{"count":36038,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=277","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=275","results":[{"gene_data":{"alias":["Nav1.1","GEFSP2","HBSCI","NAC1","SMEI"],"biotype":"protein_coding","hgnc_id":"HGNC:10585","gene_name":"sodium voltage-gated channel alpha subunit 1","omim_gene":["182389"],"alias_name":null,"gene_symbol":"SCN1A","hgnc_symbol":"SCN1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166845670-166984523","ensembl_id":"ENSG00000144285"}},"GRch38":{"90":{"location":"2:165984641-166149214","ensembl_id":"ENSG00000144285"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SCN1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28186331","24850485"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dravet syndrome, MIM# 607208","Epilepsy, Paekinsonism"],"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":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","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":["TAP","TABP","ABP-278","FH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3755","gene_name":"filamin B","omim_gene":["603381"],"alias_name":["actin binding protein 278","beta filamin"],"gene_symbol":"FLNB","hgnc_symbol":"FLNB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57994127-58157982","ensembl_id":"ENSG00000136068"}},"GRch38":{"90":{"location":"3:58008400-58172251","ensembl_id":"ENSG00000136068"}}},"hgnc_date_symbol_changed":"1997-06-20"},"entity_type":"gene","entity_name":"FLNB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Atelosteogenesis, type I 108720","Atelosteogenesis, type III 108721","Larsen syndrome 150250","Spondylocarpotarsal synostosis syndrome 272460","Boomerang dysplasia 112310"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"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":["FLJ33207"],"biotype":"protein_coding","hgnc_id":"HGNC:26576","gene_name":"kyphoscoliosis peptidase","omim_gene":["605739"],"alias_name":null,"gene_symbol":"KY","hgnc_symbol":"KY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:134321980-134370478","ensembl_id":"ENSG00000174611"}},"GRch38":{"90":{"location":"3:134603138-134651636","ensembl_id":"ENSG00000174611"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"KY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27484770, 27485408, 30591934, 35752288"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myopathy, myofibrillar, 7, OMIM #617114"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PXAAA1","PAF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:8859","gene_name":"peroxisomal biogenesis factor 6","omim_gene":["601498"],"alias_name":null,"gene_symbol":"PEX6","hgnc_symbol":"PEX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42931608-42946958","ensembl_id":"ENSG00000124587"}},"GRch38":{"90":{"location":"6:42963870-42979220","ensembl_id":"ENSG00000124587"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PEX6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNL3","KIAA1480","ASPGX1","AUTSX1"],"biotype":"protein_coding","hgnc_id":"HGNC:14289","gene_name":"neuroligin 3","omim_gene":["300336"],"alias_name":null,"gene_symbol":"NLGN3","hgnc_symbol":"NLGN3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70364681-70391051","ensembl_id":"ENSG00000196338"}},"GRch38":{"90":{"location":"X:71144831-71171201","ensembl_id":"ENSG00000196338"}}},"hgnc_date_symbol_changed":"2001-01-02"},"entity_type":"gene","entity_name":"NLGN3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28584888","12669065","25167861"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["X-linked complex neurodevelopmental disorder MONDO:0100148","{Autism susceptibility, X-linked 1} - MIM#300425"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"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":["PiT-1","Glvr-1"],"biotype":"protein_coding","hgnc_id":"HGNC:10946","gene_name":"solute carrier family 20 member 1","omim_gene":["137570"],"alias_name":["gibbon ape leukemia virus receptor 1"],"gene_symbol":"SLC20A1","hgnc_symbol":"SLC20A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:113403434-113421404","ensembl_id":"ENSG00000144136"}},"GRch38":{"90":{"location":"2:112645857-112663827","ensembl_id":"ENSG00000144136"}}},"hgnc_date_symbol_changed":"1989-10-18"},"entity_type":"gene","entity_name":"SLC20A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32850778","27013921"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1854","CXorf2"],"biotype":"protein_coding","hgnc_id":"HGNC:13449","gene_name":"SLIT and NTRK like family member 2","omim_gene":["300561"],"alias_name":null,"gene_symbol":"SLITRK2","hgnc_symbol":"SLITRK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:144899350-144907360","ensembl_id":"ENSG00000185985"}},"GRch38":{"90":{"location":"X:145817832-145825842","ensembl_id":"ENSG00000185985"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"SLITRK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35840571"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, X-linked MIM#301107"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZnTL2","ZNT7"],"biotype":"protein_coding","hgnc_id":"HGNC:19306","gene_name":"solute carrier family 30 member 7","omim_gene":["611149"],"alias_name":null,"gene_symbol":"SLC30A7","hgnc_symbol":"SLC30A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:101361632-101447309","ensembl_id":"ENSG00000162695"}},"GRch38":{"90":{"location":"1:100896076-100981753","ensembl_id":"ENSG00000162695"}}},"hgnc_date_symbol_changed":"2003-03-14"},"entity_type":"gene","entity_name":"SLC30A7","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35751429"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Joubert syndrome (MONDO:0018772), SLC30A7-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25018096","24945461","25044745","29220607","29377742"],"evidence":["Expert Review Green","Expert Review Red","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Cone-rod dystrophy 20 (MIM#615973)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DT1P1A10","RP1-112K5.2","WGG1"],"biotype":"protein_coding","hgnc_id":"HGNC:25455","gene_name":"TSR2, ribosome maturation factor","omim_gene":["300945"],"alias_name":["WGG motif containing 1"],"gene_symbol":"TSR2","hgnc_symbol":"TSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54466834-54471920","ensembl_id":"ENSG00000158526"}},"GRch38":{"90":{"location":"X:54440401-54445487","ensembl_id":"ENSG00000158526"}}},"hgnc_date_symbol_changed":"2006-07-03"},"entity_type":"gene","entity_name":"TSR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24942156"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPX","ANF"],"biotype":"protein_coding","hgnc_id":"HGNC:4877","gene_name":"HESX homeobox 1","omim_gene":["601802"],"alias_name":null,"gene_symbol":"HESX1","hgnc_symbol":"HESX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:57231944-57260549","ensembl_id":"ENSG00000163666"}},"GRch38":{"90":{"location":"3:57197843-57226521","ensembl_id":"ENSG00000163666"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"HESX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 5, MIM# 182230"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","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":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30570","rd6","NNO2","C1QTNF5"],"biotype":"protein_coding","hgnc_id":"HGNC:18121","gene_name":"membrane frizzled-related protein","omim_gene":["606227"],"alias_name":["membrane-type frizzled-related protein","C1q and TNF related 5"],"gene_symbol":"MFRP","hgnc_symbol":"MFRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:119209652-119217383","ensembl_id":"ENSG00000235718"}},"GRch38":{"90":{"location":"11:119338942-119346673","ensembl_id":"ENSG00000235718"}}},"hgnc_date_symbol_changed":"2002-02-25"},"entity_type":"gene","entity_name":"MFRP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Microphthalmia, isolated 5, MIM# 611040"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":105,"hash_id":null,"name":"Glaucoma congenital","disease_group":"Ophthalmological 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 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.","status":"public","version":"1.12","version_created":"2026-04-07T13:50:17.268940+10:00","relevant_disorders":["Glaucoma","HP:0000501"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10563","KTU","PF13","CILD10"],"biotype":"protein_coding","hgnc_id":"HGNC:20188","gene_name":"dynein axonemal assembly factor 2","omim_gene":["612517"],"alias_name":["kintoun"],"gene_symbol":"DNAAF2","hgnc_symbol":"DNAAF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50091892-50101948","ensembl_id":"ENSG00000165506"}},"GRch38":{"90":{"location":"14:49625174-49635230","ensembl_id":"ENSG00000165506"}}},"hgnc_date_symbol_changed":"2011-06-09"},"entity_type":"gene","entity_name":"DNAAF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19052621","31107948"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 10 612518"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RIPE3b1","hMafA"],"biotype":"protein_coding","hgnc_id":"HGNC:23145","gene_name":"MAF bZIP transcription factor A","omim_gene":["610303"],"alias_name":null,"gene_symbol":"MAFA","hgnc_symbol":"MAFA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144501352-144512576","ensembl_id":"ENSG00000182759"}},"GRch38":{"90":{"location":"8:143419182-143430406","ensembl_id":"ENSG00000182759"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"MAFA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29339498"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Insulinomatosis and diabetes mellitus, OMIM #:147630"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3680","gene_name":"fibroblast growth factor 23","omim_gene":["605380"],"alias_name":null,"gene_symbol":"FGF23","hgnc_symbol":"FGF23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4477393-4488894","ensembl_id":"ENSG00000118972"}},"GRch38":{"90":{"location":"12:4368227-4379728","ensembl_id":"ENSG00000118972"}}},"hgnc_date_symbol_changed":"2000-05-16"},"entity_type":"gene","entity_name":"FGF23","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["11062477, 34444516"],"evidence":["Expert List","Expert Review Green"],"phenotypes":["Autosomal dominant hypophosphatemic rickets MONDO:0008660"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":122,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"Endocrine disorders; Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with hypophosphataemia or rickets. \r\n\r\nIt has been compared against the Genomics England PanelApp 'hypophosphataemia or rickets' panel V4.1, with all discrepancies reviewed and resolved (October 2025).","status":"public","version":"0.53","version_created":"2026-02-05T11:00:41.159014+11:00","relevant_disorders":[],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PTC","CDHF12","RET51","CDHR16"],"biotype":"protein_coding","hgnc_id":"HGNC:9967","gene_name":"ret proto-oncogene","omim_gene":["164761"],"alias_name":["cadherin-related family member 16","RET receptor tyrosine kinase","rearranged during transfection"],"gene_symbol":"RET","hgnc_symbol":"RET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:43572475-43625799","ensembl_id":"ENSG00000165731"}},"GRch38":{"90":{"location":"10:43077027-43130351","ensembl_id":"ENSG00000165731"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"RET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance","Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ34154","KIAA0614"],"biotype":"protein_coding","hgnc_id":"HGNC:26611","gene_name":"HECT domain E3 ubiquitin protein ligase 4","omim_gene":null,"alias_name":null,"gene_symbol":"HECTD4","hgnc_symbol":"HECTD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112597992-112819896","ensembl_id":"ENSG00000173064"}},"GRch38":{"90":{"location":"12:112160188-112382439","ensembl_id":"ENSG00000173064"}}},"hgnc_date_symbol_changed":"2012-08-14"},"entity_type":"gene","entity_name":"HECTD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36401616"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RDRTA2","VPP2","RTADR","a4","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:866","gene_name":"ATPase H+ transporting V0 subunit a4","omim_gene":["605239"],"alias_name":null,"gene_symbol":"ATP6V0A4","hgnc_symbol":"ATP6V0A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:138391040-138484305","ensembl_id":"ENSG00000105929"}},"GRch38":{"90":{"location":"7:138706295-138799560","ensembl_id":"ENSG00000105929"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12414817","10973252"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Renal tubular acidosis, distal, autosomal recessive, MIM#602722"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1744","gene_name":"cell division cycle 6","omim_gene":["602627"],"alias_name":null,"gene_symbol":"CDC6","hgnc_symbol":"CDC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:38443885-38459171","ensembl_id":"ENSG00000094804"}},"GRch38":{"90":{"location":"17:40287633-40304657","ensembl_id":"ENSG00000094804"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"CDC6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21358632"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Meier-Gorlin syndrome 5 (MIM#613805)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2858","gene_name":"deoxyguanosine kinase","omim_gene":["601465"],"alias_name":null,"gene_symbol":"DGUOK","hgnc_symbol":"DGUOK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74153953-74186088","ensembl_id":"ENSG00000114956"}},"GRch38":{"90":{"location":"2:73926826-73958961","ensembl_id":"ENSG00000114956"}}},"hgnc_date_symbol_changed":"1996-07-17"},"entity_type":"gene","entity_name":"DGUOK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938"],"evidence":["ClinGen","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880","Portal hypertension, noncirrhotic, 1, MIM# 617068","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD113t-C","beta-globin"],"biotype":"protein_coding","hgnc_id":"HGNC:4827","gene_name":"hemoglobin subunit beta","omim_gene":["141900"],"alias_name":null,"gene_symbol":"HBB","hgnc_symbol":"HBB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:5246694-5250625","ensembl_id":"ENSG00000244734"}},"GRch38":{"90":{"location":"11:5225464-5229395","ensembl_id":"ENSG00000244734"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HBB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31788855","20301599","29700171"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Delta-beta thalassemia 141749","Erythrocytosis 6 617980","Heinz body anemia 140700","Hereditary persistence of fetal hemoglobin 141749","Methemoglobinemia, beta type 617971","Sickle cell anemia 603903","Thalassemia-beta, dominant inclusion-body 603902","Thalassemia, beta 613985"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD117","SCFR","C-Kit"],"biotype":"protein_coding","hgnc_id":"HGNC:6342","gene_name":"KIT proto-oncogene receptor tyrosine kinase","omim_gene":["164920"],"alias_name":null,"gene_symbol":"KIT","hgnc_symbol":"KIT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:55524085-55606881","ensembl_id":"ENSG00000157404"}},"GRch38":{"90":{"location":"4:54657918-54740715","ensembl_id":"ENSG00000157404"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"KIT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Piebaldism, MIM# 172800","Gastrointestinal stromal tumor, familial, MIM# 606764","Mastocytosis, cutaneous, MIM# 154800"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRX1","HRX","ALL-1","HTRX1","CXXC7","MLL1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7132","gene_name":"lysine methyltransferase 2A","omim_gene":["159555"],"alias_name":null,"gene_symbol":"KMT2A","hgnc_symbol":"KMT2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118307205-118397539","ensembl_id":"ENSG00000118058"}},"GRch38":{"90":{"location":"11:118436490-118526832","ensembl_id":"ENSG00000118058"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16990798"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Wiedemann-Steiner syndrome, MIM# 605130 AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["norrin"],"biotype":"protein_coding","hgnc_id":"HGNC:7678","gene_name":"NDP, norrin cystine knot growth factor","omim_gene":["300658"],"alias_name":null,"gene_symbol":"NDP","hgnc_symbol":"NDP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43808022-43832750","ensembl_id":"ENSG00000124479"}},"GRch38":{"90":{"location":"X:43948776-43973504","ensembl_id":"ENSG00000124479"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NDP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23444378","8268931","17325173","27217716","29181528","31827910"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Norrie disease MONDO:0010691","Exudative vitreoretinopathy 2, X-linked, MIM 305390","Norrie disease, MIM 310600"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14466","CRACM1"],"biotype":null,"hgnc_id":"HGNC:25896","gene_name":"ORAI calcium release-activated calcium modulator 1","omim_gene":["610277"],"alias_name":["calcium release-activated calcium modulator 1"],"gene_symbol":"ORAI1","hgnc_symbol":"ORAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122064455-122080583","ensembl_id":"ENSG00000182500"}},"GRch38":{"90":{"location":"12:121626550-121642677","ensembl_id":"ENSG00000276045"}}},"hgnc_date_symbol_changed":"2007-08-14"},"entity_type":"gene","entity_name":"ORAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31448844"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 9, MIM#\t612782","Myopathy, tubular aggregate, 2, MIM#\t615883"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9059","gene_name":"phospholipase C beta 4","omim_gene":["600810"],"alias_name":null,"gene_symbol":"PLCB4","hgnc_symbol":"PLCB4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:9049410-9461889","ensembl_id":"ENSG00000101333"}},"GRch38":{"90":{"location":"20:9068763-9481242","ensembl_id":"ENSG00000101333"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"PLCB4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22560091","23315542","33131036","32201334","28328130","27007857","23913798"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Auriculocondylar syndrome 2A, MIM# 614669","Auriculocondylar syndrome 2B, MIM# 620458"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IPLA2G","IPLA2-2","iPLA2gamma"],"biotype":"protein_coding","hgnc_id":"HGNC:28900","gene_name":"patatin like phospholipase domain containing 8","omim_gene":["612123"],"alias_name":null,"gene_symbol":"PNPLA8","hgnc_symbol":"PNPLA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:108110866-108210110","ensembl_id":"ENSG00000135241"}},"GRch38":{"90":{"location":"7:108470422-108569666","ensembl_id":"ENSG00000135241"}}},"hgnc_date_symbol_changed":"2006-06-12"},"entity_type":"gene","entity_name":"PNPLA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29681094","25512002"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related","Mitochondrial myopathy with lactic acidosis (MIM#251950), AR"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0376"],"biotype":"protein_coding","hgnc_id":"HGNC:29022","gene_name":"sperm antigen with calponin homology and coiled-coil domains 1 like","omim_gene":["614140"],"alias_name":["cytokinesis and spindle organization A"],"gene_symbol":"SPECC1L","hgnc_symbol":"SPECC1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:24666786-24813708","ensembl_id":"ENSG00000100014"}},"GRch38":{"90":{"location":"22:24270817-24417740","ensembl_id":"ENSG00000100014"}}},"hgnc_date_symbol_changed":"2010-09-17"},"entity_type":"gene","entity_name":"SPECC1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25412741","26111080","21703590"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypertelorism, Teebi type, MIM# 145420","Opitz GBBB syndrome, type II, MIM#145410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11573","gene_name":"tyrosine aminotransferase","omim_gene":["613018"],"alias_name":null,"gene_symbol":"TAT","hgnc_symbol":"TAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:71599563-71611033","ensembl_id":"ENSG00000198650"}},"GRch38":{"90":{"location":"16:71565660-71577130","ensembl_id":"ENSG00000198650"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Tyrosinaemia, type II, MIM# 276600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIM44"],"biotype":"protein_coding","hgnc_id":"HGNC:17316","gene_name":"translocase of inner mitochondrial membrane 44","omim_gene":["605058"],"alias_name":null,"gene_symbol":"TIMM44","hgnc_symbol":"TIMM44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7991603-8008805","ensembl_id":"ENSG00000104980"}},"GRch38":{"90":{"location":"19:7926718-7943920","ensembl_id":"ENSG00000104980"}}},"hgnc_date_symbol_changed":"2002-01-15"},"entity_type":"gene","entity_name":"TIMM44","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0441","BIF1","PATZ2"],"biotype":"protein_coding","hgnc_id":"HGNC:21143","gene_name":"zinc finger and BTB domain containing 24","omim_gene":["614064"],"alias_name":["POZ (BTB) and AT hook containing zinc finger 2"],"gene_symbol":"ZBTB24","hgnc_symbol":"ZBTB24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:109783797-109804440","ensembl_id":"ENSG00000112365"}},"GRch38":{"90":{"location":"6:109462594-109483237","ensembl_id":"ENSG00000112365"}}},"hgnc_date_symbol_changed":"2004-04-16"},"entity_type":"gene","entity_name":"ZBTB24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21596365","21906047","23486536"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM# 614069","MONDO:0013553"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ZNF927"],"biotype":"protein_coding","hgnc_id":"HGNC:777","gene_name":"zinc finger homeobox 3","omim_gene":["104155"],"alias_name":null,"gene_symbol":"ZFHX3","hgnc_symbol":"ZFHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72816784-73093597","ensembl_id":"ENSG00000140836"}},"GRch38":{"90":{"location":"16:72782885-73144447","ensembl_id":"ENSG00000140836"}}},"hgnc_date_symbol_changed":"2007-08-09"},"entity_type":"gene","entity_name":"ZFHX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38412861","37292950"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related","{Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GS-X"],"biotype":"protein_coding","hgnc_id":"HGNC:51","gene_name":"ATP binding cassette subfamily C member 1","omim_gene":["158343"],"alias_name":null,"gene_symbol":"ABCC1","hgnc_symbol":"ABCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:16043434-16236931","ensembl_id":"ENSG00000103222"}},"GRch38":{"90":{"location":"16:15949577-16143074","ensembl_id":"ENSG00000103222"}}},"hgnc_date_symbol_changed":"1993-06-29"},"entity_type":"gene","entity_name":"ABCC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31273342"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Deafness-77, autosomal dominant (DFNA77), MIM#618915"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:27344","gene_name":"transmembrane protein 218","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM218","hgnc_symbol":"TMEM218","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124966398-124981659","ensembl_id":"ENSG00000150433"}},"GRch38":{"90":{"location":"11:125096545-125111763","ensembl_id":"ENSG00000150433"}}},"hgnc_date_symbol_changed":"2008-06-10"},"entity_type":"gene","entity_name":"TMEM218","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33791682","25161209"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 39, MIM#619562","retinal dystrophy","polycystic kidneys","occipital encephalocele"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["brPTB","nPTB","PTB","PTBLP"],"biotype":"protein_coding","hgnc_id":"HGNC:17662","gene_name":"polypyrimidine tract binding protein 2","omim_gene":["608449"],"alias_name":null,"gene_symbol":"PTBP2","hgnc_symbol":"PTBP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:97187221-97289294","ensembl_id":"ENSG00000117569"}},"GRch38":{"90":{"location":"1:96721665-96823738","ensembl_id":"ENSG00000117569"}}},"hgnc_date_symbol_changed":"2002-01-25"},"entity_type":"gene","entity_name":"PTBP2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40965981"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), PTBP2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SA-1","SCC3A","SA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11354","gene_name":"stromal antigen 1","omim_gene":["604358"],"alias_name":null,"gene_symbol":"STAG1","hgnc_symbol":"STAG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:136055077-136471220","ensembl_id":"ENSG00000118007"}},"GRch38":{"90":{"location":"3:136336233-136752403","ensembl_id":"ENSG00000118007"}}},"hgnc_date_symbol_changed":"1999-04-29"},"entity_type":"gene","entity_name":"STAG1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28119487"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 47, MIM# 617635"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":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":145,"hash_id":null,"name":"Neurotransmitter Defects","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["15689440","26459993"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CHILD syndrome\t(MIM#308050)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HT2A","TATIP","BBS11"],"biotype":"protein_coding","hgnc_id":"HGNC:16380","gene_name":"tripartite motif containing 32","omim_gene":["602290"],"alias_name":null,"gene_symbol":"TRIM32","hgnc_symbol":"TRIM32","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:119449581-119463579","ensembl_id":"ENSG00000119401"}},"GRch38":{"90":{"location":"9:116687302-116701300","ensembl_id":"ENSG00000119401"}}},"hgnc_date_symbol_changed":"2001-08-10"},"entity_type":"gene","entity_name":"TRIM32","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16606853"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 11, MIM# 615988"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["PMID: 2843762, 14671162, 2026124"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":190,"hash_id":null,"name":"Hypertension and Aldosterone disorders","disease_group":"Renal and urinary tract disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertension and aldosterone disorders. \r\n\r\nThis panel was created and is maintained by the KidGen Collaborative. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Extreme early-onset hypertension' panel V1.23, with all discrepancies reviewed and resolved (January 2026).","status":"public","version":"1.18","version_created":"2026-01-08T17:00:09.030229+11:00","relevant_disorders":["Hypertension","HP:0000822; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":24,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:609","gene_name":"apolipoprotein C2","omim_gene":["608083"],"alias_name":null,"gene_symbol":"APOC2","hgnc_symbol":"APOC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45449243-45452822","ensembl_id":"ENSG00000234906"}},"GRch38":{"90":{"location":"19:44945982-44949565","ensembl_id":"ENSG00000234906"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APOC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39547356","27297947","27840752","30686043","30197986"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["APOC2-related amyloidosis, MONDO:0019065"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":191,"hash_id":null,"name":"Amyloidosis","disease_group":"","disease_sub_group":"","description":"This panel contains genes that cause amyloidosis, characterised by a buildup of abnormal amyloid deposits in the heart, brain, kidneys, spleen and other parts of the body.\r\n\r\nThe panel was originally named \"Renal Amyloidosis\" and was developed by the KidGen Collaborative. It is also a consensus panel used by VCGS and RMH.","status":"public","version":"1.1","version_created":"2025-07-04T20:21:06.835536+10:00","relevant_disorders":["Renal amyloidosis","HP:0001917; Amyloidosis","HP:0011034"],"stats":{"number_of_genes":11,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0473","PARK19"],"biotype":"protein_coding","hgnc_id":"HGNC:15469","gene_name":"DnaJ heat shock protein family (Hsp40) member C6","omim_gene":["608375"],"alias_name":["auxilin"],"gene_symbol":"DNAJC6","hgnc_symbol":"DNAJC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65713902-65881552","ensembl_id":"ENSG00000116675"}},"GRch38":{"90":{"location":"1:65248219-65415869","ensembl_id":"ENSG00000116675"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"DNAJC6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22563501, 23211418, 26528954, 33983693"],"evidence":["Expert list","Expert Review Amber"],"phenotypes":["Parkinson disease 19a, juvenile-onset - MIM#615528","Parkinson disease 19b, early-onset - MIM#615528"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ40E16.7"],"biotype":"protein_coding","hgnc_id":"HGNC:12412","gene_name":"tubulin beta 2A class IIa","omim_gene":["615101"],"alias_name":["class IIa beta-tubulin"],"gene_symbol":"TUBB2A","hgnc_symbol":"TUBB2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3153903-3157760","ensembl_id":"ENSG00000137267"}},"GRch38":{"90":{"location":"6:3153669-3157526","ensembl_id":"ENSG00000137267"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24702957","25326637"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 5, MIM#615763"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:132","gene_name":"actin beta","omim_gene":["102630"],"alias_name":null,"gene_symbol":"ACTB","hgnc_symbol":"ACTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:5566782-5603415","ensembl_id":"ENSG00000075624"}},"GRch38":{"90":{"location":"7:5527151-5563784","ensembl_id":"ENSG00000075624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ842G6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:15899","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 5","omim_gene":["612360"],"alias_name":null,"gene_symbol":"NDUFAF5","hgnc_symbol":"NDUFAF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:13765596-13799067","ensembl_id":"ENSG00000101247"}},"GRch38":{"90":{"location":"20:13784950-13821582","ensembl_id":"ENSG00000101247"}}},"hgnc_date_symbol_changed":"2012-05-08"},"entity_type":"gene","entity_name":"NDUFAF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22031","FLJ14927","KIAA1500"],"biotype":"protein_coding","hgnc_id":"HGNC:19185","gene_name":"Fraser extracellular matrix complex subunit 1","omim_gene":["607830"],"alias_name":null,"gene_symbol":"FRAS1","hgnc_symbol":"FRAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:78978724-79465423","ensembl_id":"ENSG00000138759"}},"GRch38":{"90":{"location":"4:78057570-78544269","ensembl_id":"ENSG00000138759"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"FRAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6556","gene_name":"leucine zipper and EF-hand containing transmembrane protein 1","omim_gene":["604407"],"alias_name":["Mdm38 homolog (yeast)"],"gene_symbol":"LETM1","hgnc_symbol":"LETM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1813206-1857974","ensembl_id":"ENSG00000168924"}},"GRch38":{"90":{"location":"4:1811479-1856247","ensembl_id":"ENSG00000168924"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"LETM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36055214"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DDBB","UV-DDB2","FLJ34321","XPE"],"biotype":"protein_coding","hgnc_id":"HGNC:2718","gene_name":"damage specific DNA binding protein 2","omim_gene":["600811"],"alias_name":["xeroderma pigmentosum group E protein","UV-damaged DNA-binding protein 2","DDB p48 subunit"],"gene_symbol":"DDB2","hgnc_symbol":"DDB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47236493-47260767","ensembl_id":"ENSG00000134574"}},"GRch38":{"90":{"location":"11:47214465-47239240","ensembl_id":"ENSG00000134574"}}},"hgnc_date_symbol_changed":"1995-07-06"},"entity_type":"gene","entity_name":"DDB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HFK2","QIN","BF1","HFK1","HFK3","HBF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3811","gene_name":"forkhead box G1","omim_gene":["164874"],"alias_name":null,"gene_symbol":"FOXG1","hgnc_symbol":"FOXG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:29235050-29238870","ensembl_id":"ENSG00000176165"}},"GRch38":{"90":{"location":"14:28760330-28770277","ensembl_id":"ENSG00000176165"}}},"hgnc_date_symbol_changed":"2007-05-16"},"entity_type":"gene","entity_name":"FOXG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["T1"],"biotype":"protein_coding","hgnc_id":"HGNC:10990","gene_name":"solute carrier family 25 member 4","omim_gene":["103220"],"alias_name":null,"gene_symbol":"SLC25A4","hgnc_symbol":"SLC25A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186064395-186071536","ensembl_id":"ENSG00000151729"}},"GRch38":{"90":{"location":"4:185143241-185150382","ensembl_id":"ENSG00000151729"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"SLC25A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAE"],"biotype":"protein_coding","hgnc_id":"HGNC:3586","gene_name":"Fanconi anemia complementation group E","omim_gene":["613976"],"alias_name":null,"gene_symbol":"FANCE","hgnc_symbol":"FANCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35420138-35434880","ensembl_id":"ENSG00000112039"}},"GRch38":{"90":{"location":"6:35452361-35467103","ensembl_id":"ENSG00000112039"}}},"hgnc_date_symbol_changed":"1996-04-09"},"entity_type":"gene","entity_name":"FANCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Fanconi anaemia, complementation group E, MIM# 600901"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRANCE","RANKL","OPGL","ODF","CD254"],"biotype":"protein_coding","hgnc_id":"HGNC:11926","gene_name":"TNF superfamily member 11","omim_gene":["602642"],"alias_name":null,"gene_symbol":"TNFSF11","hgnc_symbol":"TNFSF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:43136872-43182149","ensembl_id":"ENSG00000120659"}},"GRch38":{"90":{"location":"13:42562736-42608013","ensembl_id":"ENSG00000120659"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17632511","32048120","10984520"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Osteopetrosis, autosomal recessive 2 MIM#259710"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.36","version_created":"2026-04-08T12:35:08.612526+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VGAT","bA122O1.1"],"biotype":"protein_coding","hgnc_id":"HGNC:11018","gene_name":"solute carrier family 32 member 1","omim_gene":["616440"],"alias_name":null,"gene_symbol":"SLC32A1","hgnc_symbol":"SLC32A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:37353105-37358015","ensembl_id":"ENSG00000101438"}},"GRch38":{"90":{"location":"20:38724462-38729372","ensembl_id":"ENSG00000101438"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC32A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36073542"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Generalized epilepsy with febrile seizures plus, type 12, MIM# 620755","Developmental and epileptic encephalopathy 114, MIM# 620774"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OSC"],"biotype":"protein_coding","hgnc_id":"HGNC:6708","gene_name":"lanosterol synthase","omim_gene":["600909"],"alias_name":["Oxidosqualene-lanosterol cyclase"],"gene_symbol":"LSS","hgnc_symbol":"LSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47608055-47648738","ensembl_id":"ENSG00000160285"}},"GRch38":{"90":{"location":"21:46188141-46228824","ensembl_id":"ENSG00000160285"}}},"hgnc_date_symbol_changed":"1998-05-07"},"entity_type":"gene","entity_name":"LSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30723320"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cataract 44, OMIM #616509","Hypotrichosis 14, OMIM #618275","intellectual disability and alopecia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["16E1BP"],"biotype":"protein_coding","hgnc_id":"HGNC:12307","gene_name":"thyroid hormone receptor interactor 13","omim_gene":["604507"],"alias_name":["thyroid receptor interacting protein 13"],"gene_symbol":"TRIP13","hgnc_symbol":"TRIP13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:892758-919472","ensembl_id":"ENSG00000071539"}},"GRch38":{"90":{"location":"5:892643-919357","ensembl_id":"ENSG00000071539"}}},"hgnc_date_symbol_changed":"2000-01-04"},"entity_type":"gene","entity_name":"TRIP13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28553959"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Mosaic variegated aneuploidy syndrome 3, MIM# 617598"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21404","FSA","KIAA1371","Tweek"],"biotype":"protein_coding","hgnc_id":"HGNC:26953","gene_name":"KIAA1109","omim_gene":["611565"],"alias_name":["fragile site-associated"],"gene_symbol":"KIAA1109","hgnc_symbol":"KIAA1109","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123073488-123283913","ensembl_id":"ENSG00000138688"}},"GRch38":{"90":{"location":"4:122152333-122362758","ensembl_id":"ENSG00000138688"}}},"hgnc_date_symbol_changed":"2004-07-29"},"entity_type":"gene","entity_name":"KIAA1109","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29290337","30906834"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Alkuraya-Kucinskas syndrome, MIM# 617822"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CL-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:2220","gene_name":"collectin subfamily member 10","omim_gene":["607620"],"alias_name":null,"gene_symbol":"COLEC10","hgnc_symbol":"COLEC10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:120007691-120118821","ensembl_id":"ENSG00000184374"}},"GRch38":{"90":{"location":"8:118995452-119106582","ensembl_id":"ENSG00000184374"}}},"hgnc_date_symbol_changed":"2000-04-11"},"entity_type":"gene","entity_name":"COLEC10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28301481"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["3MC syndrome 3, MIM# 248340"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10387","SZT2B","RP11-506B15.1","FLJ34502","SZT2A"],"biotype":"protein_coding","hgnc_id":"HGNC:29040","gene_name":"SZT2, KICSTOR complex subunit","omim_gene":["615463"],"alias_name":["seizure threshold 2 homolog A (mouse)","seizure threshold 2 homolog B (mouse)"],"gene_symbol":"SZT2","hgnc_symbol":"SZT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43855553-43918321","ensembl_id":"ENSG00000198198"}},"GRch38":{"90":{"location":"1:43389882-43454247","ensembl_id":"ENSG00000198198"}}},"hgnc_date_symbol_changed":"2011-06-10"},"entity_type":"gene","entity_name":"SZT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23932106","30560016","30359774","28556953","32402703"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPH3","KIAA2000","FLJ30691","FLJ36696","MKS7","SLSN3","CFAP31"],"biotype":"protein_coding","hgnc_id":"HGNC:7907","gene_name":"nephrocystin 3","omim_gene":["608002"],"alias_name":["Meckel syndrome, type 7","cilia and flagella associated protein 31"],"gene_symbol":"NPHP3","hgnc_symbol":"NPHP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:132276986-132441303","ensembl_id":"ENSG00000113971"}},"GRch38":{"90":{"location":"3:132680609-132722442","ensembl_id":"ENSG00000113971"}}},"hgnc_date_symbol_changed":"2000-01-20"},"entity_type":"gene","entity_name":"NPHP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18371931"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Meckel syndrome 7, MIM# 267010"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0266","CDG1P"],"biotype":"protein_coding","hgnc_id":"HGNC:32456","gene_name":"ALG11, alpha-1,2-mannosyltransferase","omim_gene":["613666"],"alias_name":["GDP-Man:Man(3)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"],"gene_symbol":"ALG11","hgnc_symbol":"ALG11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:52586534-52603800","ensembl_id":"ENSG00000253710"}},"GRch38":{"90":{"location":"13:52012398-52029664","ensembl_id":"ENSG00000253710"}}},"hgnc_date_symbol_changed":"2006-03-24"},"entity_type":"gene","entity_name":"ALG11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30676690"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Congenital disorder of glycosylation, type Ip, MIM# 613661"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OATPRP4","OATP-J","OATP5A1"],"biotype":"protein_coding","hgnc_id":"HGNC:19046","gene_name":"solute carrier organic anion transporter family member 5A1","omim_gene":["613543"],"alias_name":null,"gene_symbol":"SLCO5A1","hgnc_symbol":"SLCO5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:70579282-70747299","ensembl_id":"ENSG00000137571"}},"GRch38":{"90":{"location":"8:69667047-69835064","ensembl_id":"ENSG00000137571"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"SLCO5A1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20602915"],"evidence":["Expert list","NHS GMS","Expert Review Red"],"phenotypes":["Mesomelia-synostoses syndrome 600383","Mesomelia-synostoses syndrome\t600383"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13305"],"biotype":"protein_coding","hgnc_id":"HGNC:25808","gene_name":"family with sequence similarity 161 member A","omim_gene":["613596"],"alias_name":null,"gene_symbol":"FAM161A","hgnc_symbol":"FAM161A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:62051989-62081278","ensembl_id":"ENSG00000170264"}},"GRch38":{"90":{"location":"2:61824854-61854143","ensembl_id":"ENSG00000170264"}}},"hgnc_date_symbol_changed":"2008-06-05"},"entity_type":"gene","entity_name":"FAM161A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20705278","20705279","31236346","24833722"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 28, 606068","Retinitis pigmentosa 28 MONDO:0011630"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26936825","16565502","26964041","26814127","30932721","30269812"],"evidence":["Royal Melbourne Hospital","Expert Review Amber","Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Retinitis pigmentosa 83","Joubert syndrome 35"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0304","MLL2","TRX2","HRX2","WBP7","MLL1B","MLL4","CXXC10"],"biotype":"protein_coding","hgnc_id":"HGNC:15840","gene_name":"lysine methyltransferase 2B","omim_gene":["606834"],"alias_name":["myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"],"gene_symbol":"KMT2B","hgnc_symbol":"KMT2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:36208921-36229779","ensembl_id":"ENSG00000272333"}},"GRch38":{"90":{"location":"19:35718019-35738878","ensembl_id":"ENSG00000272333"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27839873","27992417"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["early-onset dystonia","Dystonia 28, childhood-onset 617284","MONDO:0015004"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OMI","PARK13"],"biotype":"protein_coding","hgnc_id":"HGNC:14348","gene_name":"HtrA serine peptidase 2","omim_gene":["606441"],"alias_name":null,"gene_symbol":"HTRA2","hgnc_symbol":"HTRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74756504-74760472","ensembl_id":"ENSG00000115317"}},"GRch38":{"90":{"location":"2:74529377-74533348","ensembl_id":"ENSG00000115317"}}},"hgnc_date_symbol_changed":"2005-08-19"},"entity_type":"gene","entity_name":"HTRA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27208207","27696117","30114719"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["3-methylglutaconic aciduria type 8 MONDO:0044723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10619","KIAA0453"],"biotype":"protein_coding","hgnc_id":"HGNC:23595","gene_name":"vacuolar protein sorting 13 homolog D","omim_gene":["608877"],"alias_name":null,"gene_symbol":"VPS13D","hgnc_symbol":"VPS13D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:12290124-12572099","ensembl_id":"ENSG00000048707"}},"GRch38":{"90":{"location":"1:12230067-12512047","ensembl_id":"ENSG00000048707"}}},"hgnc_date_symbol_changed":"2004-02-10"},"entity_type":"gene","entity_name":"VPS13D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29604224","29518281"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 4, MIM#\t607317"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAAH","FLJ25287"],"biotype":"protein_coding","hgnc_id":"HGNC:21197","gene_name":"fatty acid 2-hydroxylase","omim_gene":["611026"],"alias_name":["fatty acid hydroxylase"],"gene_symbol":"FA2H","hgnc_symbol":"FA2H","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:74746853-74808729","ensembl_id":"ENSG00000103089"}},"GRch38":{"90":{"location":"16:74712955-74774831","ensembl_id":"ENSG00000103089"}}},"hgnc_date_symbol_changed":"2003-10-31"},"entity_type":"gene","entity_name":"FA2H","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31837835","30446360","22965561","21592092"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 35, autosomal recessive, MIM#612319"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3032","gene_name":"dystrophin related protein 2","omim_gene":["300052"],"alias_name":null,"gene_symbol":"DRP2","hgnc_symbol":"DRP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100474758-100519486","ensembl_id":"ENSG00000102385"}},"GRch38":{"90":{"location":"X:101219769-101264497","ensembl_id":"ENSG00000102385"}}},"hgnc_date_symbol_changed":"1996-07-17"},"entity_type":"gene","entity_name":"DRP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22764250","26227883","31217940"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot Marie Tooth, intermediate X-linked","HMSN"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Meckel syndrome 5","Joubert syndrome 7","COACH syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0321"],"biotype":"protein_coding","hgnc_id":"HGNC:20761","gene_name":"zinc finger FYVE-type containing 26","omim_gene":["612012"],"alias_name":["spastizin","FYVE-CENT"],"gene_symbol":"ZFYVE26","hgnc_symbol":"ZFYVE26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:68194091-68283307","ensembl_id":"ENSG00000072121"}},"GRch38":{"90":{"location":"14:67727374-67816590","ensembl_id":"ENSG00000072121"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"ZFYVE26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31385551","18394578","14409555"],"evidence":["Expert Review Green","Expert Review","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 15, autosomal recessive MIM#270700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ33496","KIAA1843","UNC-80"],"biotype":"protein_coding","hgnc_id":"HGNC:26582","gene_name":"unc-80 homolog, NALCN channel complex subunit","omim_gene":["612636"],"alias_name":null,"gene_symbol":"UNC80","hgnc_symbol":"UNC80","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:210636717-210864024","ensembl_id":"ENSG00000144406"}},"GRch38":{"90":{"location":"2:209771993-209999300","ensembl_id":"ENSG00000144406"}}},"hgnc_date_symbol_changed":"2009-08-17"},"entity_type":"gene","entity_name":"UNC80","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive"],"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":["GABAT"],"biotype":"protein_coding","hgnc_id":"HGNC:23","gene_name":"4-aminobutyrate aminotransferase","omim_gene":["137150"],"alias_name":["4-aminobutyrate transaminase"],"gene_symbol":"ABAT","hgnc_symbol":"ABAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8768422-8878432","ensembl_id":"ENSG00000183044"}},"GRch38":{"90":{"location":"16:8674565-8784575","ensembl_id":"ENSG00000183044"}}},"hgnc_date_symbol_changed":"1996-03-13"},"entity_type":"gene","entity_name":"ABAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["GABA-transaminase deficiency, 613163 (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":["PHOG","GCFX","SS","SHOXY"],"biotype":"protein_coding","hgnc_id":"HGNC:10853","gene_name":"short stature homeobox","omim_gene":["312865","400020"],"alias_name":null,"gene_symbol":"SHOX","hgnc_symbol":"SHOX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:585079-620146","ensembl_id":"ENSG00000185960"}},"GRch38":{"90":{"location":"X:624344-659411","ensembl_id":"ENSG00000185960"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"SHOX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Langer mesomelic dysplasia, 249700 (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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3148","gene_name":"thymidine phosphorylase","omim_gene":["131222"],"alias_name":["gliostatin"],"gene_symbol":"TYMP","hgnc_symbol":"TYMP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50964181-50968485","ensembl_id":"ENSG00000025708"}},"GRch38":{"90":{"location":"22:50525752-50530056","ensembl_id":"ENSG00000025708"}}},"hgnc_date_symbol_changed":"2008-01-21"},"entity_type":"gene","entity_name":"TYMP","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 41163431","PMID: 35341481"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041"],"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":"0.410","version_created":"2026-04-06T10:52:55.877866+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":null},{"gene_data":{"alias":["LZTR-1","BTBD29"],"biotype":"protein_coding","hgnc_id":"HGNC:6742","gene_name":"leucine zipper like transcription regulator 1","omim_gene":["600574"],"alias_name":null,"gene_symbol":"LZTR1","hgnc_symbol":"LZTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21333751-21353327","ensembl_id":"ENSG00000099949"}},"GRch38":{"90":{"location":"22:20979462-20999038","ensembl_id":"ENSG00000099949"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"LZTR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25795793","29469822"],"evidence":["Expert Review Green","Expert List","NHS GMS"],"phenotypes":["Schwannomatosis-2, susceptibility to 615670","Noonan syndrome 10 616564"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12701","FLJ13990"],"biotype":"protein_coding","hgnc_id":"HGNC:16650","gene_name":"mitochondrial ribosomal protein L44","omim_gene":["611849"],"alias_name":["39S ribosomal protein L44, mitochondrial"],"gene_symbol":"MRPL44","hgnc_symbol":"MRPL44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:224822121-224832431","ensembl_id":"ENSG00000135900"}},"GRch38":{"90":{"location":"2:223957404-223967714","ensembl_id":"ENSG00000135900"}}},"hgnc_date_symbol_changed":"2001-10-12"},"entity_type":"gene","entity_name":"MRPL44","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23315540","25797485"],"evidence":["Expert Review Green","London South GLH","NHS GMS"],"phenotypes":["Combined oxidative phosphorylation deficiency 16, 615395"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Lipodystrophy, congenital generalized, type 4"],"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":["FLJ31641","CMT2P"],"biotype":"protein_coding","hgnc_id":"HGNC:25135","gene_name":"leucine rich repeat and sterile alpha motif containing 1","omim_gene":["610933"],"alias_name":null,"gene_symbol":"LRSAM1","hgnc_symbol":"LRSAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130213765-130265780","ensembl_id":"ENSG00000148356"}},"GRch38":{"90":{"location":"9:127451486-127503501","ensembl_id":"ENSG00000148356"}}},"hgnc_date_symbol_changed":"2003-12-19"},"entity_type":"gene","entity_name":"LRSAM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["DIAMOND-BLACKFAN ANEMIA 4","DBA4"],"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":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBX","HLP2","DDX14"],"biotype":"protein_coding","hgnc_id":"HGNC:2745","gene_name":"DEAD-box helicase 3, X-linked","omim_gene":["300160"],"alias_name":null,"gene_symbol":"DDX3X","hgnc_symbol":"DDX3X","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41192651-41223725","ensembl_id":"ENSG00000215301"}},"GRch38":{"90":{"location":"X:41333348-41364472","ensembl_id":"ENSG00000215301"}}},"hgnc_date_symbol_changed":"2003-06-20"},"entity_type":"gene","entity_name":"DDX3X","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber"],"phenotypes":["MRX102","MENTAL RETARDATION, X-LINKED 102"],"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":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1839","FLJ20008","RBM40","SNRNP65"],"biotype":"protein_coding","hgnc_id":"HGNC:18666","gene_name":"RNA binding region (RNP1, RRM) containing 3","omim_gene":null,"alias_name":["U11/U12 snRNP 65K"],"gene_symbol":"RNPC3","hgnc_symbol":"RNPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:104068313-104097861","ensembl_id":"ENSG00000185946"}},"GRch38":{"90":{"location":"1:103525691-103555239","ensembl_id":"ENSG00000185946"}}},"hgnc_date_symbol_changed":"2002-09-17"},"entity_type":"gene","entity_name":"RNPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29866761","32462814","33650182","37463572","35792517","34906446"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Growth hormone deficiency","Intellectual disability"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22729224"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Megalencephaly syndromes"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DMP3"],"biotype":"protein_coding","hgnc_id":"HGNC:3054","gene_name":"dentin sialophosphoprotein","omim_gene":["125485"],"alias_name":null,"gene_symbol":"DSPP","hgnc_symbol":"DSPP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:88529681-88538062","ensembl_id":"ENSG00000152591"}},"GRch38":{"90":{"location":"4:87608529-87616910","ensembl_id":"ENSG00000152591"}}},"hgnc_date_symbol_changed":"1997-01-08"},"entity_type":"gene","entity_name":"DSPP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 18456718, 11175779"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dentinogenesis imperfecta, Shields type II, OMIM #125490"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"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":["TRX1","HRX","ALL-1","HTRX1","CXXC7","MLL1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7132","gene_name":"lysine methyltransferase 2A","omim_gene":["159555"],"alias_name":null,"gene_symbol":"KMT2A","hgnc_symbol":"KMT2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118307205-118397539","ensembl_id":"ENSG00000118058"}},"GRch38":{"90":{"location":"11:118436490-118526832","ensembl_id":"ENSG00000118058"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22795537","24886118"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Wiedemann-Steiner syndrome MIM#605130"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hnRNPH'","FTP3","HNRPH'"],"biotype":"protein_coding","hgnc_id":"HGNC:5042","gene_name":"heterogeneous nuclear ribonucleoprotein H2","omim_gene":["300610"],"alias_name":null,"gene_symbol":"HNRNPH2","hgnc_symbol":"HNRNPH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100663283-100669121","ensembl_id":"ENSG00000126945"}},"GRch38":{"90":{"location":"X:101408295-101414133","ensembl_id":"ENSG00000126945"}}},"hgnc_date_symbol_changed":"2008-04-18"},"entity_type":"gene","entity_name":"HNRNPH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34907471","33728377","31670473","31236915","30887513"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Intellectual developmental disorder, X-linked, syndromic, Bain type MIM#300986"],"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":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ13479"],"biotype":"protein_coding","hgnc_id":"HGNC:25821","gene_name":"zinc finger protein 668","omim_gene":["617103"],"alias_name":null,"gene_symbol":"ZNF668","hgnc_symbol":"ZNF668","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31072164-31085641","ensembl_id":"ENSG00000167394"}},"GRch38":{"90":{"location":"16:31060843-31074320","ensembl_id":"ENSG00000167394"}}},"hgnc_date_symbol_changed":"2005-03-18"},"entity_type":"gene","entity_name":"ZNF668","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34313816","26633546"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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":["20717171","21385794"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Dursun syndrome 612541","Neutropenia, severe congenital 4, autosomal recessive 612541"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1573"],"biotype":"protein_coding","hgnc_id":"HGNC:29314","gene_name":"cache domain containing 1","omim_gene":null,"alias_name":null,"gene_symbol":"CACHD1","hgnc_symbol":"CACHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64936428-65158741","ensembl_id":"ENSG00000158966"}},"GRch38":{"90":{"location":"1:64470792-64693058","ensembl_id":"ENSG00000158966"}}},"hgnc_date_symbol_changed":"2005-10-11"},"entity_type":"gene","entity_name":"CACHD1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 38158856"],"evidence":["Expert Review Green","Literature"],"phenotypes":["syndromic complex neurodevelopmental disorder MONDO:0800439"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2198","gene_name":"collagen type I alpha 2 chain","omim_gene":["120160"],"alias_name":["alpha 2(I)-collagen","alpha-2 collagen type I","type I procollagen","collagen I, alpha-2 polypeptide","collagen of skin, tendon and bone, alpha-2 chain"],"gene_symbol":"COL1A2","hgnc_symbol":"COL1A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:94023873-94060544","ensembl_id":"ENSG00000164692"}},"GRch38":{"90":{"location":"7:94394561-94431232","ensembl_id":"ENSG00000164692"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL1A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120","Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821","Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320","Osteogenesis imperfecta, type II, MIM# 166210","Osteogenesis imperfecta, type III, MIM# 259420","Osteogenesis imperfecta, type IV, MIM# 166220"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0569","SIP-1","SIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:14881","gene_name":"zinc finger E-box binding homeobox 2","omim_gene":["605802"],"alias_name":["SMAD interacting protein 1"],"gene_symbol":"ZEB2","hgnc_symbol":"ZEB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:145141648-145282147","ensembl_id":"ENSG00000169554"}},"GRch38":{"90":{"location":"2:144364364-144524583","ensembl_id":"ENSG00000169554"}}},"hgnc_date_symbol_changed":"2007-02-15"},"entity_type":"gene","entity_name":"ZEB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29300384"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Mowat-Wilson syndrome, MIM# 235730","MONDO:0009341"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DNC","MUP1","TPC"],"biotype":"protein_coding","hgnc_id":"HGNC:14409","gene_name":"solute carrier family 25 member 19","omim_gene":["606521"],"alias_name":null,"gene_symbol":"SLC25A19","hgnc_symbol":"SLC25A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73269073-73285591","ensembl_id":"ENSG00000125454"}},"GRch38":{"90":{"location":"17:75272981-75289510","ensembl_id":"ENSG00000125454"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"SLC25A19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301539","31095747"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710)","Microcephaly, Amish type (MIM#607196)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PDP","PDH","PPM2A"],"biotype":"protein_coding","hgnc_id":"HGNC:9279","gene_name":"pyruvate dehyrogenase phosphatase catalytic subunit 1","omim_gene":["605993"],"alias_name":["protein phosphatase, Mg2+/Mn2+ dependent 2A"],"gene_symbol":"PDP1","hgnc_symbol":"PDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94870035-94938294","ensembl_id":"ENSG00000164951"}},"GRch38":{"90":{"location":"8:93857807-93926066","ensembl_id":"ENSG00000164951"}}},"hgnc_date_symbol_changed":"2009-06-12"},"entity_type":"gene","entity_name":"PDP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15855260","31392110","19184109"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyruvate dehydrogenase phosphatase deficiency,MIM#608782"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSNB1E"],"biotype":null,"hgnc_id":"HGNC:31371","gene_name":"G protein-coupled receptor 179","omim_gene":["614515"],"alias_name":null,"gene_symbol":"GPR179","hgnc_symbol":"GPR179","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:36481413-36499730","ensembl_id":"ENSG00000188888"}},"GRch38":{"90":{"location":"17:38325530-38343847","ensembl_id":"ENSG00000277399"}}},"hgnc_date_symbol_changed":"2006-02-16"},"entity_type":"gene","entity_name":"GPR179","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22325361","22325362"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["GPR179-related retinopathy (MONDO:0800396)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PGK","PKG"],"biotype":"protein_coding","hgnc_id":"HGNC:9414","gene_name":"protein kinase, cGMP-dependent, type I","omim_gene":["176894"],"alias_name":null,"gene_symbol":"PRKG1","hgnc_symbol":"PRKG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:52750945-54058110","ensembl_id":"ENSG00000185532"}},"GRch38":{"90":{"location":"10:50991358-52298350","ensembl_id":"ENSG00000185532"}}},"hgnc_date_symbol_changed":"1991-07-17"},"entity_type":"gene","entity_name":"PRKG1","confidence_level":"2","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","ClinGen"],"phenotypes":["Aortic aneurysm, familial thoracic 8, MIM#615436"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cardiac","treatable"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PDS"],"biotype":"protein_coding","hgnc_id":"HGNC:8818","gene_name":"solute carrier family 26 member 4","omim_gene":["605646"],"alias_name":["pendrin"],"gene_symbol":"SLC26A4","hgnc_symbol":"SLC26A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107301080-107358254","ensembl_id":"ENSG00000091137"}},"GRch38":{"90":{"location":"7:107660635-107717809","ensembl_id":"ENSG00000091137"}}},"hgnc_date_symbol_changed":"1997-10-27"},"entity_type":"gene","entity_name":"SLC26A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301640"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791","Pendred syndrome 274600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cernunnos","XLF","FLJ12610"],"biotype":"protein_coding","hgnc_id":"HGNC:25737","gene_name":"non-homologous end joining factor 1","omim_gene":["611290"],"alias_name":["XRCC4-like factor"],"gene_symbol":"NHEJ1","hgnc_symbol":"NHEJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219940039-220025587","ensembl_id":"ENSG00000187736"}},"GRch38":{"90":{"location":"2:219075317-219160865","ensembl_id":"ENSG00000187736"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"NHEJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32299270"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrothrombocytopaenia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1208","MGC4170"],"biotype":"protein_coding","hgnc_id":"HGNC:29670","gene_name":"N-acetylglucosamine-1-phosphate transferase alpha and beta subunits","omim_gene":["607840"],"alias_name":null,"gene_symbol":"GNPTAB","hgnc_symbol":"GNPTAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102139275-102224716","ensembl_id":"ENSG00000111670"}},"GRch38":{"90":{"location":"12:101745497-101830938","ensembl_id":"ENSG00000111670"}}},"hgnc_date_symbol_changed":"2005-09-11"},"entity_type":"gene","entity_name":"GNPTAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mucolipidosis III alpha/beta MIM#252600","Mucolipidosis II alpha/beta MIM#252500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP70","ZWS2"],"biotype":"protein_coding","hgnc_id":"HGNC:67","gene_name":"ATP binding cassette subfamily D member 3","omim_gene":["170995"],"alias_name":null,"gene_symbol":"ABCD3","hgnc_symbol":"ABCD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:94883933-94984222","ensembl_id":"ENSG00000117528"}},"GRch38":{"90":{"location":"1:94418455-94518666","ensembl_id":"ENSG00000117528"}}},"hgnc_date_symbol_changed":"1992-03-03"},"entity_type":"str","entity_name":"ABCD3_OPDM_GCC","confidence_level":"3","penetrance":null,"publications":["39068203"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oculopharyngodistal myopathy 5, MIM# 621446"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCC","chromosome":"1","grch37_coordinates":[94883977,94883998],"grch38_coordinates":[94418421,94418442],"normal_repeats":50,"pathogenic_repeats":118,"tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4739","version_created":"2026-04-12T14:08:16.491946+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}