{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=118","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=116","results":[{"gene_data":{"alias":["Dnchc1","HL-3","p22","DHC1","CMT2O"],"biotype":"protein_coding","hgnc_id":"HGNC:2961","gene_name":"dynein cytoplasmic 1 heavy chain 1","omim_gene":["600112"],"alias_name":null,"gene_symbol":"DYNC1H1","hgnc_symbol":"DYNC1H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:102430865-102517129","ensembl_id":"ENSG00000197102"}},"GRch38":{"90":{"location":"14:101964528-102050792","ensembl_id":"ENSG00000197102"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC1H1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Royal Melbourne Hospital","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spinal muscular atrophy, lower extremity-predominant 1, AD, MIM# 158600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28306229","25703627","26373698"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 (MIM# 601776)"],"mode_of_inheritance":"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":["WASP","WASPA"],"biotype":"protein_coding","hgnc_id":"HGNC:12731","gene_name":"Wiskott-Aldrich syndrome","omim_gene":["300392"],"alias_name":["eczema-thrombocytopenia"],"gene_symbol":"WAS","hgnc_symbol":"WAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48534985-48549818","ensembl_id":"ENSG00000015285"}},"GRch38":{"90":{"location":"X:48676596-48691427","ensembl_id":"ENSG00000015285"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"WAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Wiskott-Aldrich syndrome, MIM# 301000","Thrombocytopenia, X-linked, MIM# 313900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":56,"hash_id":null,"name":"Bone Marrow Failure","disease_group":"Haematological disorders","disease_sub_group":"","description":"Bone marrow failure (BMF) refers to the decreased production of one or more major haematopoietic lineages which leads to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12776","gene_name":"Wnt family member 11","omim_gene":["603699"],"alias_name":null,"gene_symbol":"WNT11","hgnc_symbol":"WNT11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:75897369-75921780","ensembl_id":"ENSG00000085741"}},"GRch38":{"90":{"location":"11:76186325-76210736","ensembl_id":"ENSG00000085741"}}},"hgnc_date_symbol_changed":"1998-08-06"},"entity_type":"gene","entity_name":"WNT11","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40200693"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Laterality defects","complex congenital heart defects","renal defects"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","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":["PURALPHA","PUR1","PUR-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:9701","gene_name":"purine rich element binding protein A","omim_gene":["600473"],"alias_name":null,"gene_symbol":"PURA","hgnc_symbol":"PURA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:139487362-139496321","ensembl_id":"ENSG00000185129"}},"GRch38":{"90":{"location":"5:140107777-140125619","ensembl_id":"ENSG00000185129"}}},"hgnc_date_symbol_changed":"1993-10-19"},"entity_type":"gene","entity_name":"PURA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34077496"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (OMIM 616158)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Crouzon syndrome with acanthosis nigricans, MIM# 612247","Muenke syndrome, MIM# 602849"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. 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It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"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":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18034870","23812909","26942290"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Encephalocraniocutaneous lipomatosis, somatic mosaic 613001","Hartsfield syndrome 615465","Hypogonadotropic hypogonadism 2 with or without anosmia 147950","Osteoglophonic dysplasia 166250"],"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":["TSP1","THBS","TSP","THBS-1","TSP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:11785","gene_name":"thrombospondin 1","omim_gene":["188060"],"alias_name":["thrombospondin-1p180"],"gene_symbol":"THBS1","hgnc_symbol":"THBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:39873280-39891667","ensembl_id":"ENSG00000137801"}},"GRch38":{"90":{"location":"15:39581079-39599466","ensembl_id":"ENSG00000137801"}}},"hgnc_date_symbol_changed":"1989-10-10"},"entity_type":"gene","entity_name":"THBS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36453543"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital glaucoma MONDO:0020366, THBS1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pfeiffer syndrome, MIM# 101600"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; 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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":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22282472","28102635","27434533"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 16, MIM# 614465","MONDO:0013764"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HDCMC04P"],"biotype":"protein_coding","hgnc_id":"HGNC:18541","gene_name":"lysine methyltransferase 2E","omim_gene":["608444"],"alias_name":null,"gene_symbol":"KMT2E","hgnc_symbol":"KMT2E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:104654626-104754808","ensembl_id":"ENSG00000005483"}},"GRch38":{"90":{"location":"7:105014179-105114361","ensembl_id":"ENSG00000005483"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv3.1"],"biotype":"protein_coding","hgnc_id":"HGNC:6233","gene_name":"potassium voltage-gated channel subfamily C member 1","omim_gene":["176258"],"alias_name":null,"gene_symbol":"KCNC1","hgnc_symbol":"KCNC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17756359-17804602","ensembl_id":"ENSG00000129159"}},"GRch38":{"90":{"location":"11:17734774-17856804","ensembl_id":"ENSG00000129159"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25401298","28145425","31353862"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy, progressive myoclonic 7 (MIM#616187)","Intellectual disability","Movement disorders"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["TRF3","TBP2"],"biotype":"protein_coding","hgnc_id":"HGNC:19841","gene_name":"TATA-box binding protein like 2","omim_gene":["608964"],"alias_name":null,"gene_symbol":"TBPL2","hgnc_symbol":"TBPL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55880259-55923444","ensembl_id":"ENSG00000182521"}},"GRch38":{"90":{"location":"14:55413541-55456726","ensembl_id":"ENSG00000182521"}}},"hgnc_date_symbol_changed":"2003-01-13"},"entity_type":"gene","entity_name":"TBPL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37804378","33966269","33893736","33541821"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Inherited oocyte maturation defect, MONDO:0014769, TBPL2-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12563048","10401001","28095071"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Mevalonic aciduria MIM#610377","Porokeratosis 3, multiple types, MIM# 175900"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["RhoH","TTF"],"biotype":"protein_coding","hgnc_id":"HGNC:686","gene_name":"ras homolog family member H","omim_gene":["602037"],"alias_name":null,"gene_symbol":"RHOH","hgnc_symbol":"RHOH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:40192673-40248587","ensembl_id":"ENSG00000168421"}},"GRch38":{"90":{"location":"4:40191053-40246967","ensembl_id":"ENSG00000168421"}}},"hgnc_date_symbol_changed":"2004-03-24"},"entity_type":"gene","entity_name":"RHOH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["22850876","27574848","38775840"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["{?Epidermodysplasia verruciformis, susceptibility to, 4}, MIM# 618307"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["MGC12676","KIAA1297","SPEGalpha","SPEGbeta","BPEG"],"biotype":"protein_coding","hgnc_id":"HGNC:16901","gene_name":"SPEG complex locus","omim_gene":["615950"],"alias_name":null,"gene_symbol":"SPEG","hgnc_symbol":"SPEG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220299568-220363009","ensembl_id":"ENSG00000072195"}},"GRch38":{"90":{"location":"2:219434846-219498287","ensembl_id":"ENSG00000072195"}}},"hgnc_date_symbol_changed":"2006-04-27"},"entity_type":"gene","entity_name":"SPEG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25087613","31625632","30412272","30157964","29614691","29474540","28624463","26578207","25087613","32925938","33794647"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Centronuclear myopathy 5, MIM# 615959","Dilated cardiomyopathy"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["RNF162B","Berg36","ERF1","TIS11B","cMG1"],"biotype":"protein_coding","hgnc_id":"HGNC:1107","gene_name":"ZFP36 ring finger protein like 1","omim_gene":["601064"],"alias_name":null,"gene_symbol":"ZFP36L1","hgnc_symbol":"ZFP36L1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:69254377-69263190","ensembl_id":"ENSG00000185650"}},"GRch38":{"90":{"location":"14:68787660-68796253","ensembl_id":"ENSG00000185650"}}},"hgnc_date_symbol_changed":"2001-11-23"},"entity_type":"gene","entity_name":"ZFP36L1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["34611029","22367205"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Oocyte maturation defect 13, MIM# 620154"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["HSRNASPH","ACO","prostinogen"],"biotype":"protein_coding","hgnc_id":"HGNC:20453","gene_name":"kallikrein related peptidase 15","omim_gene":["610601"],"alias_name":null,"gene_symbol":"KLK15","hgnc_symbol":"KLK15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:51328545-51340469","ensembl_id":"ENSG00000174562"}},"GRch38":{"90":{"location":"19:50825289-50837213","ensembl_id":"ENSG00000174562"}}},"hgnc_date_symbol_changed":"2004-04-20"},"entity_type":"gene","entity_name":"KLK15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40949095"],"evidence":["Expert Review Red","Other"],"phenotypes":["hypermobile Ehlers-Danlos syndrome MONDO:0007523"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:1950","gene_name":"cholinergic receptor muscarinic 1","omim_gene":["118510"],"alias_name":["acetylcholine receptor, muscarinic 1"],"gene_symbol":"CHRM1","hgnc_symbol":"CHRM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:62676151-62689279","ensembl_id":"ENSG00000168539"}},"GRch38":{"90":{"location":"11:62908679-62921807","ensembl_id":"ENSG00000168539"}}},"hgnc_date_symbol_changed":"1988-08-03"},"entity_type":"gene","entity_name":"CHRM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34212451","31981491","12483218"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental delay","intellectual disability","autism"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["DD4","HAKRA","C11","3-alpha-HSD","CDR","MGC22581"],"biotype":"protein_coding","hgnc_id":"HGNC:387","gene_name":"aldo-keto reductase family 1 member C4","omim_gene":["600451"],"alias_name":["chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"],"gene_symbol":"AKR1C4","hgnc_symbol":"AKR1C4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:5237425-5260912","ensembl_id":"ENSG00000198610"}},"GRch38":{"90":{"location":"10:5195462-5218949","ensembl_id":"ENSG00000198610"}}},"hgnc_date_symbol_changed":"1993-08-26"},"entity_type":"gene","entity_name":"AKR1C4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21802064"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{46XY sex reversal 8, modifier of}, MIM# 614279"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["PI4K-BETA","pi4K92"],"biotype":"protein_coding","hgnc_id":"HGNC:8984","gene_name":"phosphatidylinositol 4-kinase beta","omim_gene":["602758"],"alias_name":null,"gene_symbol":"PI4KB","hgnc_symbol":"PI4KB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151264273-151300191","ensembl_id":"ENSG00000143393"}},"GRch38":{"90":{"location":"1:151291797-151327715","ensembl_id":"ENSG00000143393"}}},"hgnc_date_symbol_changed":"2007-08-02"},"entity_type":"gene","entity_name":"PI4KB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33358777"],"evidence":["Expert Review Green","Literature"],"phenotypes":["hearing loss, autosomal dominant 87 MONDO:0859525"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:1912","gene_name":"choline O-acetyltransferase","omim_gene":["118490"],"alias_name":null,"gene_symbol":"CHAT","hgnc_symbol":"CHAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50817141-50901925","ensembl_id":"ENSG00000070748"}},"GRch38":{"90":{"location":"10:49609095-49665104","ensembl_id":"ENSG00000070748"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"CHAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11172068","12756141","31192527","29518833","29189923"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital myasthenics syndrome associated with episodic apnea","Myasthenic syndrome, congenital, 6, presynaptic, 254210"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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:18622","gene_name":"component of oligomeric golgi complex 7","omim_gene":["606978"],"alias_name":null,"gene_symbol":"COG7","hgnc_symbol":"COG7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23399814-23464501","ensembl_id":"ENSG00000168434"}},"GRch38":{"90":{"location":"16:23388493-23453180","ensembl_id":"ENSG00000168434"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"COG7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15107842","17356545","28883096"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIe , MIM#608779"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["CP1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2597","gene_name":"cytochrome P450 family 1 subfamily B member 1","omim_gene":["601771"],"alias_name":null,"gene_symbol":"CYP1B1","hgnc_symbol":"CYP1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38294116-38337044","ensembl_id":"ENSG00000138061"}},"GRch38":{"90":{"location":"2:38066973-38109902","ensembl_id":"ENSG00000138061"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"CYP1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21730847","27243976","9463332","10655546","12372064","21081970"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anterior segment dysgenesis 6, multiple subtypes, 617315","Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"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":["B8"],"biotype":"protein_coding","hgnc_id":"HGNC:7685","gene_name":"NADH:ubiquinone oxidoreductase subunit A2","omim_gene":["602137"],"alias_name":["complex I B8 subunit"],"gene_symbol":"NDUFA2","hgnc_symbol":"NDUFA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140018325-140027370","ensembl_id":"ENSG00000131495"}},"GRch38":{"90":{"location":"5:140638740-140647785","ensembl_id":"ENSG00000131495"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28857146","32154054","18513682"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Eg5","HKSP","TRIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:6388","gene_name":"kinesin family member 11","omim_gene":["148760"],"alias_name":null,"gene_symbol":"KIF11","hgnc_symbol":"KIF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:94353043-94415150","ensembl_id":"ENSG00000138160"}},"GRch38":{"90":{"location":"10:92593286-92655395","ensembl_id":"ENSG00000138160"}}},"hgnc_date_symbol_changed":"2003-01-10"},"entity_type":"gene","entity_name":"KIF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22284827","25115524","25124931","27212378","32730767","31993640","25996076"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation, MIM# 152950","MONDO:0007918"],"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":["PSK-J3"],"biotype":"protein_coding","hgnc_id":"HGNC:1773","gene_name":"cyclin dependent kinase 4","omim_gene":["123829"],"alias_name":null,"gene_symbol":"CDK4","hgnc_symbol":"CDK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58141510-58149796","ensembl_id":"ENSG00000135446"}},"GRch38":{"90":{"location":"12:57747727-57756013","ensembl_id":"ENSG00000135446"}}},"hgnc_date_symbol_changed":"1993-07-28"},"entity_type":"gene","entity_name":"CDK4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["40210435"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly 31, primary, autosomal recessive, MIM# 621507"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FER1L1"],"biotype":"protein_coding","hgnc_id":"HGNC:3097","gene_name":"dysferlin","omim_gene":["603009"],"alias_name":["fer-1-like family member 1"],"gene_symbol":"DYSF","hgnc_symbol":"DYSF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71680852-71913898","ensembl_id":"ENSG00000135636"}},"GRch38":{"90":{"location":"2:71453722-71686768","ensembl_id":"ENSG00000135636"}}},"hgnc_date_symbol_changed":"1994-03-24"},"entity_type":"gene","entity_name":"DYSF","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":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEPPK"],"biotype":"protein_coding","hgnc_id":"HGNC:6423","gene_name":"keratin 16","omim_gene":["148067"],"alias_name":["focal non-epidermolytic palmoplantar keratoderma"],"gene_symbol":"KRT16","hgnc_symbol":"KRT16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39766030-39772151","ensembl_id":"ENSG00000186832"}},"GRch38":{"90":{"location":"17:41609778-41615899","ensembl_id":"ENSG00000186832"}}},"hgnc_date_symbol_changed":"1992-12-14"},"entity_type":"gene","entity_name":"KRT16","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8595410","10839714"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000)","Pachyonychia congenita 1 (MIM#167200)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":153,"hash_id":null,"name":"Palmoplantar Keratoderma and Erythrokeratoderma","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp Palmoplantar Keratoderma panel, and all discrepancies have been reviewed and resolved by VCGS and GHQ.","status":"public","version":"0.144","version_created":"2026-03-08T22:20:02.332483+11:00","relevant_disorders":["Palmoplantar keratoderma","HP:0000982; Erythrokeratoderma","MONDO:0019270"],"stats":{"number_of_genes":73,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11600","gene_name":"T-box 22","omim_gene":["300307"],"alias_name":null,"gene_symbol":"TBX22","hgnc_symbol":"TBX22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:79270255-79287268","ensembl_id":"ENSG00000122145"}},"GRch38":{"90":{"location":"X:80014756-80031769","ensembl_id":"ENSG00000122145"}}},"hgnc_date_symbol_changed":"2000-05-05"},"entity_type":"gene","entity_name":"TBX22","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":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.64","version_created":"2026-04-12T14:13:00.975329+10:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":55,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRK-3","T-ALK","BMPR3","BMPR-II"],"biotype":"protein_coding","hgnc_id":"HGNC:1078","gene_name":"bone morphogenetic protein receptor type 2","omim_gene":["600799"],"alias_name":null,"gene_symbol":"BMPR2","hgnc_symbol":"BMPR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:203241659-203432474","ensembl_id":"ENSG00000204217"}},"GRch38":{"90":{"location":"2:202376936-202567751","ensembl_id":"ENSG00000204217"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"BMPR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27587546","24355637","22632830","11115378"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Expert list","Expert list"],"phenotypes":["Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600","Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600","Pulmonary venoocclusive disease 1 MIM#265450"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MFE-2","DBP","SDR8C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5213","gene_name":"hydroxysteroid 17-beta dehydrogenase 4","omim_gene":["601860"],"alias_name":["17beta-estradiol dehydrogenase type IV","peroxisomal multifunctional protein 2","17-beta-HSD IV","17-beta-hydroxysteroid dehydrogenase 4","D-bifunctional protein, peroxisomal","D-3-hydroxyacyl-CoA dehydratase","3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase","beta-keto-reductase","beta-hydroxyacyl dehydrogenase","short chain dehydrogenase/reductase family 8C, member 1"],"gene_symbol":"HSD17B4","hgnc_symbol":"HSD17B4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:118788138-118972894","ensembl_id":"ENSG00000133835"}},"GRch38":{"90":{"location":"5:119452443-119637199","ensembl_id":"ENSG00000133835"}}},"hgnc_date_symbol_changed":"1994-09-14"},"entity_type":"gene","entity_name":"HSD17B4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27790638"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["D-bifunctional protein deficiency, AR (MIM#261515)","Perrault syndrome 1, AR (MIM#233400)"],"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":["KIAA0045"],"biotype":"protein_coding","hgnc_id":"HGNC:12306","gene_name":"thyroid hormone receptor interactor 12","omim_gene":["604506"],"alias_name":null,"gene_symbol":"TRIP12","hgnc_symbol":"TRIP12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:230628554-230787955","ensembl_id":"ENSG00000153827"}},"GRch38":{"90":{"location":"2:229763838-229923239","ensembl_id":"ENSG00000153827"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP12","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36275919","32424948"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 49\tMIM#617752"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["D6S230E","CCT1","Ccta"],"biotype":"protein_coding","hgnc_id":"HGNC:11655","gene_name":"t-complex 1","omim_gene":["186980"],"alias_name":null,"gene_symbol":"TCP1","hgnc_symbol":"TCP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:160199530-160210781","ensembl_id":"ENSG00000120438"}},"GRch38":{"90":{"location":"6:159778498-159789749","ensembl_id":"ENSG00000120438"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TCP1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["39480921"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with polymicrogyria and seizures, MIM# 621021"],"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":["EMAP","HuEMAP","ELP79"],"biotype":"protein_coding","hgnc_id":"HGNC:3330","gene_name":"echinoderm microtubule associated protein like 1","omim_gene":["602033"],"alias_name":null,"gene_symbol":"EML1","hgnc_symbol":"EML1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:100204030-100408397","ensembl_id":"ENSG00000066629"}},"GRch38":{"90":{"location":"14:99737693-99942060","ensembl_id":"ENSG00000066629"}}},"hgnc_date_symbol_changed":"2002-02-15"},"entity_type":"gene","entity_name":"EML1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31710781"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Band heterotopia (MIM# 600348)"],"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":["FGF-13"],"biotype":"protein_coding","hgnc_id":"HGNC:3673","gene_name":"fibroblast growth factor 17","omim_gene":["603725"],"alias_name":null,"gene_symbol":"FGF17","hgnc_symbol":"FGF17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:21899909-21906320","ensembl_id":"ENSG00000158815"}},"GRch38":{"90":{"location":"8:22042398-22048809","ensembl_id":"ENSG00000158815"}}},"hgnc_date_symbol_changed":"1998-12-22"},"entity_type":"gene","entity_name":"FGF17","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":["caprin-1","RNG105"],"biotype":"protein_coding","hgnc_id":"HGNC:6743","gene_name":"cell cycle associated protein 1","omim_gene":["601178"],"alias_name":["cytoplasmic activation/proliferation-associated protein-1"],"gene_symbol":"CAPRIN1","hgnc_symbol":"CAPRIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:34073230-34122703","ensembl_id":"ENSG00000135387"}},"GRch38":{"90":{"location":"11:34051683-34101156","ensembl_id":"ENSG00000135387"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CAPRIN1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36136249"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25986071"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, X-linked 5, MIM# 300614"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D3S3194","KIAA0030","BM28","cdc19","DFNA70"],"biotype":"protein_coding","hgnc_id":"HGNC:6944","gene_name":"minichromosome maintenance complex component 2","omim_gene":["116945"],"alias_name":["mitotin"],"gene_symbol":"MCM2","hgnc_symbol":"MCM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:127317066-127341276","ensembl_id":"ENSG00000073111"}},"GRch38":{"90":{"location":"3:127598223-127622436","ensembl_id":"ENSG00000073111"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"MCM2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["26196677","35652205","40069133"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 70, MIM# 616968"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. 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This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ARC","NOP30","MYP","CARD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7869","gene_name":"nucleolar protein 3","omim_gene":["605235"],"alias_name":null,"gene_symbol":"NOL3","hgnc_symbol":"NOL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67204057-67209643","ensembl_id":"ENSG00000140939"}},"GRch38":{"90":{"location":"16:67170154-67175735","ensembl_id":"ENSG00000140939"}}},"hgnc_date_symbol_changed":"1999-01-13"},"entity_type":"gene","entity_name":"NOL3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22926851"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Myoclonus, familial cortical"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CGI-132"],"biotype":"protein_coding","hgnc_id":"HGNC:14048","gene_name":"mitochondrial ribosomal protein S16","omim_gene":["609204"],"alias_name":null,"gene_symbol":"MRPS16","hgnc_symbol":"MRPS16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:75006510-75012451","ensembl_id":"ENSG00000182180"}},"GRch38":{"90":{"location":"10:73248843-73252693","ensembl_id":"ENSG00000182180"}}},"hgnc_date_symbol_changed":"2001-02-28"},"entity_type":"gene","entity_name":"MRPS16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert list","Expert Review Red","Australian Genomcis Health Alliance Leukodystrophy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 2, 610498"],"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. 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The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SCARMD2","DAGA4","SCG3","DMDA","TYPE","A4","MGC130048"],"biotype":"protein_coding","hgnc_id":"HGNC:10809","gene_name":"sarcoglycan gamma","omim_gene":["608896"],"alias_name":["Maghrebian myopathy (autosomal recessive)","35kD dystrophin-associated glycoprotein","limb girdle muscular dystrophy 2C (Duchenne-like muscular dystrophy, autosomal recessive)","gamma sarcoglycan"],"gene_symbol":"SGCG","hgnc_symbol":"SGCG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23755091-23899304","ensembl_id":"ENSG00000102683"}},"GRch38":{"90":{"location":"13:23180952-23325165","ensembl_id":"ENSG00000102683"}}},"hgnc_date_symbol_changed":"1997-07-22"},"entity_type":"gene","entity_name":"SGCG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30838351","25802879"],"evidence":["Expert Review Green","Expert Review","Royal Melbourne Hospital"],"phenotypes":["Muscular dystrophy, limb-girdle, type 2C, 253700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hFrtz","fritz","BBS15"],"biotype":"protein_coding","hgnc_id":"HGNC:28027","gene_name":"WD repeat containing planar cell polarity effector","omim_gene":["613580"],"alias_name":null,"gene_symbol":"WDPCP","hgnc_symbol":"WDPCP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:63348518-64054977","ensembl_id":"ENSG00000143951"}},"GRch38":{"90":{"location":"2:63121383-63827843","ensembl_id":"ENSG00000143951"}}},"hgnc_date_symbol_changed":"2011-02-01"},"entity_type":"gene","entity_name":"WDPCP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":[],"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":["EIF2B","EIF-2Bbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:3258","gene_name":"eukaryotic translation initiation factor 2B subunit beta","omim_gene":["606454"],"alias_name":null,"gene_symbol":"EIF2B2","hgnc_symbol":"EIF2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:75469614-75476292","ensembl_id":"ENSG00000119718"}},"GRch38":{"90":{"location":"14:75002911-75012366","ensembl_id":"ENSG00000119718"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter, 603896 (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":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 16, 614465 (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":["FLJ13094","FLJ34211","PR46b","CILD17"],"biotype":"protein_coding","hgnc_id":"HGNC:32700","gene_name":"coiled-coil domain containing 103","omim_gene":["614677"],"alias_name":null,"gene_symbol":"CCDC103","hgnc_symbol":"CCDC103","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42976510-42982758","ensembl_id":"ENSG00000167131"}},"GRch38":{"90":{"location":"17:44899142-44905390","ensembl_id":"ENSG00000167131"}}},"hgnc_date_symbol_changed":"2006-04-25"},"entity_type":"gene","entity_name":"CCDC103","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 17, 614679 (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:753","gene_name":"asparagine synthetase (glutamine-hydrolyzing)","omim_gene":["108370"],"alias_name":null,"gene_symbol":"ASNS","hgnc_symbol":"ASNS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:97481430-97501854","ensembl_id":"ENSG00000070669"}},"GRch38":{"90":{"location":"7:97852118-97872542","ensembl_id":"ENSG00000070669"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ASNS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Asparagine synthetase deficiency, 615574 (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":["trnH"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7487","gene_name":"mitochondrially encoded tRNA histidine","omim_gene":["590040"],"alias_name":null,"gene_symbol":"MT-TH","hgnc_symbol":"MT-TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}},"GRch38":{"90":{"location":"MT:12138-12206","ensembl_id":"ENSG00000210176"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12682337","14967777","15111688","21704194","21931169","23696415","35092007","24920829","21704194"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TH-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CMPD2"],"biotype":"protein_coding","hgnc_id":"HGNC:11949","gene_name":"troponin T2, cardiac type","omim_gene":["191045"],"alias_name":null,"gene_symbol":"TNNT2","hgnc_symbol":"TNNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201328136-201346890","ensembl_id":"ENSG00000118194"}},"GRch38":{"90":{"location":"1:201359008-201377762","ensembl_id":"ENSG00000118194"}}},"hgnc_date_symbol_changed":"1993-09-27"},"entity_type":"gene","entity_name":"TNNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Cardiomyopathy, dilated, 1D","Cardiomyopathy, familial hypertrophic, 2","Hypertrophic cardiomyopathy","Left ventricular noncompaction 6,"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["KRAS1"],"biotype":"protein_coding","hgnc_id":"HGNC:6407","gene_name":"KRAS proto-oncogene, GTPase","omim_gene":["190070"],"alias_name":null,"gene_symbol":"KRAS","hgnc_symbol":"KRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:25357723-25403870","ensembl_id":"ENSG00000133703"}},"GRch38":{"90":{"location":"12:25204789-25250936","ensembl_id":"ENSG00000133703"}}},"hgnc_date_symbol_changed":"2005-01-24"},"entity_type":"gene","entity_name":"KRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Noonan syndrome"],"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":["TRK","TRKA","MTC"],"biotype":"protein_coding","hgnc_id":"HGNC:8031","gene_name":"neurotrophic receptor tyrosine kinase 1","omim_gene":["191315"],"alias_name":["high affinity nerve growth factor receptor"],"gene_symbol":"NTRK1","hgnc_symbol":"NTRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:156785432-156851642","ensembl_id":"ENSG00000198400"}},"GRch38":{"90":{"location":"1:156815640-156881850","ensembl_id":"ENSG00000198400"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"NTRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Congenital insensitivity to pain with anhidrosis MIM#256800"],"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":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Noonan syndrome"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3528","gene_name":"coagulation factor X","omim_gene":["613872"],"alias_name":null,"gene_symbol":"F10","hgnc_symbol":"F10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:113777128-113803843","ensembl_id":"ENSG00000126218"}},"GRch38":{"90":{"location":"13:113122814-113149529","ensembl_id":"ENSG00000126218"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Factor X deficiency, MIM#\t227600"],"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":[]},{"gene_data":{"alias":["HBA-T2"],"biotype":"protein_coding","hgnc_id":"HGNC:4824","gene_name":"hemoglobin subunit alpha 2","omim_gene":["141850"],"alias_name":null,"gene_symbol":"HBA2","hgnc_symbol":"HBA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:222846-223709","ensembl_id":"ENSG00000188536"}},"GRch38":{"90":{"location":"16:172847-173710","ensembl_id":"ENSG00000188536"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HBA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Thalassemia, alpha"],"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":["S24"],"biotype":"protein_coding","hgnc_id":"HGNC:10411","gene_name":"ribosomal protein S24","omim_gene":["602412"],"alias_name":null,"gene_symbol":"RPS24","hgnc_symbol":"RPS24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79793518-79816570","ensembl_id":"ENSG00000138326"}},"GRch38":{"90":{"location":"10:78033760-78056812","ensembl_id":"ENSG00000138326"}}},"hgnc_date_symbol_changed":"1990-08-22"},"entity_type":"gene","entity_name":"RPS24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17186470","23812780","25946618"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anaemia 3, MIM# 610629"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3579","gene_name":"fumarylacetoacetate hydrolase","omim_gene":["613871"],"alias_name":["fumarylacetoacetase"],"gene_symbol":"FAH","hgnc_symbol":"FAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80444832-80479288","ensembl_id":"ENSG00000103876"}},"GRch38":{"90":{"location":"15:80152490-80186946","ensembl_id":"ENSG00000103876"}}},"hgnc_date_symbol_changed":"1989-06-07"},"entity_type":"gene","entity_name":"FAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15759101"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Tyrosinemia, type I, MIM#276700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HOGA"],"biotype":"protein_coding","hgnc_id":"HGNC:8091","gene_name":"ornithine aminotransferase","omim_gene":["613349"],"alias_name":["Ornithine aminotransferase","ornithine aminotransferase precursor","gyrate atrophy"],"gene_symbol":"OAT","hgnc_symbol":"OAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:126085872-126107545","ensembl_id":"ENSG00000065154"}},"GRch38":{"90":{"location":"10:124397303-124418976","ensembl_id":"ENSG00000065154"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33068755","1618792","2220818","3339136","3417397","2916581","1737786","33463379"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6716","gene_name":"latent transforming growth factor beta binding protein 3","omim_gene":["602090"],"alias_name":null,"gene_symbol":"LTBP3","hgnc_symbol":"LTBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65306276-65326401","ensembl_id":"ENSG00000168056"}},"GRch38":{"90":{"location":"11:65538805-65558930","ensembl_id":"ENSG00000168056"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28084688","25669657","19344874","25899461","29625025"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Dental anomalies and short stature, 601216","Amelogenesis Imperfecta","syndromic AI with brachyolmia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["IGF1A","IGFI","IGF-I"],"biotype":"protein_coding","hgnc_id":"HGNC:5464","gene_name":"insulin like growth factor 1","omim_gene":["147440"],"alias_name":["somatomedin C"],"gene_symbol":"IGF1","hgnc_symbol":"IGF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102789645-102874423","ensembl_id":"ENSG00000017427"}},"GRch38":{"90":{"location":"12:102395867-102480645","ensembl_id":"ENSG00000017427"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IGF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8857020","15769976","14684690","31539878","28768959","34125705","22832530"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Growth retardation with deafness and mental retardation due to IGF1 deficiency, MIM # 608747"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPAF","AFG2"],"biotype":"protein_coding","hgnc_id":"HGNC:18119","gene_name":"spermatogenesis associated 5","omim_gene":["613940"],"alias_name":["ATPase family gene 2 homolog (S. cerevisiae)"],"gene_symbol":"SPATA5","hgnc_symbol":"SPATA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:123844229-124240605","ensembl_id":"ENSG00000145375"}},"GRch38":{"90":{"location":"4:122923074-123319450","ensembl_id":"ENSG00000145375"}}},"hgnc_date_symbol_changed":"2002-02-04"},"entity_type":"gene","entity_name":"SPATA5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30009132","29343804","26299366"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature","Genetic Health Queensland"],"phenotypes":["Epilepsy, hearing loss, and mental retardation syndrome MIM#616577"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":["KIAA1784","KIAA1987","FANCP"],"biotype":"protein_coding","hgnc_id":"HGNC:23845","gene_name":"SLX4 structure-specific endonuclease subunit","omim_gene":["613278"],"alias_name":["Fanconi anemia, complementation group P"],"gene_symbol":"SLX4","hgnc_symbol":"SLX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3631182-3661599","ensembl_id":"ENSG00000188827"}},"GRch38":{"90":{"location":"16:3581181-3611598","ensembl_id":"ENSG00000188827"}}},"hgnc_date_symbol_changed":"2010-09-13"},"entity_type":"gene","entity_name":"SLX4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21240277","21240275"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group P, MIM# 613951","MONDO:0013499"],"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":["p532","p619"],"biotype":"protein_coding","hgnc_id":"HGNC:4867","gene_name":"HECT and RLD domain containing E3 ubiquitin protein ligase family member 1","omim_gene":["605109"],"alias_name":null,"gene_symbol":"HERC1","hgnc_symbol":"HERC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:63900817-64126141","ensembl_id":"ENSG00000103657"}},"GRch38":{"90":{"location":"15:63608618-63833942","ensembl_id":"ENSG00000103657"}}},"hgnc_date_symbol_changed":"1999-01-07"},"entity_type":"gene","entity_name":"HERC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28323226","27108999","26153217","26138117"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Macrocephaly, dysmorphic facies, and psychomotor retardation - MIM#617011"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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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:8783","gene_name":"phosphodiesterase 4D","omim_gene":["600129"],"alias_name":["phosphodiesterase E3 dunce homolog (Drosophila)"],"gene_symbol":"PDE4D","hgnc_symbol":"PDE4D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:58264865-59817947","ensembl_id":"ENSG00000113448"}},"GRch38":{"90":{"location":"5:58969038-60522120","ensembl_id":"ENSG00000113448"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"PDE4D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Acrodysostosis 2, with or without hormone resistance, MIM# 614613"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2188","gene_name":"collagen type XII alpha 1 chain","omim_gene":["120320"],"alias_name":["collagen type XII proteoglycan"],"gene_symbol":"COL12A1","hgnc_symbol":"COL12A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:75794042-75915767","ensembl_id":"ENSG00000111799"}},"GRch38":{"90":{"location":"6:75084326-75206051","ensembl_id":"ENSG00000111799"}}},"hgnc_date_symbol_changed":"1992-03-24"},"entity_type":"gene","entity_name":"COL12A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24334604","24334769","21670218"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Ullrich congenital muscular dystrophy 2, 616470","Bethlem myopathy 2, 616471"],"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":["FLJ11752","NTKL-BP1","GO"],"biotype":"protein_coding","hgnc_id":"HGNC:25676","gene_name":"golgin, RAB6 interacting","omim_gene":["607983"],"alias_name":["gerodermia osteodysplastica","RAB6-interacting golgin"],"gene_symbol":"GORAB","hgnc_symbol":"GORAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:170501270-170522587","ensembl_id":"ENSG00000120370"}},"GRch38":{"90":{"location":"1:170532129-170553446","ensembl_id":"ENSG00000120370"}}},"hgnc_date_symbol_changed":"2009-02-13"},"entity_type":"gene","entity_name":"GORAB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19681135","9018419","18348262"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Geroderma osteodysplasticum, MIM#231070","MONDO:0009271"],"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":["MCCB"],"biotype":"protein_coding","hgnc_id":"HGNC:6937","gene_name":"methylcrotonoyl-CoA carboxylase 2","omim_gene":["609014"],"alias_name":["methylcrotonoyl-CoA carboxylase beta"],"gene_symbol":"MCCC2","hgnc_symbol":"MCCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70883115-70954531","ensembl_id":"ENSG00000131844"}},"GRch38":{"90":{"location":"5:71587288-71658704","ensembl_id":"ENSG00000131844"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","31730530","27604308","11181649"],"evidence":["Expert Review Green","Literature","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FPP","PFM","KIAA1788"],"biotype":"protein_coding","hgnc_id":"HGNC:450","gene_name":"ALX homeobox 4","omim_gene":["605420"],"alias_name":null,"gene_symbol":"ALX4","hgnc_symbol":"ALX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:44281994-44331716","ensembl_id":"ENSG00000052850"}},"GRch38":{"90":{"location":"11:44260444-44310166","ensembl_id":"ENSG00000052850"}}},"hgnc_date_symbol_changed":"2000-06-15"},"entity_type":"gene","entity_name":"ALX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Frontonasal dysplasia 2 MIM# 613451","Parietal foramina 2 MIM# 609597","{Craniosynostosis 5, susceptibility to} MIM#615529"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SERS"],"biotype":"protein_coding","hgnc_id":"HGNC:10537","gene_name":"seryl-tRNA synthetase","omim_gene":["607529"],"alias_name":["serine tRNA ligase 1, cytoplasmic"],"gene_symbol":"SARS","hgnc_symbol":"SARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109756540-109780791","ensembl_id":"ENSG00000031698"}},"GRch38":{"90":{"location":"1:109213918-109238169","ensembl_id":"ENSG00000031698"}}},"hgnc_date_symbol_changed":"1995-06-09"},"entity_type":"gene","entity_name":"SARS","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:34570399, PMID: 34194004"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MST1","KRS2","YSK3"],"biotype":"protein_coding","hgnc_id":"HGNC:11408","gene_name":"serine/threonine kinase 4","omim_gene":["604965"],"alias_name":["mammalian sterile 20-like 1","yeast Ste20-like","kinase responsive to stress 2"],"gene_symbol":"STK4","hgnc_symbol":"STK4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:43595115-43708600","ensembl_id":"ENSG00000101109"}},"GRch38":{"90":{"location":"20:44966474-45079959","ensembl_id":"ENSG00000101109"}}},"hgnc_date_symbol_changed":"1997-10-09"},"entity_type":"gene","entity_name":"STK4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22294732"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868"],"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":["Nav1.6","NaCh6","PN4","CerIII","CIAT"],"biotype":"protein_coding","hgnc_id":"HGNC:10596","gene_name":"sodium voltage-gated channel alpha subunit 8","omim_gene":["600702"],"alias_name":null,"gene_symbol":"SCN8A","hgnc_symbol":"SCN8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:51984050-52206648","ensembl_id":"ENSG00000196876"}},"GRch38":{"90":{"location":"12:51590266-51812864","ensembl_id":"ENSG00000196876"}}},"hgnc_date_symbol_changed":"1995-08-23"},"entity_type":"gene","entity_name":"SCN8A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Developmental and epileptic encephalopathy 13, MIM#614558"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD40L","TRAP","gp39","hCD40L","CD154"],"biotype":"protein_coding","hgnc_id":"HGNC:11935","gene_name":"CD40 ligand","omim_gene":["300386"],"alias_name":["CD40 antigen ligand","tumor necrosis factor (ligand) superfamily member 5","T-B cell-activating molecule","TNF-related activation protein","hyper-IgM syndrome"],"gene_symbol":"CD40LG","hgnc_symbol":"CD40LG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:135730352-135742549","ensembl_id":"ENSG00000102245"}},"GRch38":{"90":{"location":"X:136648193-136660390","ensembl_id":"ENSG00000102245"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40LG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Immunodeficiency, X-linked, with hyper-IgM MIM# 308230"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["UGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:24861","gene_name":"glucose-6-phosphatase catalytic subunit 3","omim_gene":["611045"],"alias_name":null,"gene_symbol":"G6PC3","hgnc_symbol":"G6PC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42148103-42153709","ensembl_id":"ENSG00000141349"}},"GRch38":{"90":{"location":"17:44070735-44076344","ensembl_id":"ENSG00000141349"}}},"hgnc_date_symbol_changed":"2004-03-29"},"entity_type":"gene","entity_name":"G6PC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Dursun syndrome, MIM# 612541","Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541"],"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":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebrotendinous xanthomatosis, MIM#213700"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7329","gene_name":"mutS homolog 6","omim_gene":["600678"],"alias_name":null,"gene_symbol":"MSH6","hgnc_symbol":"MSH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47922669-48037240","ensembl_id":"ENSG00000116062"}},"GRch38":{"90":{"location":"2:47695530-47810101","ensembl_id":"ENSG00000116062"}}},"hgnc_date_symbol_changed":"1995-08-29"},"entity_type":"gene","entity_name":"MSH6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Ovarian cancer, MONDO:0008170","Lynch syndrome 5, MONDO:0013710","Mismatch repair cancer syndrome 3, MONDO:0030841","Lynch syndrome 5, MIM#614350","Mismatch repair cancer syndrome 3, MIM#619097"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4374,"hash_id":null,"name":"Ovarian Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with ovarian cancer. \r\n\r\nFurther information on the testing criteria for ovarian cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3783-ovarian-cancer-epithelial-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with ovarian cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.6","version_created":"2025-11-20T12:29:37.870224+11:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4135","gene_name":"galactose-1-phosphate uridylyltransferase","omim_gene":["606999"],"alias_name":null,"gene_symbol":"GALT","hgnc_symbol":"GALT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34638130-34651032","ensembl_id":"ENSG00000213930"}},"GRch38":{"90":{"location":"9:34638133-34651035","ensembl_id":"ENSG00000213930"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GALT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39440457","19733849","34433538","31042289","34730073"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Galactosaemia, MIM# 230400","Premature ovarian failure"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.143","version_created":"2026-04-13T17:24:02.975530+10:00","relevant_disorders":[],"stats":{"number_of_genes":265,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5102","gene_name":"homeobox A13","omim_gene":["142959"],"alias_name":null,"gene_symbol":"HOXA13","hgnc_symbol":"HOXA13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27233122-27239725","ensembl_id":"ENSG00000106031"}},"GRch38":{"90":{"location":"7:27193503-27200106","ensembl_id":"ENSG00000106031"}}},"hgnc_date_symbol_changed":"1990-07-05"},"entity_type":"str","entity_name":"HOXA13_HFGS_GCN3","confidence_level":"3","penetrance":null,"publications":["10839976","12073020","33811808"],"evidence":["Expert list","Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Hand-foot-uterus syndrome MIM#140000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"7","grch37_coordinates":[27239298,27239351],"grch38_coordinates":[27199679,27199732],"normal_repeats":18,"pathogenic_repeats":24,"tags":["paediatric-onset"],"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":[]}}]}