene_symbol":"ARSI","hgnc_symbol":"ARSI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149675906-149718870","ensembl_id":"ENSG00000183876"}},"GRch38":{"90":{"location":"5:150296343-150339307","ensembl_id":"ENSG00000183876"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"ARSI","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Childhood onset spastic paraplegia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. 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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2076","gene_name":"CLN5, intracellular trafficking protein","omim_gene":["608102"],"alias_name":null,"gene_symbol":"CLN5","hgnc_symbol":"CLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:77564795-77576652","ensembl_id":"ENSG00000102805"}},"GRch38":{"90":{"location":"13:76990660-77019143","ensembl_id":"ENSG00000102805"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"CLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20157158","41003830","39667065","22532218","32983231"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 5, MIM#256731"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"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":null},{"gene_data":{"alias":["PTS2R","RD"],"biotype":"protein_coding","hgnc_id":"HGNC:8860","gene_name":"peroxisomal biogenesis factor 7","omim_gene":["601757"],"alias_name":["Refsum disease"],"gene_symbol":"PEX7","hgnc_symbol":"PEX7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:137143717-137235075","ensembl_id":"ENSG00000112357"}},"GRch38":{"90":{"location":"6:136822564-136913937","ensembl_id":"ENSG00000112357"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301447","12325024"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Refsum disease","Phytanic acid storage disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1I","CSM1","CSM2"],"biotype":"protein_coding","hgnc_id":"HGNC:2770","gene_name":"desmin","omim_gene":["125660"],"alias_name":["intermediate filament protein"],"gene_symbol":"DES","hgnc_symbol":"DES","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220283099-220291461","ensembl_id":"ENSG00000175084"}},"GRch38":{"90":{"location":"2:219418377-219426739","ensembl_id":"ENSG00000175084"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"DES","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22395865, 20718792"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myofibrillar myopathy 1, MONDO:0011076"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10938","gene_name":"solute carrier family 19 member 2","omim_gene":["603941"],"alias_name":null,"gene_symbol":"SLC19A2","hgnc_symbol":"SLC19A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169433147-169455241","ensembl_id":"ENSG00000117479"}},"GRch38":{"90":{"location":"1:169463909-169486003","ensembl_id":"ENSG00000117479"}}},"hgnc_date_symbol_changed":"1999-04-09"},"entity_type":"gene","entity_name":"SLC19A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391221","14994241","22369132","35114785"],"evidence":["Expert Review Green","UKGTN"],"phenotypes":["thiamine-responsive megaloblastic anemia syndrome MONDO:0009575"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["IDD","MED","EDM3","FLJ90759","DJ885L7.4.1"],"biotype":"protein_coding","hgnc_id":"HGNC:2219","gene_name":"collagen type IX alpha 3 chain","omim_gene":["120270"],"alias_name":["collagen type IX proteoglycan"],"gene_symbol":"COL9A3","hgnc_symbol":"COL9A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:61447596-61472511","ensembl_id":"ENSG00000092758"}},"GRch38":{"90":{"location":"20:62816244-62841159","ensembl_id":"ENSG00000092758"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"COL9A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31090205","30450842","20301479","24273071","33633367"],"evidence":["Expert Review Green","Other","Other"],"phenotypes":["Stickler syndrome, type VI, MIM# 620022","Deafness, AD","Peripheral vitreoretinal degeneration and retinal detachment, AD"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3114,"hash_id":null,"name":"Stickler Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This is a consensus panel between VCGS and RMH.\r\n\r\nThis panel contains genes associated with Stickler syndrome, a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis.\r\n\r\nThe features of Stickler syndrome can be highly variable. Consider applying the Vitreoretinopathy, Deafness, Skeletal Dysplasia and Pierre Robin sequence panels if features are not entirely typical.","status":"public","version":"1.12","version_created":"2025-10-24T18:06:37.494562+11:00","relevant_disorders":["Myopia","HP:0000545; Retinal detachment","HP:0000541; Cleft palate","HP:0000175"],"stats":{"number_of_genes":10,"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:7448","gene_name":"myotubularin 1","omim_gene":["300415"],"alias_name":null,"gene_symbol":"MTM1","hgnc_symbol":"MTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:149737069-149841795","ensembl_id":"ENSG00000171100"}},"GRch38":{"90":{"location":"X:150568619-150673322","ensembl_id":"ENSG00000171100"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Myotubular myopathy, X-linked, 310400 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["UGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:24861","gene_name":"glucose-6-phosphatase catalytic subunit 3","omim_gene":["611045"],"alias_name":null,"gene_symbol":"G6PC3","hgnc_symbol":"G6PC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42148103-42153709","ensembl_id":"ENSG00000141349"}},"GRch38":{"90":{"location":"17:44070735-44076344","ensembl_id":"ENSG00000141349"}}},"hgnc_date_symbol_changed":"2004-03-29"},"entity_type":"gene","entity_name":"G6PC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dursun syndrome, 612541 (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":["CDHR15"],"biotype":"protein_coding","hgnc_id":"HGNC:14674","gene_name":"protocadherin related 15","omim_gene":["605514"],"alias_name":["cadherin-related family member 15"],"gene_symbol":"PCDH15","hgnc_symbol":"PCDH15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:55562531-57387702","ensembl_id":"ENSG00000150275"}},"GRch38":{"90":{"location":"10:53802771-55627942","ensembl_id":"ENSG00000150275"}}},"hgnc_date_symbol_changed":"2001-02-27"},"entity_type":"gene","entity_name":"PCDH15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Usher syndrome, type 1F, 602083 (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":["FLJ10716","CLLD7","CLLL7"],"biotype":"protein_coding","hgnc_id":"HGNC:18243","gene_name":"RCC1 and BTB domain containing protein 1","omim_gene":["607867"],"alias_name":null,"gene_symbol":"RCBTB1","hgnc_symbol":"RCBTB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:50106082-50159719","ensembl_id":"ENSG00000136144"}},"GRch38":{"90":{"location":"13:49531946-49585583","ensembl_id":"ENSG00000136144"}}},"hgnc_date_symbol_changed":"2003-05-02"},"entity_type":"gene","entity_name":"RCBTB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27486781"],"evidence":["Expert Review Red","Expert list","Expert list"],"phenotypes":["Retinal dystrophy with or without extraocular anomalies MIM#617175"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Atoh5","Math4B","ngn3","bHLHa7"],"biotype":"protein_coding","hgnc_id":"HGNC:13806","gene_name":"neurogenin 3","omim_gene":["604882"],"alias_name":null,"gene_symbol":"NEUROG3","hgnc_symbol":"NEUROG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71331454-71332994","ensembl_id":"ENSG00000122859"}},"GRch38":{"90":{"location":"10:69571698-69573238","ensembl_id":"ENSG00000122859"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"NEUROG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36149814","27533310"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Congenital malabsorptive diarrhea 4, MONDO:0012479","Hypogonadotropic hypogonadism, MONDO:0018555"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.226","version_created":"2026-04-23T15:35:12.037215+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":128,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BMD","DXS142","DXS164","DXS206","DXS230","DXS239","DXS268","DXS269","DXS270","DXS272"],"biotype":"protein_coding","hgnc_id":"HGNC:2928","gene_name":"dystrophin","omim_gene":["300377"],"alias_name":["muscular dystrophy, Duchenne and Becker types"],"gene_symbol":"DMD","hgnc_symbol":"DMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:31115794-33357558","ensembl_id":"ENSG00000198947"}},"GRch38":{"90":{"location":"X:31097677-33339441","ensembl_id":"ENSG00000198947"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"DMD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Duchenne muscular dystrophy, 310200","Cardiomyopathy, dilated, 3B","Dilated Cardiomyopathy, X-Linked","Becker muscular dystrophy, 300376"],"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":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":"0.231","version_created":"2026-04-28T11:37:58.412234+10:00","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":["CI-49"],"biotype":"protein_coding","hgnc_id":"HGNC:7708","gene_name":"NADH:ubiquinone oxidoreductase core subunit S2","omim_gene":["602985"],"alias_name":["complex I 49kDa subunit","NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"],"gene_symbol":"NDUFS2","hgnc_symbol":"NDUFS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161166894-161184185","ensembl_id":"ENSG00000158864"}},"GRch38":{"90":{"location":"1:161197104-161214395","ensembl_id":"ENSG00000158864"}}},"hgnc_date_symbol_changed":"1992-06-30"},"entity_type":"gene","entity_name":"NDUFS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 6, 618228"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.231","version_created":"2026-04-28T11:37:58.412234+10:00","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":["SCARMD1","LGMD2D","adhalin","DMDA2","A2"],"biotype":"protein_coding","hgnc_id":"HGNC:10805","gene_name":"sarcoglycan alpha","omim_gene":["600119"],"alias_name":["50kD DAG","adhalin","limb girdle muscular dystrophy 2D"],"gene_symbol":"SGCA","hgnc_symbol":"SGCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48241575-48253292","ensembl_id":"ENSG00000108823"}},"GRch38":{"90":{"location":"17:50164214-50175931","ensembl_id":"ENSG00000108823"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"SGCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2D"],"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":["JH","HFE2A","RGMC","HJV","hemojuvelin","haemojuvelin"],"biotype":"protein_coding","hgnc_id":"HGNC:4887","gene_name":"hemochromatosis type 2 (juvenile)","omim_gene":["608374"],"alias_name":["repulsive guidance molecule c"],"gene_symbol":"HFE2","hgnc_symbol":"HFE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145413095-145417545","ensembl_id":"ENSG00000168509"}},"GRch38":{"90":{"location":"1:146017468-146036746","ensembl_id":"ENSG00000168509"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"HFE2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Haemochromatosis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2213","gene_name":"collagen type VI alpha 3 chain","omim_gene":["120250"],"alias_name":null,"gene_symbol":"COL6A3","hgnc_symbol":"COL6A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:238232646-238323018","ensembl_id":"ENSG00000163359"}},"GRch38":{"90":{"location":"2:237324003-237414375","ensembl_id":"ENSG00000163359"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Ullrich congenital muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3179","gene_name":"endothelin receptor type A","omim_gene":["131243"],"alias_name":null,"gene_symbol":"EDNRA","hgnc_symbol":"EDNRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:148402069-148466106","ensembl_id":"ENSG00000151617"}},"GRch38":{"90":{"location":"4:147480917-147544954","ensembl_id":"ENSG00000151617"}}},"hgnc_date_symbol_changed":"1992-02-13"},"entity_type":"gene","entity_name":"EDNRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":["MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA","MFDA","Cleft palate"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HPE5"],"biotype":"protein_coding","hgnc_id":"HGNC:12873","gene_name":"Zic family member 2","omim_gene":["603073"],"alias_name":["Zinc finger protein of the cerebellum 2"],"gene_symbol":"ZIC2","hgnc_symbol":"ZIC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100634026-100639018","ensembl_id":"ENSG00000043355"}},"GRch38":{"90":{"location":"13:99981772-99986773","ensembl_id":"ENSG00000043355"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"ZIC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19955556"],"evidence":["Expert Review Green"],"phenotypes":["HOLOPROSENCEPHALY 5","HPE5"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCAD","MCADH","ACAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:89","gene_name":"acyl-CoA dehydrogenase medium chain","omim_gene":["607008"],"alias_name":["medium-chain acyl-CoA dehydrogenase"],"gene_symbol":"ACADM","hgnc_symbol":"ACADM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:76190036-76253260","ensembl_id":"ENSG00000117054"}},"GRch38":{"90":{"location":"1:75724347-75787575","ensembl_id":"ENSG00000117054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACADM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM#\t201450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["2019602"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Cerebrotendinous xanthomatosis\tMIM#213700","Disorders of bile acid biosynthesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"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":["ADTD"],"biotype":"protein_coding","hgnc_id":"HGNC:568","gene_name":"adaptor related protein complex 3 delta 1 subunit","omim_gene":["607246"],"alias_name":null,"gene_symbol":"AP3D1","hgnc_symbol":"AP3D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:2100988-2164464","ensembl_id":"ENSG00000065000"}},"GRch38":{"90":{"location":"19:2100988-2164465","ensembl_id":"ENSG00000065000"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP3D1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26744459","9697856","30472485"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service"],"phenotypes":["Hermansky-Pudlak syndrome 10, MIM# 617050","Oculocutaneous albinism","Severe neutropaenia","Recurrent infections","Seizures","Hearing loss","Neurodevelopmental delay"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0359","FLA8","KLP-11"],"biotype":"protein_coding","hgnc_id":"HGNC:6320","gene_name":"kinesin family member 3B","omim_gene":["603754"],"alias_name":null,"gene_symbol":"KIF3B","hgnc_symbol":"KIF3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:30865467-30922814","ensembl_id":"ENSG00000101350"}},"GRch38":{"90":{"location":"20:32277664-32335011","ensembl_id":"ENSG00000101350"}}},"hgnc_date_symbol_changed":"1999-07-06"},"entity_type":"gene","entity_name":"KIF3B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32386558","38665936"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Retinitis pigmentosa 89, MIM#618955","polydactyly"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["uvomorulin","CD324"],"biotype":"protein_coding","hgnc_id":"HGNC:1748","gene_name":"cadherin 1","omim_gene":["192090"],"alias_name":["E-Cadherin"],"gene_symbol":"CDH1","hgnc_symbol":"CDH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68771128-68869451","ensembl_id":"ENSG00000039068"}},"GRch38":{"90":{"location":"16:68737225-68835548","ensembl_id":"ENSG00000039068"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CDH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28301459"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Blepharocheilodontic syndrome 1, MIM# 119580"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ412I7.1","FLJ37974","RSPH6B","CILD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21558","gene_name":"radial spoke head 4 homolog A","omim_gene":["612647"],"alias_name":null,"gene_symbol":"RSPH4A","hgnc_symbol":"RSPH4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:116937642-116954148","ensembl_id":"ENSG00000111834"}},"GRch38":{"90":{"location":"6:116616479-116632985","ensembl_id":"ENSG00000111834"}}},"hgnc_date_symbol_changed":"2009-02-17"},"entity_type":"gene","entity_name":"RSPH4A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25789548"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Ciliary dyskinesia, primary 612649"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CRTR","CT1"],"biotype":"protein_coding","hgnc_id":"HGNC:11055","gene_name":"solute carrier family 6 member 8","omim_gene":["300036"],"alias_name":["creatine transporter"],"gene_symbol":"SLC6A8","hgnc_symbol":"SLC6A8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152953554-152962048","ensembl_id":"ENSG00000130821"}},"GRch38":{"90":{"location":"X:153688099-153696593","ensembl_id":"ENSG00000130821"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"SLC6A8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["11898126","16738945","16086185"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Cerebral creatine deficiency syndrome 1 (MIM#300352)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF925"],"biotype":"protein_coding","hgnc_id":"HGNC:32550","gene_name":"zinc finger and BTB domain containing 42","omim_gene":["613915"],"alias_name":null,"gene_symbol":"ZBTB42","hgnc_symbol":"ZBTB42","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105266933-105271049","ensembl_id":"ENSG00000179627"}},"GRch38":{"90":{"location":"14:104800596-104804712","ensembl_id":"ENSG00000179627"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"ZBTB42","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25055871"],"evidence":["Expert Review Amber","Literature","Expert list"],"phenotypes":["Lethal congenital contracture syndrome 6- #616248"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S28"],"biotype":"protein_coding","hgnc_id":"HGNC:10418","gene_name":"ribosomal protein S28","omim_gene":["603685"],"alias_name":["40S ribosomal protein S28"],"gene_symbol":"RPS28","hgnc_symbol":"RPS28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8386042-8388224","ensembl_id":"ENSG00000233927"}},"GRch38":{"90":{"location":"19:8321158-8323340","ensembl_id":"ENSG00000233927"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPS28","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24942156","40135709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["S1P","KIAA0091","SKI-1","PCSK8"],"biotype":"protein_coding","hgnc_id":"HGNC:15456","gene_name":"membrane bound transcription factor peptidase, site 1","omim_gene":["603355"],"alias_name":["subtilisin kexin isozyme 1","site-1 protease"],"gene_symbol":"MBTPS1","hgnc_symbol":"MBTPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:84087368-84150511","ensembl_id":"ENSG00000140943"}},"GRch38":{"90":{"location":"16:84053761-84116906","ensembl_id":"ENSG00000140943"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"MBTPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32857899","32420688","30046013"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Skeletal dysplasia, no OMIM #"],"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":"1.576","version_created":"2026-04-29T19:01:52.053429+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MDS1-EVI1","PRDM3","KMT8E"],"biotype":"protein_coding","hgnc_id":"HGNC:3498","gene_name":"MDS1 and EVI1 complex locus","omim_gene":["165215"],"alias_name":["PR domain 3"],"gene_symbol":"MECOM","hgnc_symbol":"MECOM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:168801287-169381406","ensembl_id":"ENSG00000085276"}},"GRch38":{"90":{"location":"3:169083499-169663618","ensembl_id":"ENSG00000085276"}}},"hgnc_date_symbol_changed":"2009-08-07"},"entity_type":"gene","entity_name":"MECOM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert Review"],"phenotypes":["Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738","Bone marrow failure without radioulnar synostosis (RUS)"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HER3"],"biotype":"protein_coding","hgnc_id":"HGNC:3431","gene_name":"erb-b2 receptor tyrosine kinase 3","omim_gene":["190151"],"alias_name":["human epidermal growth factor receptor 3"],"gene_symbol":"ERBB3","hgnc_symbol":"ERBB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56473641-56497289","ensembl_id":"ENSG00000065361"}},"GRch38":{"90":{"location":"12:56079857-56103505","ensembl_id":"ENSG00000065361"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"ERBB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17701904","31752936","33497358","12548738","38009810"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Visceral neuropathy, familial, 1, autosomal recessive MIM#243180","Lethal congenital contractural syndrome 2 MIM#607598"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAS","GALNAC6S"],"biotype":"protein_coding","hgnc_id":"HGNC:4122","gene_name":"galactosamine (N-acetyl)-6-sulfatase","omim_gene":["612222"],"alias_name":["Morquio syndrome","mucopolysaccharidosis type IVA"],"gene_symbol":"GALNS","hgnc_symbol":"GALNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88880142-88923378","ensembl_id":"ENSG00000141012"}},"GRch38":{"90":{"location":"16:88813734-88856970","ensembl_id":"ENSG00000141012"}}},"hgnc_date_symbol_changed":"1992-02-21"},"entity_type":"gene","entity_name":"GALNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9298823","23137060","18412124"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mucopolysaccharidosis IVA, 253000 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Autoimmune polyendocrine syndrome type 1 MONDO:0009411"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3894,"hash_id":null,"name":"Familial hypoparathyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with familial hypoparathyroidism. \r\n\r\nIt has been compared against the Genomics England PanelApp 'familial hypoparathyroidism' panel V3.1, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"1.13","version_created":"2026-01-29T12:46:06.444681+11:00","relevant_disorders":[],"stats":{"number_of_genes":8,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HSPOX1"],"biotype":"protein_coding","hgnc_id":"HGNC:17325","gene_name":"proline dehydrogenase 2","omim_gene":["616377"],"alias_name":null,"gene_symbol":"PRODH2","hgnc_symbol":"PRODH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36290890-36304201","ensembl_id":"ENSG00000250799"}},"GRch38":{"90":{"location":"19:35799988-35813299","ensembl_id":"ENSG00000250799"}}},"hgnc_date_symbol_changed":"2002-01-03"},"entity_type":"gene","entity_name":"PRODH2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27139199"],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["hydroxyprolinemia MONDO:0009374"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"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":null},{"gene_data":{"alias":["GLYT2"],"biotype":"protein_coding","hgnc_id":"HGNC:11051","gene_name":"solute carrier family 6 member 5","omim_gene":["604159"],"alias_name":["glycine transporter 2"],"gene_symbol":"SLC6A5","hgnc_symbol":"SLC6A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20620946-20680831","ensembl_id":"ENSG00000165970"}},"GRch38":{"90":{"location":"11:20599400-20659285","ensembl_id":"ENSG00000165970"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"SLC6A5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene","BeginNGS"],"phenotypes":["Hyperekplexia 3, MIM#614618"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["for review"],"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":["FLJ33903","PPP1R147"],"biotype":"protein_coding","hgnc_id":"HGNC:20249","gene_name":"sprouty related EVH1 domain containing 1","omim_gene":["609291"],"alias_name":["protein phosphatase 1, regulatory subunit 147"],"gene_symbol":"SPRED1","hgnc_symbol":"SPRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38544527-38649450","ensembl_id":"ENSG00000166068"}},"GRch38":{"90":{"location":"15:38252326-38357249","ensembl_id":"ENSG00000166068"}}},"hgnc_date_symbol_changed":"2003-01-24"},"entity_type":"gene","entity_name":"SPRED1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Legius syndrome, MIM# 611431"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPANK-2","prosap2","KIAA1650","PSAP2"],"biotype":"protein_coding","hgnc_id":"HGNC:14294","gene_name":"SH3 and multiple ankyrin repeat domains 3","omim_gene":["606230"],"alias_name":["proline rich synapse associated protein 2","shank postsynaptic density protein"],"gene_symbol":"SHANK3","hgnc_symbol":"SHANK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51112843-51171726","ensembl_id":"ENSG00000251322"}},"GRch38":{"90":{"location":"22:50674415-50733298","ensembl_id":"ENSG00000251322"}}},"hgnc_date_symbol_changed":"2002-02-22"},"entity_type":"gene","entity_name":"SHANK3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["17173049","30842224","16284256","20186804","22892527"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Phelan-McDermid syndrome, MIM# 606232","MONDO:0011652"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATIII","MGC22579"],"biotype":"protein_coding","hgnc_id":"HGNC:775","gene_name":"serpin family C member 1","omim_gene":["107300"],"alias_name":["antithrombin III","signal peptide antithrombin part 1","coding sequence signal peptide antithrombin part 1","antithrombin (aa 375-432)"],"gene_symbol":"SERPINC1","hgnc_symbol":"SERPINC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:173872947-173886516","ensembl_id":"ENSG00000117601"}},"GRch38":{"90":{"location":"1:173903804-173917378","ensembl_id":"ENSG00000117601"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Thrombophilia due to antithrombin III deficiency"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kir3.4","CIR","KATP1","GIRK4","LQT13"],"biotype":"protein_coding","hgnc_id":"HGNC:6266","gene_name":"potassium voltage-gated channel subfamily J member 5","omim_gene":["600734"],"alias_name":null,"gene_symbol":"KCNJ5","hgnc_symbol":"KCNJ5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:128761251-128790930","ensembl_id":"ENSG00000120457"}},"GRch38":{"90":{"location":"11:128891356-128921035","ensembl_id":"ENSG00000120457"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"KCNJ5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24574546","22203740","24420545","21311022"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0","Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Hyperaldosteronism, familial, type III, MIM# 613677"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["NMMHCA","NMHC-II-A","MHA","FTNS","EPSTS"],"biotype":"protein_coding","hgnc_id":"HGNC:7579","gene_name":"myosin heavy chain 9","omim_gene":["160775"],"alias_name":["nonmuscle myosin heavy chain II-A"],"gene_symbol":"MYH9","hgnc_symbol":"MYH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:36677327-36784063","ensembl_id":"ENSG00000100345"}},"GRch38":{"90":{"location":"22:36281281-36388018","ensembl_id":"ENSG00000100345"}}},"hgnc_date_symbol_changed":"1990-03-12"},"entity_type":"gene","entity_name":"MYH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Cockayne syndrome, type A, MIM#216400"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CARMQ1","CHRMQ1","VLDLRCH"],"biotype":"protein_coding","hgnc_id":"HGNC:12698","gene_name":"very low density lipoprotein receptor","omim_gene":["192977"],"alias_name":null,"gene_symbol":"VLDLR","hgnc_symbol":"VLDLR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:2621834-2660053","ensembl_id":"ENSG00000147852"}},"GRch38":{"90":{"location":"9:2621834-2660053","ensembl_id":"ENSG00000147852"}}},"hgnc_date_symbol_changed":"1993-09-24"},"entity_type":"gene","entity_name":"VLDLR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16080122","18326629","10380922"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp762H1311","FLJ22445","JBTS15"],"biotype":"protein_coding","hgnc_id":"HGNC:12370","gene_name":"centrosomal protein 41","omim_gene":["610523"],"alias_name":null,"gene_symbol":"CEP41","hgnc_symbol":"CEP41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:130033612-130082274","ensembl_id":"ENSG00000106477"}},"GRch38":{"90":{"location":"7:130393771-130442433","ensembl_id":"ENSG00000106477"}}},"hgnc_date_symbol_changed":"2011-10-04"},"entity_type":"gene","entity_name":"CEP41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22246503","36580738"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 15, MIM# 614464"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.1","version_created":"2026-04-24T17:01:18.976102+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450C17","CPT7","S17AH"],"biotype":"protein_coding","hgnc_id":"HGNC:2593","gene_name":"cytochrome P450 family 17 subfamily A member 1","omim_gene":["609300"],"alias_name":["Steroid 17-alpha-monooxygenase"],"gene_symbol":"CYP17A1","hgnc_symbol":"CYP17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:104590288-104597290","ensembl_id":"ENSG00000148795"}},"GRch38":{"90":{"location":"10:102830531-102837533","ensembl_id":"ENSG00000148795"}}},"hgnc_date_symbol_changed":"2003-02-28"},"entity_type":"gene","entity_name":"CYP17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"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":["KIAA1270","bA444E17.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21022","gene_name":"alanyl-tRNA synthetase 2, mitochondrial","omim_gene":["612035"],"alias_name":["alanine tRNA ligase 2, mitochondrial"],"gene_symbol":"AARS2","hgnc_symbol":"AARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44267391-44281063","ensembl_id":"ENSG00000124608"}},"GRch38":{"90":{"location":"6:44299654-44313326","ensembl_id":"ENSG00000124608"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"AARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24808023","32775515","31280959","29749055"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukoencephalopathy, progressive, with ovarian failure, MIM# 615889"],"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":"1.156","version_created":"2026-04-30T15:46:29.604965+10:00","relevant_disorders":[],"stats":{"number_of_genes":269,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4419","gene_name":"gonadotropin releasing hormone 1","omim_gene":["152760"],"alias_name":["progonadoliberin-1"],"gene_symbol":"GNRH1","hgnc_symbol":"GNRH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:25276776-25282170","ensembl_id":"ENSG00000147437"}},"GRch38":{"90":{"location":"8:25419260-25424654","ensembl_id":"ENSG00000147437"}}},"hgnc_date_symbol_changed":"1993-12-15"},"entity_type":"gene","entity_name":"GNRH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19535795","19567835","32134721","31200363","26595427"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 12 with or without anosmia, MIM# 614841"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4521,"hash_id":null,"name":"Hypogonadotropic hypogonadism","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with hypogonadotropic hypogonadism.\r\n\r\nIt includes genes from the Genomics England PanelApp 'hypogonadotropic hypogonadism' panel V1.42. \r\n\r\nFor multiple pituitary hormone deficiencies, apply Pituitary hormone deficiency panel.","status":"public","version":"0.137","version_created":"2026-04-23T15:40:19.442039+10:00","relevant_disorders":[],"stats":{"number_of_genes":93,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24160","gene_name":"brain expressed associated with NEDD4 1","omim_gene":["612051"],"alias_name":null,"gene_symbol":"BEAN1","hgnc_symbol":"BEAN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:66461200-66527432","ensembl_id":"ENSG00000166546"}},"GRch38":{"90":{"location":"16:66427297-66493529","ensembl_id":"ENSG00000166546"}}},"hgnc_date_symbol_changed":"2010-10-05"},"entity_type":"str","entity_name":"BEAN1_SCA31_TGGAA","confidence_level":"3","penetrance":null,"publications":["19878914","31755042"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 31 MIM#117210"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"TGGAA","chromosome":"16","grch37_coordinates":[66524301,66524302],"grch38_coordinates":[66490398,66490399],"normal_repeats":22,"pathogenic_repeats":80,"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":"1.4851","version_created":"2026-04-30T15:45:56.907744+10:00","relevant_disorders":[],"stats":{"number_of_genes":6024,"number_of_strs":43,"number_of_regions":9},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}