{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=116","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=114","results":[{"gene_data":{"alias":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, 615290","Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291"],"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. 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They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MAG","EM9","MGC102762","MGC126218","MGC126219","TFIIH"],"biotype":"protein_coding","hgnc_id":"HGNC:3434","gene_name":"ERCC excision repair 2, TFIIH core complex helicase subunit","omim_gene":["126340"],"alias_name":["excision repair cross-complementing rodent repair deficiency, complementation group 2 protein","TFIIH basal transcription factor complex helicase XPB subunit"],"gene_symbol":"ERCC2","hgnc_symbol":"ERCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45853095-45874176","ensembl_id":"ENSG00000104884"}},"GRch38":{"90":{"location":"19:45349837-45370918","ensembl_id":"ENSG00000104884"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7849702","9758621","11443545","33733458"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cerebrooculofacioskeletal syndrome 2, MIM# 610756","MONDO:0012553","Trichothiodystrophy 1, photosensitive, MIM# 601675","MONDO:0011125","Xeroderma pigmentosum, group D, MIM# 278730","MONDO:0010212"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":79,"hash_id":null,"name":"Chromosome Breakage Disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created and is maintained by VCGS.\r\n\r\nChromosomal instability syndromes are a group of inherited disorders associated with chromosomal instability and breakage either spontaneously or in response to DNA damaging agents. They include ataxia telangiectasia, Bloom syndrome, Fanconi anaemia, Nijmegen breakage syndrome, immunodeficiency/centromeric instability/facial anomalies syndrome, Cockayne syndrome, trichothiodystrophy, xeroderma pigmentosum, DNA ligase I deficiency, and DNA recombinase repair defects.\r\n\r\nTypical features include impairment of growth, immunodeficiency, predisposition to infectious disease, and the risk of developing certain types of malignancies.","status":"public","version":"1.24","version_created":"2025-10-16T15:58:38.818741+11:00","relevant_disorders":["Chromosome breakage HP:0040012"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VASAP-60","GIIB"],"biotype":"protein_coding","hgnc_id":"HGNC:9411","gene_name":"protein kinase C substrate 80K-H","omim_gene":["177060"],"alias_name":["advanced glycation end-product receptor 2","glucosidase II beta subunit","glucosidase 2 subunit beta","hepatocystin"],"gene_symbol":"PRKCSH","hgnc_symbol":"PRKCSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11546109-11561783","ensembl_id":"ENSG00000130175"}},"GRch38":{"90":{"location":"19:11435288-11450968","ensembl_id":"ENSG00000130175"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"PRKCSH","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["19876928"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Polycystic liver disease 1 (MIM#174050)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13272","SAND1"],"biotype":"protein_coding","hgnc_id":"HGNC:28207","gene_name":"MON1 homolog A, secretory trafficking associated","omim_gene":["611464"],"alias_name":null,"gene_symbol":"MON1A","hgnc_symbol":"MON1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49946302-49967606","ensembl_id":"ENSG00000164077"}},"GRch38":{"90":{"location":"3:49908862-49930173","ensembl_id":"ENSG00000164077"}}},"hgnc_date_symbol_changed":"2005-03-02"},"entity_type":"gene","entity_name":"MON1A","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40174224"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Congenital diarrhea MONDO:0000824"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KPPS2","PPKS2","DPI","DPII"],"biotype":"protein_coding","hgnc_id":"HGNC:3052","gene_name":"desmoplakin","omim_gene":["125647"],"alias_name":null,"gene_symbol":"DSP","hgnc_symbol":"DSP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:7541808-7586950","ensembl_id":"ENSG00000096696"}},"GRch38":{"90":{"location":"6:7541575-7586717","ensembl_id":"ENSG00000096696"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":97,"hash_id":null,"name":"Desmosomal disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDesmosomal disorders typically affect skin, hair and heart, causing blistering/peeling, alopecia/hypotrichosis and cardiomyopathy.","status":"public","version":"1.4","version_created":"2026-03-24T17:36:11.745191+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066; Alopecia","HP:0001596"],"stats":{"number_of_genes":14,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3762","gene_name":"fibronectin leucine rich transmembrane protein 3","omim_gene":["604808"],"alias_name":null,"gene_symbol":"FLRT3","hgnc_symbol":"FLRT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:14303634-14318262","ensembl_id":"ENSG00000125848"}},"GRch38":{"90":{"location":"20:14322988-14337616","ensembl_id":"ENSG00000125848"}}},"hgnc_date_symbol_changed":"1999-10-29"},"entity_type":"gene","entity_name":"FLRT3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23643382","31200363"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 21 with anosmia (MIM# 615271)"],"mode_of_inheritance":"Unknown","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":["LGN","Pins"],"biotype":"protein_coding","hgnc_id":"HGNC:29501","gene_name":"G protein signaling modulator 2","omim_gene":["609245"],"alias_name":null,"gene_symbol":"GPSM2","hgnc_symbol":"GPSM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109417972-109477167","ensembl_id":"ENSG00000121957"}},"GRch38":{"90":{"location":"1:108875350-108934545","ensembl_id":"ENSG00000121957"}}},"hgnc_date_symbol_changed":"2004-02-03"},"entity_type":"gene","entity_name":"GPSM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20602914","22578326","28387217","27180139","27064331"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Chudley-McCullough syndrome, MIM# 604213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8966","gene_name":"phosphatidylinositol glycan anchor biosynthesis class L","omim_gene":["605947"],"alias_name":["N-acetylglucosaminylphosphatidylinositol deacetylase"],"gene_symbol":"PIGL","hgnc_symbol":"PIGL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:16120505-16252115","ensembl_id":"ENSG00000108474"}},"GRch38":{"90":{"location":"17:16217191-16351797","ensembl_id":"ENSG00000108474"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22444671","31535386","30023290","29473937","28371479","25706356"],"evidence":["Expert Review Green","Literature"],"phenotypes":["CHIME syndrome, MIM# 280000, MONDO:0010221"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","founder"],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2201","gene_name":"collagen type III alpha 1 chain","omim_gene":["120180"],"alias_name":null,"gene_symbol":"COL3A1","hgnc_symbol":"COL3A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:189839046-189877472","ensembl_id":"ENSG00000168542"}},"GRch38":{"90":{"location":"2:188974320-189012746","ensembl_id":"ENSG00000168542"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL3A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28742248","19455184","25205403","30071989","25758994"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, vascular type, MIM# 130050","Polymicrogyria with or without vascular-type EDS, MIM# 618343"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["cardiac"],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hcp-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1857","gene_name":"centromere protein F","omim_gene":["600236"],"alias_name":["mitosin"],"gene_symbol":"CENPF","hgnc_symbol":"CENPF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:214776538-214837931","ensembl_id":"ENSG00000117724"}},"GRch38":{"90":{"location":"1:214603195-214664588","ensembl_id":"ENSG00000117724"}}},"hgnc_date_symbol_changed":"1994-07-04"},"entity_type":"gene","entity_name":"CENPF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["25564561","28407396","26820108"],"evidence":["Expert Review Amber","Expert Review"],"phenotypes":["Stromme syndrome (MIM#243605)"],"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":["FLJ12618"],"biotype":"protein_coding","hgnc_id":"HGNC:20499","gene_name":"L-2-hydroxyglutarate dehydrogenase","omim_gene":["609584"],"alias_name":["2-hydroxyglutarate dehydrogenase"],"gene_symbol":"L2HGDH","hgnc_symbol":"L2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50704281-50779266","ensembl_id":"ENSG00000087299"}},"GRch38":{"90":{"location":"14:50237563-50312548","ensembl_id":"ENSG00000087299"}}},"hgnc_date_symbol_changed":"2005-05-25"},"entity_type":"gene","entity_name":"L2HGDH","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":["SCLH","DC","LISX","DBCN","XLIS"],"biotype":"protein_coding","hgnc_id":"HGNC:2714","gene_name":"doublecortin","omim_gene":["300121"],"alias_name":["doublecortex"],"gene_symbol":"DCX","hgnc_symbol":"DCX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110537007-110655603","ensembl_id":"ENSG00000077279"}},"GRch38":{"90":{"location":"X:111293779-111412429","ensembl_id":"ENSG00000077279"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"DCX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10915612","9489699","12552055"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lissencephaly, X-linked, MIM# 300067","Subcortical laminal heterotopia, X-linked 300067"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["HFH-4","HFH4"],"biotype":"protein_coding","hgnc_id":"HGNC:3816","gene_name":"forkhead box J1","omim_gene":["602291"],"alias_name":null,"gene_symbol":"FOXJ1","hgnc_symbol":"FOXJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74132414-74137380","ensembl_id":"ENSG00000129654"}},"GRch38":{"90":{"location":"17:76136333-76141299","ensembl_id":"ENSG00000129654"}}},"hgnc_date_symbol_changed":"1996-11-13"},"entity_type":"gene","entity_name":"FOXJ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31630787"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 43, MIM#618699","hydrocephalus","chronic destructive airway disease","randomization of left/right body asymmetry"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["DKFZp434H247","MED2"],"biotype":"protein_coding","hgnc_id":"HGNC:23074","gene_name":"mediator complex subunit 29","omim_gene":["612914"],"alias_name":null,"gene_symbol":"MED29","hgnc_symbol":"MED29","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39881943-39891277","ensembl_id":"ENSG00000063322"}},"GRch38":{"90":{"location":"19:39391303-39400637","ensembl_id":"ENSG00000063322"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED29","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40745490"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pontocerebellar hypoplasia, MONDO:0020135, MED29-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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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:3649","gene_name":"fem-1 homolog B","omim_gene":["613539"],"alias_name":null,"gene_symbol":"FEM1B","hgnc_symbol":"FEM1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68570141-68588203","ensembl_id":"ENSG00000169018"}},"GRch38":{"90":{"location":"15:68277803-68295865","ensembl_id":"ENSG00000169018"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"FEM1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","38465576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["IBD2","SEL1L1"],"biotype":"protein_coding","hgnc_id":"HGNC:10717","gene_name":"SEL1L ERAD E3 ligase adaptor subunit","omim_gene":["602329"],"alias_name":["sel-1 suppressor of lin-12-like 1 (C. elegans)"],"gene_symbol":"SEL1L","hgnc_symbol":"SEL1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:81937893-82000205","ensembl_id":"ENSG00000071537"}},"GRch38":{"90":{"location":"14:81471549-81533861","ensembl_id":"ENSG00000071537"}}},"hgnc_date_symbol_changed":"1997-04-25"},"entity_type":"gene","entity_name":"SEL1L","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["PMID: 37943610","PMID: 37943617"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinaemia, MIM# 621068","Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, MIM# 621067"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:6050","gene_name":"inositol monophosphatase 1","omim_gene":["602064"],"alias_name":["myo-inositol monophosphatase 1"],"gene_symbol":"IMPA1","hgnc_symbol":"IMPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:82570196-82598928","ensembl_id":"ENSG00000133731"}},"GRch38":{"90":{"location":"8:81657961-81686693","ensembl_id":"ENSG00000133731"}}},"hgnc_date_symbol_changed":"1993-08-26"},"entity_type":"gene","entity_name":"IMPA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["26416544","24554717","32839513","17460611"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["intellectual disability, autosomal recessive 59 MONDO:0015020"],"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":["B18","CI-B18","MGC2480"],"biotype":"protein_coding","hgnc_id":"HGNC:7702","gene_name":"NADH:ubiquinone oxidoreductase subunit B7","omim_gene":["603842"],"alias_name":["NADH-ubiquinone oxidoreductase B18 subunit","complex I B18 subunit"],"gene_symbol":"NDUFB7","hgnc_symbol":"NDUFB7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14676890-14682874","ensembl_id":"ENSG00000099795"}},"GRch38":{"90":{"location":"19:14566078-14572062","ensembl_id":"ENSG00000099795"}}},"hgnc_date_symbol_changed":"1997-12-09"},"entity_type":"gene","entity_name":"NDUFB7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33502047","27626371","40025060"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135","Congenital lactic acidosis","hypertrophic 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":[]},{"gene_data":{"alias":["FATP3","MGC4365","ACSVL3"],"biotype":"protein_coding","hgnc_id":"HGNC:10997","gene_name":"solute carrier family 27 member 3","omim_gene":["604193"],"alias_name":null,"gene_symbol":"SLC27A3","hgnc_symbol":"SLC27A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153746830-153752633","ensembl_id":"ENSG00000143554"}},"GRch38":{"90":{"location":"1:153774354-153780157","ensembl_id":"ENSG00000143554"}}},"hgnc_date_symbol_changed":"1999-08-20"},"entity_type":"gene","entity_name":"SLC27A3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41054338"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"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:8856","gene_name":"peroxisomal biogenesis factor 14","omim_gene":["601791"],"alias_name":null,"gene_symbol":"PEX14","hgnc_symbol":"PEX14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:10532345-10690815","ensembl_id":"ENSG00000142655"}},"GRch38":{"90":{"location":"1:10472288-10630758","ensembl_id":"ENSG00000142655"}}},"hgnc_date_symbol_changed":"1998-08-21"},"entity_type":"gene","entity_name":"PEX14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["37493040"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":155,"hash_id":null,"name":"Peroxisomal Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.61","version_created":"2025-12-31T14:23:29.190009+11:00","relevant_disorders":["Peroxisomal disease","MONDO:0019053"],"stats":{"number_of_genes":32,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:969","gene_name":"Bardet-Biedl syndrome 4","omim_gene":["600374"],"alias_name":null,"gene_symbol":"BBS4","hgnc_symbol":"BBS4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:72978527-73030817","ensembl_id":"ENSG00000140463"}},"GRch38":{"90":{"location":"15:72686179-72738476","ensembl_id":"ENSG00000140463"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"BBS4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12016587","11381270"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 4, MIM#615982","MONDO:0014433"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHF14","FAT-J","CDHR11"],"biotype":"protein_coding","hgnc_id":"HGNC:23109","gene_name":"FAT atypical cadherin 4","omim_gene":["612411"],"alias_name":["cadherin-related family member 11"],"gene_symbol":"FAT4","hgnc_symbol":"FAT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:126237554-126414087","ensembl_id":"ENSG00000196159"}},"GRch38":{"90":{"location":"4:125316399-125492932","ensembl_id":"ENSG00000196159"}}},"hgnc_date_symbol_changed":"2003-09-11"},"entity_type":"gene","entity_name":"FAT4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24913602","14564208"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hennekam Syndrome, MIM# 235510","childhood pulmonary lymphangiectasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VIPAR","VPS16B","SPE-39","SPE39","hSPE-39"],"biotype":"protein_coding","hgnc_id":"HGNC:20347","gene_name":"VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog","omim_gene":["613401"],"alias_name":["VPS33B interacting protein, apical-basolateral polarity regulator"],"gene_symbol":"VIPAS39","hgnc_symbol":"VIPAS39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:77893018-77924295","ensembl_id":"ENSG00000151445"}},"GRch38":{"90":{"location":"14:77426675-77457952","ensembl_id":"ENSG00000151445"}}},"hgnc_date_symbol_changed":"2012-07-24"},"entity_type":"gene","entity_name":"VIPAS39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22753090","26808426"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#\t613404"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BLOC3S1"],"biotype":"protein_coding","hgnc_id":"HGNC:5163","gene_name":"HPS1, biogenesis of lysosomal organelles complex 3 subunit 1","omim_gene":["604982"],"alias_name":null,"gene_symbol":"HPS1","hgnc_symbol":"HPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:100175955-100206684","ensembl_id":"ENSG00000107521"}},"GRch38":{"90":{"location":"10:98416198-98446947","ensembl_id":"ENSG00000107521"}}},"hgnc_date_symbol_changed":"2002-05-01"},"entity_type":"gene","entity_name":"HPS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hermansky-Pudlak syndrome 1, MIM#\t203300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EBP"],"biotype":"protein_coding","hgnc_id":"HGNC:4298","gene_name":"galactosidase beta 1","omim_gene":["611458"],"alias_name":null,"gene_symbol":"GLB1","hgnc_symbol":"GLB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:33038100-33138722","ensembl_id":"ENSG00000170266"}},"GRch38":{"90":{"location":"3:32996608-33097230","ensembl_id":"ENSG00000170266"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GLB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24156116"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["GM1-gangliosidosis, type I MIM#230500","GM1-gangliosidosis, type II MIM# 230600"],"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":["MIPP"],"biotype":"protein_coding","hgnc_id":"HGNC:7102","gene_name":"multiple inositol-polyphosphate phosphatase 1","omim_gene":["605391"],"alias_name":null,"gene_symbol":"MINPP1","hgnc_symbol":"MINPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89264632-89313217","ensembl_id":"ENSG00000107789"}},"GRch38":{"90":{"location":"10:87504875-87553460","ensembl_id":"ENSG00000107789"}}},"hgnc_date_symbol_changed":"1998-11-19"},"entity_type":"gene","entity_name":"MINPP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33257696"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Pontocerebellar hypoplasia, type 16, MIM#\t619527"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp434M222","FLJ00135"],"biotype":"protein_coding","hgnc_id":"HGNC:23215","gene_name":"phosphatidylinositol glycan anchor biosynthesis class O","omim_gene":["614730"],"alias_name":null,"gene_symbol":"PIGO","hgnc_symbol":"PIGO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35088685-35096591","ensembl_id":"ENSG00000165282"}},"GRch38":{"90":{"location":"9:35088688-35096601","ensembl_id":"ENSG00000165282"}}},"hgnc_date_symbol_changed":"2003-10-14"},"entity_type":"gene","entity_name":"PIGO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22683086","31698102","28900819","28545593","28337824"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882"],"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":["LGN","Pins"],"biotype":"protein_coding","hgnc_id":"HGNC:29501","gene_name":"G protein signaling modulator 2","omim_gene":["609245"],"alias_name":null,"gene_symbol":"GPSM2","hgnc_symbol":"GPSM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109417972-109477167","ensembl_id":"ENSG00000121957"}},"GRch38":{"90":{"location":"1:108875350-108934545","ensembl_id":"ENSG00000121957"}}},"hgnc_date_symbol_changed":"2004-02-03"},"entity_type":"gene","entity_name":"GPSM2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["20602914","22578326","28387217","27180139","27064331"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Chudley-McCullough syndrome, MIM# 604213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ORCAM","CDO","CDON1"],"biotype":"protein_coding","hgnc_id":"HGNC:17104","gene_name":"cell adhesion associated, oncogene regulated","omim_gene":["608707"],"alias_name":["cell adhesion molecule-related/down-regulated by oncogenes"],"gene_symbol":"CDON","hgnc_symbol":"CDON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125825691-125933230","ensembl_id":"ENSG00000064309"}},"GRch38":{"90":{"location":"11:125955796-126063335","ensembl_id":"ENSG00000064309"}}},"hgnc_date_symbol_changed":"2001-11-02"},"entity_type":"gene","entity_name":"CDON","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":["ACAD5"],"biotype":"protein_coding","hgnc_id":"HGNC:4189","gene_name":"glutaryl-CoA dehydrogenase","omim_gene":["608801"],"alias_name":null,"gene_symbol":"GCDH","hgnc_symbol":"GCDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13001840-13025021","ensembl_id":"ENSG00000105607"}},"GRch38":{"90":{"location":"19:12891026-12914207","ensembl_id":"ENSG00000105607"}}},"hgnc_date_symbol_changed":"1992-12-17"},"entity_type":"gene","entity_name":"GCDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["treatable"],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["12S"],"biotype":"Mt_rRNA","hgnc_id":"HGNC:7470","gene_name":"mitochondrially encoded 12S RNA","omim_gene":["561000"],"alias_name":["MOTS-c"],"gene_symbol":"MT-RNR1","hgnc_symbol":"MT-RNR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:648-1601","ensembl_id":"ENSG00000211459"}},"GRch38":{"90":{"location":"MT:648-1601","ensembl_id":"ENSG00000211459"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-RNR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20301595","7698299","16380089","12920080","24252789","9490575","8285309","9040738","7689389"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-RNR1-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":[]},{"gene_data":{"alias":["CD126"],"biotype":"protein_coding","hgnc_id":"HGNC:6019","gene_name":"interleukin 6 receptor","omim_gene":["147880"],"alias_name":null,"gene_symbol":"IL6R","hgnc_symbol":"IL6R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154377669-154441926","ensembl_id":"ENSG00000160712"}},"GRch38":{"90":{"location":"1:154405193-154469450","ensembl_id":"ENSG00000160712"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IL6R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31235509","39277818","40536180"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Recurrent pyogenic infections, cold abscesses","High circulating IL-6 levels","High IgE","IgE recurrent infection syndrome, MIM#618944"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hToll","CD284","TLR-4","ARMD10"],"biotype":"protein_coding","hgnc_id":"HGNC:11850","gene_name":"toll like receptor 4","omim_gene":["603030"],"alias_name":null,"gene_symbol":"TLR4","hgnc_symbol":"TLR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:120466610-120479149","ensembl_id":"ENSG00000136869"}},"GRch38":{"90":{"location":"9:117704332-117716871","ensembl_id":"ENSG00000136869"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32042729","31442584"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Inflammatory bowel disease MONDO:0005265"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":231,"hash_id":null,"name":"Defects of intrinsic and innate immunity","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause defects in intrinsic and innate immunity, including the following:\r\n- Mendelian susceptibility to mycobacterial disease (MSMD)\r\n- Epidermodysplasia verruciformis (HPV)\r\n- Predisposition to severe viral infection\r\n- Herpes simplex encephalitis (HSE)\r\n- Predisposition to mucocutaneous candidiasis\r\n- Other inborn errors of immunity related to non-haematopoietic tissues\r\n- Other inborn errors of immunity related to leukocytes\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.39","version_created":"2026-04-15T16:26:05.053680+10:00","relevant_disorders":["Unusual infections","HP:0032101"],"stats":{"number_of_genes":86,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DRN3"],"biotype":"protein_coding","hgnc_id":"HGNC:12269","gene_name":"three prime repair exonuclease 1","omim_gene":["606609"],"alias_name":null,"gene_symbol":"TREX1","hgnc_symbol":"TREX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48506445-48509044","ensembl_id":"ENSG00000213689"}},"GRch38":{"90":{"location":"3:48465811-48467645","ensembl_id":"ENSG00000213689"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TREX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Systemic lupus erythematosus, susceptibility to}\t152700","Aicardi-Goutieres syndrome 1, dominant and recessive\t225750"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall 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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:1961","gene_name":"cholinergic receptor nicotinic beta 1 subunit","omim_gene":["100710"],"alias_name":["acetylcholine receptor, nicotinic, beta 1 (muscle)"],"gene_symbol":"CHRNB1","hgnc_symbol":"CHRNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7348380-7361026","ensembl_id":"ENSG00000170175"}},"GRch38":{"90":{"location":"17:7445061-7457707","ensembl_id":"ENSG00000170175"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"CHRNB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital myasthenic syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4341","gene_name":"glutamate-ammonia ligase","omim_gene":["138290"],"alias_name":["glutamine synthetase"],"gene_symbol":"GLUL","hgnc_symbol":"GLUL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182350839-182361341","ensembl_id":"ENSG00000135821"}},"GRch38":{"90":{"location":"1:182381704-182392206","ensembl_id":"ENSG00000135821"}}},"hgnc_date_symbol_changed":"1988-11-30"},"entity_type":"gene","entity_name":"GLUL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital brain dysgenesis due to glutamine synthetase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SOTV"],"biotype":"protein_coding","hgnc_id":"HGNC:3513","gene_name":"exostosin glycosyltransferase 2","omim_gene":["608210"],"alias_name":["Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase","N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"],"gene_symbol":"EXT2","hgnc_symbol":"EXT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:44117099-44266979","ensembl_id":"ENSG00000151348"}},"GRch38":{"90":{"location":"11:44095549-44245429","ensembl_id":"ENSG00000151348"}}},"hgnc_date_symbol_changed":"1994-06-01"},"entity_type":"gene","entity_name":"EXT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Exostoses, multiple, type 2"],"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":["MGC33835","dJ510O8.8","Tmhs"],"biotype":"protein_coding","hgnc_id":"HGNC:21253","gene_name":"LHFPL tetraspan subfamily member 5","omim_gene":["609427"],"alias_name":["tetraspan membrane protein of hair cell stereocilia"],"gene_symbol":"LHFPL5","hgnc_symbol":"LHFPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:35773070-35801651","ensembl_id":"ENSG00000197753"}},"GRch38":{"90":{"location":"6:35805293-35833874","ensembl_id":"ENSG00000197753"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"LHFPL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal recessive"],"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":["HUS","FHL1","ARMS1","ARMD4"],"biotype":"protein_coding","hgnc_id":"HGNC:4883","gene_name":"complement factor H","omim_gene":["134370"],"alias_name":["beta-1H","H factor 2 (complement)","age-related maculopathy susceptibility 1"],"gene_symbol":"CFH","hgnc_symbol":"CFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196621008-196716634","ensembl_id":"ENSG00000000971"}},"GRch38":{"90":{"location":"1:196651878-196747504","ensembl_id":"ENSG00000000971"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"CFH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Haemolytic uraemic syndrome"],"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":["GBD4"],"biotype":"protein_coding","hgnc_id":"HGNC:13887","gene_name":"ATP binding cassette subfamily G member 8","omim_gene":["605460"],"alias_name":["gallbladder disease 4","sterolin 2"],"gene_symbol":"ABCG8","hgnc_symbol":"ABCG8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:44066103-44105605","ensembl_id":"ENSG00000143921"}},"GRch38":{"90":{"location":"2:43838964-43878466","ensembl_id":"ENSG00000143921"}}},"hgnc_date_symbol_changed":"2000-12-12"},"entity_type":"gene","entity_name":"ABCG8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34304999","33907061","33807969"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Sitosterolemia 1, MIM# 210250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FS"],"biotype":"protein_coding","hgnc_id":"HGNC:3971","gene_name":"follistatin","omim_gene":["136470"],"alias_name":null,"gene_symbol":"FST","hgnc_symbol":"FST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:52776239-52782964","ensembl_id":"ENSG00000134363"}},"GRch38":{"90":{"location":"5:53480409-53487134","ensembl_id":"ENSG00000134363"}}},"hgnc_date_symbol_changed":"1999-09-07"},"entity_type":"gene","entity_name":"FST","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 31215115"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["orofacial clefting"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp547M236","ZnT-10","ZRC1","ZNT8"],"biotype":"protein_coding","hgnc_id":"HGNC:25355","gene_name":"solute carrier family 30 member 10","omim_gene":["611146"],"alias_name":["zinc transporter 8"],"gene_symbol":"SLC30A10","hgnc_symbol":"SLC30A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:219858769-220131989","ensembl_id":"ENSG00000196660"}},"GRch38":{"90":{"location":"1:219685427-219958647","ensembl_id":"ENSG00000196660"}}},"hgnc_date_symbol_changed":"2005-09-06"},"entity_type":"gene","entity_name":"SLC30A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22341972","22341971","29193034"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypermanganesemia with dystonia 1, MIM# 613280"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["QRF1","12CC4","HSPC215","hFKH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:3823","gene_name":"forkhead box P1","omim_gene":["605515"],"alias_name":["fork head-related protein like B","glutamine-rich factor 1","PAX5/FOXP1 fusion protein"],"gene_symbol":"FOXP1","hgnc_symbol":"FOXP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71003844-71633140","ensembl_id":"ENSG00000114861"}},"GRch38":{"90":{"location":"3:70954693-71583989","ensembl_id":"ENSG00000114861"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"FOXP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HIP4"],"biotype":"protein_coding","hgnc_id":"HGNC:1550","gene_name":"cystathionine-beta-synthase","omim_gene":["613381"],"alias_name":null,"gene_symbol":"CBS","hgnc_symbol":"CBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44473301-44497053","ensembl_id":"ENSG00000160200"}},"GRch38":{"90":{"location":"21:43053191-43076943","ensembl_id":"ENSG00000160200"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7967489"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Homocystinuria, B6-responsive and nonresponsive types MIM#236200","disorder of intracellular cobalamin metabolism","metabolic disorder of sulfur metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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:16808","gene_name":"ubiquitin protein ligase E3 component n-recognin 1","omim_gene":["605981"],"alias_name":null,"gene_symbol":"UBR1","hgnc_symbol":"UBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:43235095-43398311","ensembl_id":"ENSG00000159459"}},"GRch38":{"90":{"location":"15:42942897-43106113","ensembl_id":"ENSG00000159459"}}},"hgnc_date_symbol_changed":"2002-01-25"},"entity_type":"gene","entity_name":"UBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Johanson-Blizzard syndrome, MIM#\t243800"],"mode_of_inheritance":"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":[]},{"gene_data":{"alias":["hCAP-1A","FLJ30655"],"biotype":"protein_coding","hgnc_id":"HGNC:26406","gene_name":"sodium channel and clathrin linker 1","omim_gene":["611399"],"alias_name":null,"gene_symbol":"SCLT1","hgnc_symbol":"SCLT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:129786076-130014764","ensembl_id":"ENSG00000151466"}},"GRch38":{"90":{"location":"4:128864921-129093607","ensembl_id":"ENSG00000151466"}}},"hgnc_date_symbol_changed":"2006-07-18"},"entity_type":"gene","entity_name":"SCLT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28486600","30425282","23348840","24285566","28005958","32253632"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Orofaciodigital syndrome type IX","Senior-Loken syndrome","Bardet-Biedl syndrome"],"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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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":["ACHM4"],"biotype":"protein_coding","hgnc_id":"HGNC:4394","gene_name":"G protein subunit alpha transducin 2","omim_gene":["139340"],"alias_name":null,"gene_symbol":"GNAT2","hgnc_symbol":"GNAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110145889-110155679","ensembl_id":"ENSG00000134183"}},"GRch38":{"90":{"location":"1:109603267-109619929","ensembl_id":"ENSG00000134183"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32203983","17251445","15557429","23580486","31058429","12077706","12205108","27718025","21107338","28041643"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Achromatopsia 4 MIM#613856"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:987","gene_name":"branched chain keto acid dehydrogenase E1 subunit beta","omim_gene":["248611"],"alias_name":["maple syrup urine disease","2-oxoisovalerate dehydrogenase subunit beta, mitochondrial"],"gene_symbol":"BCKDHB","hgnc_symbol":"BCKDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:80816364-81055987","ensembl_id":"ENSG00000083123"}},"GRch38":{"90":{"location":"6:80106647-80346270","ensembl_id":"ENSG00000083123"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"BCKDHB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","34883003","34556729","34288399"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["maple syrup urine disease type 1B MONDO:0023692"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["ND1","NAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:7455","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1","omim_gene":["516000"],"alias_name":["complex I ND1 subunit","NADH-ubiquinone oxidoreductase chain 1"],"gene_symbol":"MT-ND1","hgnc_symbol":"MT-ND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}},"GRch38":{"90":{"location":"MT:3307-4262","ensembl_id":"ENSG00000198888"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Leber hereditary optic neuropathy"],"mode_of_inheritance":"MITOCHONDRIAL","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":["HSAN2","PPP1R167"],"biotype":"protein_coding","hgnc_id":"HGNC:14540","gene_name":"WNK lysine deficient protein kinase 1","omim_gene":["605232"],"alias_name":["protein phosphatase 1, regulatory subunit 167"],"gene_symbol":"WNK1","hgnc_symbol":"WNK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:861759-1020618","ensembl_id":"ENSG00000060237"}},"GRch38":{"90":{"location":"12:752593-911452","ensembl_id":"ENSG00000060237"}}},"hgnc_date_symbol_changed":"2005-01-21"},"entity_type":"gene","entity_name":"WNK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11498583","32790646"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Pseudohypoaldosteronism 2C (PHA2C), MIM#614492"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp313M0720"],"biotype":"protein_coding","hgnc_id":"HGNC:25240","gene_name":"anoctamin 6","omim_gene":["608663"],"alias_name":null,"gene_symbol":"ANO6","hgnc_symbol":"ANO6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:45609770-45834187","ensembl_id":"ENSG00000177119"}},"GRch38":{"90":{"location":"12:45215987-45440404","ensembl_id":"ENSG00000177119"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21107324","27879994","11895776","27634832"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MONDO:0009885","Scott syndrome, MIM# 262890"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ADAR1"],"biotype":"protein_coding","hgnc_id":"HGNC:225","gene_name":"adenosine deaminase, RNA specific","omim_gene":["146920"],"alias_name":null,"gene_symbol":"ADAR","hgnc_symbol":"ADAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154554538-154600475","ensembl_id":"ENSG00000160710"}},"GRch38":{"90":{"location":"1:154582062-154627999","ensembl_id":"ENSG00000160710"}}},"hgnc_date_symbol_changed":"1995-12-12"},"entity_type":"gene","entity_name":"ADAR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 6, MIM#615010"],"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":["OIASI","IFI-4"],"biotype":"protein_coding","hgnc_id":"HGNC:8086","gene_name":"2'-5'-oligoadenylate synthetase 1","omim_gene":["164350"],"alias_name":null,"gene_symbol":"OAS1","hgnc_symbol":"OAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113344582-113369990","ensembl_id":"ENSG00000089127"}},"GRch38":{"90":{"location":"12:112906777-112933222","ensembl_id":"ENSG00000089127"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29455859","34145065"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Disorders of ectonucleotide and nucleic acid metabolism","pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4294,"hash_id":null,"name":"Nucleotide metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"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":["Soft tissue sarcoma, MONDO:0018078","Sarcoma, MONDO:0005089","Mismatch repair cancer syndrome 3, MONDO:0030841","Mismatch repair cancer syndrome 3, MIM#619097"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4358,"hash_id":null,"name":"Sarcoma soft tissue","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with soft tissue sarcoma.\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 soft tissue sarcoma 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":"1.1","version_created":"2026-01-12T09:39:55.152718+11:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]}]}