{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=34","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=32","results":[{"gene_data":{"alias":["CD230","PRP","AltPrP"],"biotype":"protein_coding","hgnc_id":"HGNC:9449","gene_name":"prion protein","omim_gene":["176640"],"alias_name":["Creutzfeldt-Jakob disease","Gerstmann-Strausler-Scheinker syndrome","fatal familial insomnia","p27-30"],"gene_symbol":"PRNP","hgnc_symbol":"PRNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:4666882-4682236","ensembl_id":"ENSG00000171867"}},"GRch38":{"90":{"location":"20:4686236-4701590","ensembl_id":"ENSG00000171867"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PRNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301407"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["inherited Creutzfeldt-Jakob disease MONDO:0007403","Gerstmann-Straussler-Scheinker syndrome MONDO:0007656"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564D166","FLJ10215","FLJ11824","KIAA1148","KIAA1636","rols","ROLSA"],"biotype":"protein_coding","hgnc_id":"HGNC:30212","gene_name":"tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2","omim_gene":["615047"],"alias_name":["rolling pebbles homolog B (Drosophila)"],"gene_symbol":"TANC2","hgnc_symbol":"TANC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61086917-61505060","ensembl_id":"ENSG00000170921"}},"GRch38":{"90":{"location":"17:63009556-63427699","ensembl_id":"ENSG00000170921"}}},"hgnc_date_symbol_changed":"2005-11-18"},"entity_type":"gene","entity_name":"TANC2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Cerebral palsy (CP) is a non-progressive neurodevelopmental disorder characterized by motor impairments, often accompanied by intellectual disability, epilepsy, visual and hearing impairment and speech and language deficits.\r\n\r\nPMID 33528536 reported a cohort of 1345 individuals undergoing genomic testing. Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dHand","Thing2","Hed","bHLHa26"],"biotype":"protein_coding","hgnc_id":"HGNC:4808","gene_name":"heart and neural crest derivatives expressed 2","omim_gene":["602407"],"alias_name":null,"gene_symbol":"HAND2","hgnc_symbol":"HAND2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:174446120-174451380","ensembl_id":"ENSG00000164107"}},"GRch38":{"90":{"location":"4:173524969-173530229","ensembl_id":"ENSG00000164107"}}},"hgnc_date_symbol_changed":"1999-05-17"},"entity_type":"gene","entity_name":"HAND2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26865696","32134193","26676105","30217752","20819618","36427970"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Congenital heart disease, MONDO:0005453, HAND2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"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":["DIC5","MGC20486","bA216B9.3","FAP133"],"biotype":"protein_coding","hgnc_id":"HGNC:28296","gene_name":"WD repeat domain 34","omim_gene":["613363"],"alias_name":null,"gene_symbol":"WDR34","hgnc_symbol":"WDR34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131395940-131419066","ensembl_id":"ENSG00000119333"}},"GRch38":{"90":{"location":"9:128633661-128656787","ensembl_id":"ENSG00000119333"}}},"hgnc_date_symbol_changed":"2013-02-19"},"entity_type":"gene","entity_name":"WDR34","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24183449","24183451","33124039","30649997","29241935","28379358"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633","Retinitis pigmentosa"],"mode_of_inheritance":"BIALLELIC, autosomal or 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phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OS","FXY","TRIM18","RNF59"],"biotype":"protein_coding","hgnc_id":"HGNC:7095","gene_name":"midline 1","omim_gene":["300552"],"alias_name":["Opitz/BBB syndrome"],"gene_symbol":"MID1","hgnc_symbol":"MID1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:10413350-10851773","ensembl_id":"ENSG00000101871"}},"GRch38":{"90":{"location":"X:10445310-10833654","ensembl_id":"ENSG00000101871"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"MID1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Opitz GBBB syndrome, type I, MIM# 300000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":104,"hash_id":null,"name":"Frontonasal dysplasia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:\r\n(1) true ocular hypertelorism;\r\n(2) broadening of the nasal root;\r\n(3) median facial cleft affecting the nose and/or upper lip and palate;\r\n(4) unilateral or bilateral clefting of the alae nasi;\r\n(5) lack of formation of the nasal tip;\r\n(6) anterior cranium bifidum occultum; and \r\n(7) a V-shaped or widow's peak frontal hairline.","status":"public","version":"1.3","version_created":"2025-10-26T17:18:38.360530+11:00","relevant_disorders":["Midline defect of the nose","HP:0004122; Midline facial cleft","HP:0100629; Cranium bifidum occultum","HP:0004423"],"stats":{"number_of_genes":9,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DISPA","MGC13130","DKFZP434I0428","MGC16796"],"biotype":"protein_coding","hgnc_id":"HGNC:19711","gene_name":"dispatched RND transporter family member 1","omim_gene":["607502"],"alias_name":null,"gene_symbol":"DISP1","hgnc_symbol":"DISP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:222988406-223179337","ensembl_id":"ENSG00000154309"}},"GRch38":{"90":{"location":"1:222872271-223005995","ensembl_id":"ENSG00000154309"}}},"hgnc_date_symbol_changed":"2003-12-12"},"entity_type":"gene","entity_name":"DISP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["19184110","26748417","23542665","38529886"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Holoprosencephaly 10, MIM#\t621143"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":112,"hash_id":null,"name":"Holoprosencephaly and septo-optic dysplasia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.24","version_created":"2026-03-03T11:24:20.637349+11:00","relevant_disorders":["Holoprosencephaly","HP:0001360; Septo-optic dysplasia","HP:0100842"],"stats":{"number_of_genes":31,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1345","MKS6","JBTS9"],"biotype":"protein_coding","hgnc_id":"HGNC:29253","gene_name":"coiled-coil and C2 domain containing 2A","omim_gene":["612013"],"alias_name":["Meckel syndrome, type 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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":["GBP","LCEH","LCHAD","MTPA"],"biotype":"protein_coding","hgnc_id":"HGNC:4801","gene_name":"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","omim_gene":["600890"],"alias_name":["gastrin-binding protein","long-chain-3-hydroxyacyl-CoA dehydrogenase","long-chain 2-enoyl-CoA hydratase","mitochondrial trifunctional protein, alpha subunit"],"gene_symbol":"HADHA","hgnc_symbol":"HADHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26413504-26467594","ensembl_id":"ENSG00000084754"}},"GRch38":{"90":{"location":"2:26190635-26244726","ensembl_id":"ENSG00000084754"}}},"hgnc_date_symbol_changed":"1994-12-16"},"entity_type":"gene","entity_name":"HADHA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23137060","11111210"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["LCHAD deficiency, MIM#\t609016"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"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":["uvomorulin","CD324"],"biotype":"protein_coding","hgnc_id":"HGNC:1748","gene_name":"cadherin 1","omim_gene":["192090"],"alias_name":["E-Cadherin"],"gene_symbol":"CDH1","hgnc_symbol":"CDH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:68771128-68869451","ensembl_id":"ENSG00000039068"}},"GRch38":{"90":{"location":"16:68737225-68835548","ensembl_id":"ENSG00000039068"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CDH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"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":["Crescerin-1","crescerin"],"biotype":"protein_coding","hgnc_id":"HGNC:19959","gene_name":"TOG array regulator of axonemal microtubules 1","omim_gene":["617618"],"alias_name":["crescerin"],"gene_symbol":"TOGARAM1","hgnc_symbol":"TOGARAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:45431411-45543634","ensembl_id":"ENSG00000198718"}},"GRch38":{"90":{"location":"14:44962208-45074431","ensembl_id":"ENSG00000198718"}}},"hgnc_date_symbol_changed":"2017-01-13"},"entity_type":"gene","entity_name":"TOGARAM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32747439","32453716"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 37, MIM# 619185"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":129,"hash_id":null,"name":"Joubert syndrome and other neurological ciliopathies","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes associated with Joubert syndrome, Meckel Gruber syndrome and other ciliopathies where structural CNS abnormalities are prominent.\r\n\r\nPlease consider also applying the Cerebellar and Pontocerebellar Hypoplasia panel in the presence of more non-specific cerebellar abnormalities and applying the Ciliopathy panel in the presence of additional clinical features suggestive of a multi-system ciliopathy.","status":"public","version":"1.33","version_created":"2025-12-16T12:55:34.757878+11:00","relevant_disorders":["Molar tooth sign on MRI","HP:0002419; Joubert syndrome","MONDO:0018772"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["minK","ISK","JLNS2","LQT5"],"biotype":"protein_coding","hgnc_id":"HGNC:6240","gene_name":"potassium voltage-gated channel subfamily E regulatory subunit 1","omim_gene":["176261"],"alias_name":null,"gene_symbol":"KCNE1","hgnc_symbol":"KCNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35818988-35884573","ensembl_id":"ENSG00000180509"}},"GRch38":{"90":{"location":"21:34446688-34512275","ensembl_id":"ENSG00000180509"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNE1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Jervell and Lange-Nielsen syndrome 2, MIM# 612347","Long QT syndrome 5, MIM# 613695","Acquired LQTS"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"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":["LOXL","LOL"],"biotype":"protein_coding","hgnc_id":"HGNC:6665","gene_name":"lysyl oxidase like 1","omim_gene":["153456"],"alias_name":null,"gene_symbol":"LOXL1","hgnc_symbol":"LOXL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74218330-74244478","ensembl_id":"ENSG00000129038"}},"GRch38":{"90":{"location":"15:73925989-73952137","ensembl_id":"ENSG00000129038"}}},"hgnc_date_symbol_changed":"1993-12-08"},"entity_type":"gene","entity_name":"LOXL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Exfoliation syndrome, susceptibility to, MIM#177650"],"mode_of_inheritance":"Other","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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp313G1735","TSULF"],"biotype":"protein_coding","hgnc_id":"HGNC:25239","gene_name":"arylsulfatase family member K","omim_gene":["610011"],"alias_name":null,"gene_symbol":"ARSK","hgnc_symbol":"ARSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:94890778-94940768","ensembl_id":"ENSG00000164291"}},"GRch38":{"90":{"location":"5:95555074-95605064","ensembl_id":"ENSG00000164291"}}},"hgnc_date_symbol_changed":"2006-02-09"},"entity_type":"gene","entity_name":"ARSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34916232","32856704"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mucopolysaccharidosis MONDO:0019249, ARSK-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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B7-H","B7H1","PD-L1","PDL1","B7-H1"],"biotype":"protein_coding","hgnc_id":"HGNC:17635","gene_name":"CD274 molecule","omim_gene":["605402"],"alias_name":["B7 homolog 1"],"gene_symbol":"CD274","hgnc_symbol":"CD274","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:5450503-5470566","ensembl_id":"ENSG00000120217"}},"GRch38":{"90":{"location":"9:5450503-5470566","ensembl_id":"ENSG00000120217"}}},"hgnc_date_symbol_changed":"2005-02-25"},"entity_type":"gene","entity_name":"CD274","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["38634869"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Autoimmune disease, multisystem, infantile-onset, 5, MIM# 621235"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1970","MSE1"],"biotype":"protein_coding","hgnc_id":"HGNC:29419","gene_name":"glutamyl-tRNA synthetase 2, mitochondrial","omim_gene":["612799"],"alias_name":["glutamate tRNA ligase 2, mitochondrial"],"gene_symbol":"EARS2","hgnc_symbol":"EARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23533335-23569052","ensembl_id":"ENSG00000103356"}},"GRch38":{"90":{"location":"16:23522014-23557731","ensembl_id":"ENSG00000103356"}}},"hgnc_date_symbol_changed":"2006-04-04"},"entity_type":"gene","entity_name":"EARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22492562","23008233","25854774","26619324","26893310","27206875","27571996","27117034"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leigh syndrome MONDO:0009723","Combined oxidative phosphorylation deficiency 12 MIM#614924","leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3687","gene_name":"fibroblast growth factor 9","omim_gene":["600921"],"alias_name":["glia-activating factor"],"gene_symbol":"FGF9","hgnc_symbol":"FGF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:22245522-22278637","ensembl_id":"ENSG00000102678"}},"GRch38":{"90":{"location":"13:21671383-21704498","ensembl_id":"ENSG00000102678"}}},"hgnc_date_symbol_changed":"1995-08-15"},"entity_type":"gene","entity_name":"FGF9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33140402","28730625","19589401","33174625","19219044","28730625"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple synostoses syndrome 3, OMIM # 612961","Craniosynostosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TFiiiC2-102","TFIIIC102"],"biotype":"protein_coding","hgnc_id":"HGNC:4666","gene_name":"general transcription factor IIIC subunit 3","omim_gene":["604888"],"alias_name":null,"gene_symbol":"GTF3C3","hgnc_symbol":"GTF3C3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:197627756-197664449","ensembl_id":"ENSG00000119041"}},"GRch38":{"90":{"location":"2:196763032-196799725","ensembl_id":"ENSG00000119041"}}},"hgnc_date_symbol_changed":"1999-03-16"},"entity_type":"gene","entity_name":"GTF3C3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28940097","28097321","30552426"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures, MIM# 621201"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIP1"],"biotype":"protein_coding","hgnc_id":"HGNC:17435","gene_name":"solute carrier family 12 member 9","omim_gene":["616861"],"alias_name":["cation-chloride cotransporter-interacting protein"],"gene_symbol":"SLC12A9","hgnc_symbol":"SLC12A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100424442-100464631","ensembl_id":"ENSG00000146828"}},"GRch38":{"90":{"location":"7:100826820-100867009","ensembl_id":"ENSG00000146828"}}},"hgnc_date_symbol_changed":"2003-07-25"},"entity_type":"gene","entity_name":"SLC12A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38334070"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SLC12A9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["UNC104"],"biotype":"protein_coding","hgnc_id":"HGNC:888","gene_name":"kinesin family member 1A","omim_gene":["601255"],"alias_name":null,"gene_symbol":"KIF1A","hgnc_symbol":"KIF1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:241653181-241759725","ensembl_id":"ENSG00000130294"}},"GRch38":{"90":{"location":"2:240713764-240820308","ensembl_id":"ENSG00000130294"}}},"hgnc_date_symbol_changed":"2004-01-14"},"entity_type":"gene","entity_name":"KIF1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820098","28708278"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy, hereditary sensory, type IIC, MIM# 614213","NESCAV syndrome, MIM# 614255","Spastic paraplegia 30, autosomal dominant MIM# 610357","Spastic paraplegia 30, autosomal recessive 620607"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD107b"],"biotype":"protein_coding","hgnc_id":"HGNC:6501","gene_name":"lysosomal associated membrane protein 2","omim_gene":["309060"],"alias_name":null,"gene_symbol":"LAMP2","hgnc_symbol":"LAMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:119561682-119603220","ensembl_id":"ENSG00000005893"}},"GRch38":{"90":{"location":"X:120427827-120469365","ensembl_id":"ENSG00000005893"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"LAMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Danon disease, MIM# 300257","MONDO:0010281"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLUR7","GPRC1G","mGlu7","MGLUR7","PPP1R87"],"biotype":"protein_coding","hgnc_id":"HGNC:4599","gene_name":"glutamate metabotropic receptor 7","omim_gene":["604101"],"alias_name":["protein phosphatase 1, regulatory subunit 87"],"gene_symbol":"GRM7","hgnc_symbol":"GRM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:6811688-7783215","ensembl_id":"ENSG00000196277"}},"GRch38":{"90":{"location":"3:6770001-7741533","ensembl_id":"ENSG00000196277"}}},"hgnc_date_symbol_changed":"1995-10-11"},"entity_type":"gene","entity_name":"GRM7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32286009","32248644"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, microcephaly, developmental delay","neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA), MIM#618922"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20052"],"biotype":"protein_coding","hgnc_id":"HGNC:19349","gene_name":"kinesin family member 21A","omim_gene":["608283"],"alias_name":null,"gene_symbol":"KIF21A","hgnc_symbol":"KIF21A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:39687030-39837192","ensembl_id":"ENSG00000139116"}},"GRch38":{"90":{"location":"12:39293228-39443390","ensembl_id":"ENSG00000139116"}}},"hgnc_date_symbol_changed":"2002-10-08"},"entity_type":"gene","entity_name":"KIF21A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37921537","34740919","32686171"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia sequence","HP:0001989"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6189","gene_name":"jagged 2","omim_gene":["602570"],"alias_name":null,"gene_symbol":"JAG2","hgnc_symbol":"JAG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105607318-105635161","ensembl_id":"ENSG00000184916"}},"GRch38":{"90":{"location":"14:105140981-105168824","ensembl_id":"ENSG00000184916"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"JAG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33861953"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 27, MIM# 619566","muscular dystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SYNE-1B","KIAA0796","8B","Nesprin-1","enaptin","MYNE1","CPG2","dJ45H2.2","SCAR8","ARCA1","Nesp1"],"biotype":"protein_coding","hgnc_id":"HGNC:17089","gene_name":"spectrin repeat containing nuclear envelope protein 1","omim_gene":["608441"],"alias_name":["myocyte nuclear envelope protein 1","nuclear envelope spectrin repeat-1"],"gene_symbol":"SYNE1","hgnc_symbol":"SYNE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:152442819-152958936","ensembl_id":"ENSG00000131018"}},"GRch38":{"90":{"location":"6:152121684-152637801","ensembl_id":"ENSG00000131018"}}},"hgnc_date_symbol_changed":"2003-02-19"},"entity_type":"gene","entity_name":"SYNE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27782104","19542096"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:166","gene_name":"actinin alpha 4","omim_gene":["604638"],"alias_name":null,"gene_symbol":"ACTN4","hgnc_symbol":"ACTN4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39138289-39222223","ensembl_id":"ENSG00000130402"}},"GRch38":{"90":{"location":"19:38647649-38731583","ensembl_id":"ENSG00000130402"}}},"hgnc_date_symbol_changed":"1992-03-26"},"entity_type":"gene","entity_name":"ACTN4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26740551","22351778","10700177","26301083"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glomerulosclerosis, focal segmental, 1, MIM#603278"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPAX5"],"biotype":"protein_coding","hgnc_id":"HGNC:315","gene_name":"AFG3 like matrix AAA peptidase subunit 2","omim_gene":["604581"],"alias_name":null,"gene_symbol":"AFG3L2","hgnc_symbol":"AFG3L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12328943-12377313","ensembl_id":"ENSG00000141385"}},"GRch38":{"90":{"location":"18:12328944-12377314","ensembl_id":"ENSG00000141385"}}},"hgnc_date_symbol_changed":"1999-07-13"},"entity_type":"gene","entity_name":"AFG3L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29181157","26539208","30252181","30389403","32219868","32600459","32548275"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Optic atrophy 12, MIM#\t618977"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":null},{"gene_data":{"alias":["CC-CKR-2","CKR2","MCP-1-R","CD192","FLJ78302"],"biotype":"protein_coding","hgnc_id":"HGNC:1603","gene_name":"C-C motif chemokine receptor 2","omim_gene":["601267"],"alias_name":null,"gene_symbol":"CCR2","hgnc_symbol":"CCR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46395225-46402419","ensembl_id":"ENSG00000121807"}},"GRch38":{"90":{"location":"3:46353734-46360928","ensembl_id":"ENSG00000121807"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"CCR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40432300","40325923","38157855"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polycystic lung disease MIM#219600"],"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":["FAD","FA-D2"],"biotype":"protein_coding","hgnc_id":"HGNC:3585","gene_name":"Fanconi anemia complementation group D2","omim_gene":["613984"],"alias_name":null,"gene_symbol":"FANCD2","hgnc_symbol":"FANCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:10068098-10143614","ensembl_id":"ENSG00000144554"}},"GRch38":{"90":{"location":"3:10026414-10101930","ensembl_id":"ENSG00000144554"}}},"hgnc_date_symbol_changed":"2001-10-05"},"entity_type":"gene","entity_name":"FANCD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17436244"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D2, MIM# 227646","MONDO:0009214"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACHP","FLJ11665","ZRS"],"biotype":"protein_coding","hgnc_id":"HGNC:13243","gene_name":"limb development membrane protein 1","omim_gene":["605522"],"alias_name":null,"gene_symbol":"LMBR1","hgnc_symbol":"LMBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:156461646-156685924","ensembl_id":"ENSG00000105983"}},"GRch38":{"90":{"location":"7:156668946-156893230","ensembl_id":"ENSG00000105983"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"LMBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Laurin-Sandrow syndrome, MIM#\t135750"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DIC5","MGC20486","bA216B9.3","FAP133"],"biotype":"protein_coding","hgnc_id":"HGNC:28296","gene_name":"WD repeat domain 34","omim_gene":["613363"],"alias_name":null,"gene_symbol":"WDR34","hgnc_symbol":"WDR34","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131395940-131419066","ensembl_id":"ENSG00000119333"}},"GRch38":{"90":{"location":"9:128633661-128656787","ensembl_id":"ENSG00000119333"}}},"hgnc_date_symbol_changed":"2013-02-19"},"entity_type":"gene","entity_name":"WDR34","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24183449","24183451","30649997","29241935","28379358"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. \r\n\r\nThis panel contains genes associated with skeletal ciliopathies (including short rib polydactyly and jeune asphyxiating thoracic dystrophy).\r\n\r\nIt has been compared against the Genomics England PanelApp Skeletal Ciliopathy panel, with all differences resolved and reciprocal feedback provided to Genomics England, 24/05/2020.\r\n\r\nConsider applying the broader Skeletal Dysplasia panel if the clinical presentation is not entirely typical of a skeletal ciliopathy.","status":"public","version":"1.23","version_created":"2026-02-26T20:48:41.390236+11:00","relevant_disorders":["Short rib","HP:0000773; Polydactyly","HP:0010442; Bell-shaped thorax","HP:0001591"],"stats":{"number_of_genes":37,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cblG"],"biotype":"protein_coding","hgnc_id":"HGNC:7468","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase","omim_gene":["156570"],"alias_name":null,"gene_symbol":"MTR","hgnc_symbol":"MTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236958610-237067281","ensembl_id":"ENSG00000116984"}},"GRch38":{"90":{"location":"1:236795281-236903981","ensembl_id":"ENSG00000116984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25526710","9683607","28666289"],"evidence":["NHS GMS","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Homocystinuria-megaloblastic anemia, cblG complementation type, MIM#250940"],"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":["MDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:202","gene_name":"ADAM metallopeptidase domain 23","omim_gene":["603710"],"alias_name":null,"gene_symbol":"ADAM23","hgnc_symbol":"ADAM23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:207308263-207485851","ensembl_id":"ENSG00000114948"}},"GRch38":{"90":{"location":"2:206443539-206621130","ensembl_id":"ENSG00000114948"}}},"hgnc_date_symbol_changed":"1998-12-01"},"entity_type":"gene","entity_name":"ADAM23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40455867"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related"],"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":["PEO","PEO1","TWINKLE","FLJ21832","TWINL"],"biotype":"protein_coding","hgnc_id":"HGNC:1160","gene_name":"twinkle mtDNA helicase","omim_gene":["606075"],"alias_name":["T7 helicase-related protein with intramitochondrial nucleoid localization"],"gene_symbol":"TWNK","hgnc_symbol":"TWNK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:102747124-102754158","ensembl_id":"ENSG00000107815"}},"GRch38":{"90":{"location":"10:100987367-100994401","ensembl_id":"ENSG00000107815"}}},"hgnc_date_symbol_changed":"2016-10-11"},"entity_type":"gene","entity_name":"TWNK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 19304794"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MIM#271245","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286"],"mode_of_inheritance":"BOTH monoallelic and 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":["PI3K"],"biotype":"protein_coding","hgnc_id":"HGNC:8975","gene_name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","omim_gene":["171834"],"alias_name":null,"gene_symbol":"PIK3CA","hgnc_symbol":"PIK3CA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:178865902-178957881","ensembl_id":"ENSG00000121879"}},"GRch38":{"90":{"location":"3:179148114-179240093","ensembl_id":"ENSG00000121879"}}},"hgnc_date_symbol_changed":"1994-07-15"},"entity_type":"gene","entity_name":"PIK3CA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MIM#602501"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"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":["B8"],"biotype":"protein_coding","hgnc_id":"HGNC:7685","gene_name":"NADH:ubiquinone oxidoreductase subunit A2","omim_gene":["602137"],"alias_name":["complex I B8 subunit"],"gene_symbol":"NDUFA2","hgnc_symbol":"NDUFA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140018325-140027370","ensembl_id":"ENSG00000131495"}},"GRch38":{"90":{"location":"5:140638740-140647785","ensembl_id":"ENSG00000131495"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28857146","32154054","18513682"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10889","gene_name":"SIX homeobox 3","omim_gene":["603714"],"alias_name":null,"gene_symbol":"SIX3","hgnc_symbol":"SIX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:45168902-45173216","ensembl_id":"ENSG00000138083"}},"GRch38":{"90":{"location":"2:44941898-44946077","ensembl_id":"ENSG00000138083"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"SIX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6481","gene_name":"laminin subunit alpha 1","omim_gene":["150320"],"alias_name":null,"gene_symbol":"LAMA1","hgnc_symbol":"LAMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:6941743-7117813","ensembl_id":"ENSG00000101680"}},"GRch38":{"90":{"location":"18:6941744-7117814","ensembl_id":"ENSG00000101680"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"LAMA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10326"],"biotype":"protein_coding","hgnc_id":"HGNC:29685","gene_name":"isoleucyl-tRNA synthetase 2, mitochondrial","omim_gene":["612801"],"alias_name":["isoleucine tRNA ligase 2, mitochondrial"],"gene_symbol":"IARS2","hgnc_symbol":"IARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220267444-220321380","ensembl_id":"ENSG00000067704"}},"GRch38":{"90":{"location":"1:220094102-220148041","ensembl_id":"ENSG00000067704"}}},"hgnc_date_symbol_changed":"2005-05-09"},"entity_type":"gene","entity_name":"IARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39994538","36704128","30419932","29914532","28328135","27078007"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#\t616007"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:21328","gene_name":"neuraminidase 4","omim_gene":["608527"],"alias_name":null,"gene_symbol":"NEU4","hgnc_symbol":"NEU4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242749920-242758739","ensembl_id":"ENSG00000204099"}},"GRch38":{"90":{"location":"2:241808825-241817413","ensembl_id":"ENSG00000204099"}}},"hgnc_date_symbol_changed":"2003-09-16"},"entity_type":"gene","entity_name":"NEU4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41833579"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Hearing loss disorder, MONDO:0005365, NEU4-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["GAPCenA","TBC1D11"],"biotype":"protein_coding","hgnc_id":"HGNC:17155","gene_name":"RAB GTPase activating protein 1","omim_gene":["615882"],"alias_name":["rab6 GTPase activating protein (GAP and centrosome-associated)","TBC1 domain family, member 11"],"gene_symbol":"RABGAP1","hgnc_symbol":"RABGAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:125703112-125867145","ensembl_id":"ENSG00000011454"}},"GRch38":{"90":{"location":"9:122940833-123104866","ensembl_id":"ENSG00000011454"}}},"hgnc_date_symbol_changed":"2004-01-12"},"entity_type":"gene","entity_name":"RABGAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36083289"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","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":["CTLN1"],"biotype":"protein_coding","hgnc_id":"HGNC:758","gene_name":"argininosuccinate synthase 1","omim_gene":["603470"],"alias_name":null,"gene_symbol":"ASS1","hgnc_symbol":"ASS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133320316-133376661","ensembl_id":"ENSG00000130707"}},"GRch38":{"90":{"location":"9:130444929-130501274","ensembl_id":"ENSG00000130707"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"ASS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Citrullinaemia MIM#215700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20116","URP1","KIND1","UNC112A"],"biotype":"protein_coding","hgnc_id":"HGNC:15889","gene_name":"fermitin family member 1","omim_gene":["607900"],"alias_name":["kindlin-1","kinderlin"],"gene_symbol":"FERMT1","hgnc_symbol":"FERMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:6055492-6104191","ensembl_id":"ENSG00000101311"}},"GRch38":{"90":{"location":"20:6074845-6123544","ensembl_id":"ENSG00000101311"}}},"hgnc_date_symbol_changed":"2007-12-14"},"entity_type":"gene","entity_name":"FERMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34512655"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kindler syndrome MONDO:0008260"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\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 Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"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":["KIAA1577"],"biotype":"protein_coding","hgnc_id":"HGNC:29316","gene_name":"zinc finger SWIM-type containing 6","omim_gene":["615951"],"alias_name":null,"gene_symbol":"ZSWIM6","hgnc_symbol":"ZSWIM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60628100-60841997","ensembl_id":"ENSG00000130449"}},"GRch38":{"90":{"location":"5:61332273-61546170","ensembl_id":"ENSG00000130449"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"ZSWIM6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29198722"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TAFII18"],"biotype":"protein_coding","hgnc_id":"HGNC:11546","gene_name":"TATA-box binding protein associated factor 13","omim_gene":["600774"],"alias_name":null,"gene_symbol":"TAF13","hgnc_symbol":"TAF13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:109605108-109618624","ensembl_id":"ENSG00000197780"}},"GRch38":{"90":{"location":"1:109062486-109076002","ensembl_id":"ENSG00000197780"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"TAF13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28257693","40679298"],"evidence":["Expert Review Amber","Genetic Health Queensland"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 60, MIM# 617432"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8959","gene_name":"phosphatidylinositol glycan anchor biosynthesis class B","omim_gene":["604122"],"alias_name":["GPI mannosyltransferase 3","dol-P-Man dependent GPI mannosyltransferase"],"gene_symbol":"PIGB","hgnc_symbol":"PIGB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:55611158-55647846","ensembl_id":"ENSG00000069943"}},"GRch38":{"90":{"location":"15:55318960-55355648","ensembl_id":"ENSG00000069943"}}},"hgnc_date_symbol_changed":"1999-04-15"},"entity_type":"gene","entity_name":"PIGB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PubMed: 31256876"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 80, MIM# 618580"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ10707"],"biotype":"protein_coding","hgnc_id":"HGNC:25566","gene_name":"SET domain containing 5","omim_gene":["615743"],"alias_name":null,"gene_symbol":"SETD5","hgnc_symbol":"SETD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:9439299-9520924","ensembl_id":"ENSG00000168137"}},"GRch38":{"90":{"location":"3:9397615-9479240","ensembl_id":"ENSG00000168137"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"SETD5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29484850"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Intellectual disability, autosomal dominant 23 (MIM # 615761)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BRAF1"],"biotype":"protein_coding","hgnc_id":"HGNC:1097","gene_name":"B-Raf proto-oncogene, serine/threonine kinase","omim_gene":["164757"],"alias_name":null,"gene_symbol":"BRAF","hgnc_symbol":"BRAF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:140419127-140624564","ensembl_id":"ENSG00000157764"}},"GRch38":{"90":{"location":"7:140719327-140924764","ensembl_id":"ENSG00000157764"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"BRAF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["10610177","16474404","19206169"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Cardiofaciocutaneous syndrome (MIM# 115150)","Noonan syndrome (MIM# 613706)","LEOPARD syndrome (MIM# 613707)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BFNC"],"biotype":"protein_coding","hgnc_id":"HGNC:1958","gene_name":"cholinergic receptor nicotinic alpha 4 subunit","omim_gene":["118504"],"alias_name":["acetylcholine receptor, nicotinic, alpha 4 (neuronal)"],"gene_symbol":"CHRNA4","hgnc_symbol":"CHRNA4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:61975420-62009753","ensembl_id":"ENSG00000101204"}},"GRch38":{"90":{"location":"20:63343223-63378401","ensembl_id":"ENSG00000101204"}}},"hgnc_date_symbol_changed":"1990-05-11"},"entity_type":"gene","entity_name":"CHRNA4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["14623738"],"evidence":["Expert Review Red","Genetic Health Queensland"],"phenotypes":["Epilepsy, nocturnal frontal lobe, 1, MIM# 600513"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Emory Genetics Laboratory"],"phenotypes":[],"mode_of_inheritance":"","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AIP1","ARMER","KIAA0069","SPG61"],"biotype":"protein_coding","hgnc_id":"HGNC:697","gene_name":"ADP ribosylation factor like GTPase 6 interacting protein 1","omim_gene":["607669"],"alias_name":null,"gene_symbol":"ARL6IP1","hgnc_symbol":"ARL6IP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:18802991-18813000","ensembl_id":"ENSG00000170540"}},"GRch38":{"90":{"location":"16:18791667-18801678","ensembl_id":"ENSG00000170540"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"ARL6IP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24482476","31272422","30980493","28471035"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 61, autosomal recessive, MIM#615685"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2084","gene_name":"caseinolytic mitochondrial matrix peptidase proteolytic subunit","omim_gene":["601119"],"alias_name":["ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human"],"gene_symbol":"CLPP","hgnc_symbol":"CLPP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:6361463-6368919","ensembl_id":"ENSG00000125656"}},"GRch38":{"90":{"location":"19:6361452-6368908","ensembl_id":"ENSG00000125656"}}},"hgnc_date_symbol_changed":"1999-09-20"},"entity_type":"gene","entity_name":"CLPP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22037954"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Perrault syndrome 3 MIM#614129"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CLA20","AP47B","SPG52"],"biotype":"protein_coding","hgnc_id":"HGNC:575","gene_name":"adaptor related protein complex 4 sigma 1 subunit","omim_gene":["607243"],"alias_name":null,"gene_symbol":"AP4S1","hgnc_symbol":"AP4S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31494312-31562818","ensembl_id":"ENSG00000100478"}},"GRch38":{"90":{"location":"14:31025106-31096450","ensembl_id":"ENSG00000100478"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic paraplegia 52, autosomal recessive, 614067 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCST","NKH"],"biotype":"protein_coding","hgnc_id":"HGNC:473","gene_name":"aminomethyltransferase","omim_gene":["238310"],"alias_name":["glycine cleavage system protein T"],"gene_symbol":"AMT","hgnc_symbol":"AMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:49454211-49460186","ensembl_id":"ENSG00000145020"}},"GRch38":{"90":{"location":"3:49416775-49422753","ensembl_id":"ENSG00000145020"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"AMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycine encephalopathy, 605899 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FTZ1","SF-1","ELP","AD4BP","hSF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:7983","gene_name":"nuclear receptor subfamily 5 group A member 1","omim_gene":["184757"],"alias_name":["steroidogenic factor 1"],"gene_symbol":"NR5A1","hgnc_symbol":"NR5A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127243516-127269709","ensembl_id":"ENSG00000136931"}},"GRch38":{"90":{"location":"9:124481236-124507430","ensembl_id":"ENSG00000136931"}}},"hgnc_date_symbol_changed":"1994-06-07"},"entity_type":"gene","entity_name":"NR5A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31513305"],"evidence":["Expert Review Green","Genetic Health QLD","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 8,613957","46XY sex reversal 3,612965","Premature ovarian failure 7,612964"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["31332722"],"evidence":["Expert Review Green","Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["Trichothiodystrophy 1, photosensitive, 601675"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["mPA-PLA1","PLA1B","mPA-PLA1alpha","LPDLR"],"biotype":"protein_coding","hgnc_id":"HGNC:18483","gene_name":"lipase H","omim_gene":["607365"],"alias_name":["phospholipase A(1)"],"gene_symbol":"LIPH","hgnc_symbol":"LIPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:185224050-185270401","ensembl_id":"ENSG00000163898"}},"GRch38":{"90":{"location":"3:185506262-185552613","ensembl_id":"ENSG00000163898"}}},"hgnc_date_symbol_changed":"2002-11-28"},"entity_type":"gene","entity_name":"LIPH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31332722"],"evidence":["Expert Review Green","Expert Review Green","NHS GMS"],"phenotypes":["Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379","Hypotrichosis 7, 604379"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NEM3"],"biotype":"protein_coding","hgnc_id":"HGNC:129","gene_name":"actin, alpha 1, skeletal muscle","omim_gene":["102610"],"alias_name":["nemaline myopathy type 3"],"gene_symbol":"ACTA1","hgnc_symbol":"ACTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:229566992-229569845","ensembl_id":"ENSG00000143632"}},"GRch38":{"90":{"location":"1:229431245-229434098","ensembl_id":"ENSG00000143632"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["doi:10. 1007/ s12265-016-9673-5","16945537"],"evidence":["Expert Review Green","London South GLH","South West GLH","NHS GMS"],"phenotypes":["Hypertrophic cardiomyopathy","Nemaline myopathy 3, autosomal dominant or recessive 161800","Dilated cardiomyopathy","Myopathy, congenital, with fiber-type disproportion 1 255310","CMD with rigid spine"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10709"],"biotype":"protein_coding","hgnc_id":"HGNC:25567","gene_name":"ATPase family, AAA domain containing 3A","omim_gene":["612316"],"alias_name":null,"gene_symbol":"ATAD3A","hgnc_symbol":"ATAD3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1447531-1470067","ensembl_id":"ENSG00000197785"}},"GRch38":{"90":{"location":"1:1512151-1534687","ensembl_id":"ENSG00000197785"}}},"hgnc_date_symbol_changed":"2007-02-08"},"entity_type":"gene","entity_name":"ATAD3A","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["32004445","27640307"],"evidence":["Expert Review Green","Expert Review","Literature"],"phenotypes":["Harel-Yoon syndrome, MIM# 617183","Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810","perinatal cardiomyopathy","cataracts","corneal clouding"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp762H1311","FLJ22445","JBTS15"],"biotype":"protein_coding","hgnc_id":"HGNC:12370","gene_name":"centrosomal protein 41","omim_gene":["610523"],"alias_name":null,"gene_symbol":"CEP41","hgnc_symbol":"CEP41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:130033612-130082274","ensembl_id":"ENSG00000106477"}},"GRch38":{"90":{"location":"7:130393771-130442433","ensembl_id":"ENSG00000106477"}}},"hgnc_date_symbol_changed":"2011-10-04"},"entity_type":"gene","entity_name":"CEP41","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Joubert 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:11773","gene_name":"transforming growth factor beta receptor 2","omim_gene":["190182"],"alias_name":null,"gene_symbol":"TGFBR2","hgnc_symbol":"TGFBR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:30647994-30735634","ensembl_id":"ENSG00000163513"}},"GRch38":{"90":{"location":"3:30606502-30694142","ensembl_id":"ENSG00000163513"}}},"hgnc_date_symbol_changed":"1993-09-30"},"entity_type":"gene","entity_name":"TGFBR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Loeys-Dietz syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAP","ULG5"],"biotype":"protein_coding","hgnc_id":"HGNC:24624","gene_name":"SIL1 nucleotide exchange factor","omim_gene":["608005"],"alias_name":null,"gene_symbol":"SIL1","hgnc_symbol":"SIL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138282409-138629246","ensembl_id":"ENSG00000120725"}},"GRch38":{"90":{"location":"5:138946720-139293557","ensembl_id":"ENSG00000120725"}}},"hgnc_date_symbol_changed":"2005-09-01"},"entity_type":"gene","entity_name":"SIL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Marinesco-Sjogren 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":["VGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:1073","gene_name":"bone morphogenetic protein 6","omim_gene":["112266"],"alias_name":null,"gene_symbol":"BMP6","hgnc_symbol":"BMP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:7727030-7881655","ensembl_id":"ENSG00000153162"}},"GRch38":{"90":{"location":"6:7726797-7881422","ensembl_id":"ENSG00000153162"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"BMP6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26582087"],"evidence":["Expert Review Amber","NHS Genomic Medicine Service","Genomics England PanelApp"],"phenotypes":["{Iron overload, susceptibility to} 620121"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3469,"hash_id":null,"name":"Metal Metabolism Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause inborn errors of molybdenum, copper, iron, manganese, zinc, selenium, and magnesium metabolism.  \r\nThis panel was based on the Genomics England/NHS Genomics Medicine Service 'Iron metabolism disorders' panel. It is part of the Metabolic Disorders Superpanel.","status":"public","version":"0.54","version_created":"2026-02-17T14:35:14.331246+11:00","relevant_disorders":["Abnormality of iron homeostasis","HP:0011031;Abnormal blood transition element cation concentration","HP:0011030"],"stats":{"number_of_genes":51,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BABL","LIPO"],"biotype":"protein_coding","hgnc_id":"HGNC:5009","gene_name":"high mobility group AT-hook 2","omim_gene":["600698"],"alias_name":null,"gene_symbol":"HMGA2","hgnc_symbol":"HMGA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66217911-66360075","ensembl_id":"ENSG00000149948"}},"GRch38":{"90":{"location":"12:65824131-65966295","ensembl_id":"ENSG00000149948"}}},"hgnc_date_symbol_changed":"2002-07-26"},"entity_type":"gene","entity_name":"HMGA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25809938","29453418","29655892","33482836"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Silver-Russell syndrome 5, MIM# 618908","MONDO:0020795"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HP10481"],"biotype":"protein_coding","hgnc_id":"HGNC:13530","gene_name":"transmembrane protein 5","omim_gene":["605862"],"alias_name":null,"gene_symbol":"TMEM5","hgnc_symbol":"TMEM5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:64173583-64203338","ensembl_id":"ENSG00000118600"}},"GRch38":{"90":{"location":"12:63779803-63809558","ensembl_id":"ENSG00000118600"}}},"hgnc_date_symbol_changed":"2000-09-20"},"entity_type":"gene","entity_name":"TMEM5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23217329","23519211","30017359","27733679","27212206"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14937"],"biotype":"protein_coding","hgnc_id":"HGNC:13841","gene_name":"adhesion G protein-coupled receptor G6","omim_gene":["612243"],"alias_name":null,"gene_symbol":"ADGRG6","hgnc_symbol":"ADGRG6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:142622991-142767403","ensembl_id":"ENSG00000112414"}},"GRch38":{"90":{"location":"6:142301854-142446266","ensembl_id":"ENSG00000112414"}}},"hgnc_date_symbol_changed":"2015-03-03"},"entity_type":"gene","entity_name":"ADGRG6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30549416","26004201"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Lethal congenital contracture syndrome 9, OMIM #616503"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HE1","NP-C2","EDDM1"],"biotype":"protein_coding","hgnc_id":"HGNC:14537","gene_name":"NPC intracellular cholesterol transporter 2","omim_gene":["601015"],"alias_name":["epididymal protein 1"],"gene_symbol":"NPC2","hgnc_symbol":"NPC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74942895-74960880","ensembl_id":"ENSG00000119655"}},"GRch38":{"90":{"location":"14:74476192-74494177","ensembl_id":"ENSG00000119655"}}},"hgnc_date_symbol_changed":"2001-05-11"},"entity_type":"gene","entity_name":"NPC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29928259"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert list"],"phenotypes":["Niemann-pick disease, type C2, MIM# 607625"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BCD541","SMNT","SMA1","SMA2","SMA3","GEMIN1","TDRD16A"],"biotype":"protein_coding","hgnc_id":"HGNC:11117","gene_name":"survival of motor neuron 1, telomeric","omim_gene":["600354"],"alias_name":["gemin-1","tudor domain containing 16A"],"gene_symbol":"SMN1","hgnc_symbol":"SMN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70220768-70249769","ensembl_id":"ENSG00000172062"}},"GRch38":{"90":{"location":"5:70925030-70953942","ensembl_id":"ENSG00000172062"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"SMN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32644125","11826188","32644120"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Spinal muscular atrophy 253400","Spinal muscular atrophy 271150","Spinal muscular atrophy 253550","Spinal muscular atrophy 253300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MLCK","smMLCK","MYLK1","MLCK1"],"biotype":"protein_coding","hgnc_id":"HGNC:7590","gene_name":"myosin light chain kinase","omim_gene":["600922"],"alias_name":["smooth muscle myosin light chain kinase"],"gene_symbol":"MYLK","hgnc_symbol":"MYLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:123328896-123603178","ensembl_id":"ENSG00000065534"}},"GRch38":{"90":{"location":"3:123610049-123884331","ensembl_id":"ENSG00000065534"}}},"hgnc_date_symbol_changed":"1995-07-14"},"entity_type":"gene","entity_name":"MYLK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28602422"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7216","gene_name":"mannose phosphate isomerase","omim_gene":["154550"],"alias_name":["mannose-6-phosphate isomerase"],"gene_symbol":"MPI","hgnc_symbol":"MPI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75182346-75191798","ensembl_id":"ENSG00000178802"}},"GRch38":{"90":{"location":"15:74890005-74902219","ensembl_id":"ENSG00000178802"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MPI","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12414827","9585601","10980531","33098580","33204592","32905087","32266963","30242110"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["MPI-CDG, MONDO:0011257","Congenital disorder of glycosylation, type Ib, OMIM:602579"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["msk"],"biotype":"protein_coding","hgnc_id":"HGNC:11142","gene_name":"salt inducible kinase 1","omim_gene":["605705"],"alias_name":["myocardial SNF1-like kinase"],"gene_symbol":"SIK1","hgnc_symbol":"SIK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44834395-44847008","ensembl_id":"ENSG00000142178"}},"GRch38":{"90":{"location":"21:43414515-43427128","ensembl_id":"ENSG00000142178"}}},"hgnc_date_symbol_changed":"2008-12-23"},"entity_type":"gene","entity_name":"SIK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["25839329"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Developmental and epileptic encephalopathy 30 (MIM#616341)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PR01238","GRX5"],"biotype":"protein_coding","hgnc_id":"HGNC:20134","gene_name":"glutaredoxin 5","omim_gene":["609588"],"alias_name":null,"gene_symbol":"GLRX5","hgnc_symbol":"GLRX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95999840-96011061","ensembl_id":"ENSG00000182512"}},"GRch38":{"90":{"location":"14:95533503-95544724","ensembl_id":"ENSG00000182512"}}},"hgnc_date_symbol_changed":"2005-11-11"},"entity_type":"gene","entity_name":"GLRX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0233"],"biotype":"protein_coding","hgnc_id":"HGNC:28993","gene_name":"piezo type mechanosensitive ion channel component 1","omim_gene":["611184"],"alias_name":null,"gene_symbol":"PIEZO1","hgnc_symbol":"PIEZO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88781751-88851619","ensembl_id":"ENSG00000103335"}},"GRch38":{"90":{"location":"16:88715343-88785211","ensembl_id":"ENSG00000103335"}}},"hgnc_date_symbol_changed":"2011-08-31"},"entity_type":"gene","entity_name":"PIEZO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 26333996"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Lymphatic malformation 6, MIM#616843"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PSF1","RING4","D6S114E"],"biotype":"protein_coding","hgnc_id":"HGNC:43","gene_name":"transporter 1, ATP binding cassette subfamily B member","omim_gene":["170260"],"alias_name":null,"gene_symbol":"TAP1","hgnc_symbol":"TAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32812986-32821755","ensembl_id":"ENSG00000168394"}},"GRch38":{"90":{"location":"6:32845209-32853978","ensembl_id":"ENSG00000168394"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"TAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30189467","10074494","28161407","36839544","16087697","10931128"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["MHC class I deficiency 1, MIM #604571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["E2A","ITF1","MGC129647","MGC129648","bHLHb21","VDIR","E47"],"biotype":"protein_coding","hgnc_id":"HGNC:11633","gene_name":"transcription factor 3","omim_gene":["147141"],"alias_name":["transcription factor E2-alpha","immunoglobulin transcription factor 1","kappa-E2-binding factor","E2A immunoglobulin enhancer-binding factor E12/E47","VDR interacting repressor"],"gene_symbol":"TCF3","hgnc_symbol":"TCF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1609291-1652604","ensembl_id":"ENSG00000071564"}},"GRch38":{"90":{"location":"19:1609290-1652605","ensembl_id":"ENSG00000071564"}}},"hgnc_date_symbol_changed":"1990-07-26"},"entity_type":"gene","entity_name":"TCF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Agammaglobulinaemia 8, autosomal dominant, MIM# 616941","Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp761P1121"],"biotype":"protein_coding","hgnc_id":"HGNC:25439","gene_name":"transport and golgi organization 2 homolog","omim_gene":["616830"],"alias_name":null,"gene_symbol":"TANGO2","hgnc_symbol":"TANGO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:20004537-20053449","ensembl_id":"ENSG00000183597"}},"GRch38":{"90":{"location":"22:20017014-20065926","ensembl_id":"ENSG00000183597"}}},"hgnc_date_symbol_changed":"2012-12-13"},"entity_type":"gene","entity_name":"TANGO2","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"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":["NPTIIc","FLJ38680"],"biotype":"protein_coding","hgnc_id":"HGNC:20305","gene_name":"solute carrier family 34 member 3","omim_gene":["609826"],"alias_name":null,"gene_symbol":"SLC34A3","hgnc_symbol":"SLC34A3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140125209-140131006","ensembl_id":"ENSG00000198569"}},"GRch38":{"90":{"location":"9:137230757-137236554","ensembl_id":"ENSG00000198569"}}},"hgnc_date_symbol_changed":"2003-08-08"},"entity_type":"gene","entity_name":"SLC34A3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32524022"],"evidence":["Expert Review Green","KidGen_CalcPhos v38.1.0","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypophosphataemic rickets with hypercalciuria, (MIM#241530)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BPTP3","SH-PTP2","SHP-2","PTP2C","SHP2"],"biotype":"protein_coding","hgnc_id":"HGNC:9644","gene_name":"protein tyrosine phosphatase, non-receptor type 11","omim_gene":["176876"],"alias_name":null,"gene_symbol":"PTPN11","hgnc_symbol":"PTPN11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112856155-112947717","ensembl_id":"ENSG00000179295"}},"GRch38":{"90":{"location":"12:112418351-112509913","ensembl_id":"ENSG00000179295"}}},"hgnc_date_symbol_changed":"1993-03-03"},"entity_type":"gene","entity_name":"PTPN11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Noonan syndrome 1, MIM# 163950"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD42a","GPIX"],"biotype":"protein_coding","hgnc_id":"HGNC:4444","gene_name":"glycoprotein IX platelet","omim_gene":["173515"],"alias_name":["platelet glycoprotein IX"],"gene_symbol":"GP9","hgnc_symbol":"GP9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128779610-128781249","ensembl_id":"ENSG00000169704"}},"GRch38":{"90":{"location":"3:129060767-129062406","ensembl_id":"ENSG00000169704"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"GP9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32030720","8049428","33553065","31484196"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bernard-Soulier syndrome, type C, MIM# 231200"],"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":["UGT1A"],"biotype":"protein_coding","hgnc_id":"HGNC:12530","gene_name":"UDP glucuronosyltransferase family 1 member A1","omim_gene":["191740"],"alias_name":null,"gene_symbol":"UGT1A1","hgnc_symbol":"UGT1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:234526291-234681956","ensembl_id":"ENSG00000241635"}},"GRch38":{"90":{"location":"2:233760248-233773299","ensembl_id":"ENSG00000241635"}}},"hgnc_date_symbol_changed":"1989-02-13"},"entity_type":"gene","entity_name":"UGT1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12983120","37585628","1734381","5411133","9413009"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport)","Crigler-Najjar syndrome, type I MIM#218800","Crigler-Najjar syndrome, type II MIM#606785"],"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":["RAB3GAP","KIAA0066","RAB3GAP130","WARBM1"],"biotype":"protein_coding","hgnc_id":"HGNC:17063","gene_name":"RAB3 GTPase activating protein catalytic subunit 1","omim_gene":["602536"],"alias_name":null,"gene_symbol":"RAB3GAP1","hgnc_symbol":"RAB3GAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135809835-135933964","ensembl_id":"ENSG00000115839"}},"GRch38":{"90":{"location":"2:135052265-135176394","ensembl_id":"ENSG00000115839"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15696165","20512159","23420520","30730599"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Warburg micro syndrome 1, MIM# 600118","Martsolf syndrome 2, MIM# 619420"],"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":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Bloom syndrome, MONDO:0008876","Bloom syndrome, MIM#210900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour 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\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\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":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Ly74","TROP1","GA733-2","EGP34","EGP40","EGP-2","KSA","CD326","Ep-CAM","HEA125","KS1/4","MK-1","MH99","MOC31","323/A3","17-1A","TACST-1","CO-17A","ESA"],"biotype":"protein_coding","hgnc_id":"HGNC:11529","gene_name":"epithelial cell adhesion molecule","omim_gene":["185535"],"alias_name":null,"gene_symbol":"EPCAM","hgnc_symbol":"EPCAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47572297-47614740","ensembl_id":"ENSG00000119888"}},"GRch38":{"90":{"location":"2:47345158-47387601","ensembl_id":"ENSG00000119888"}}},"hgnc_date_symbol_changed":"2008-12-16"},"entity_type":"gene","entity_name":"EPCAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Lynch syndrome 8, MONDO:0013196","Lynch syndrome 8, MIM#613244"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\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 colorectal cancer and polyposis 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":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["APRF"],"biotype":"protein_coding","hgnc_id":"HGNC:11364","gene_name":"signal transducer and activator of transcription 3","omim_gene":["102582"],"alias_name":null,"gene_symbol":"STAT3","hgnc_symbol":"STAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40465342-40540586","ensembl_id":"ENSG00000168610"}},"GRch38":{"90":{"location":"17:42313324-42388568","ensembl_id":"ENSG00000168610"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36228738"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoimmune disease, multisystem, infantile-onset, 1\tMIM#615952","STAT3-related early-onset multisystem autoimmune disease MONDO:0014414"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4389,"hash_id":null,"name":"Autoimmune Lymphoproliferative Syndrome","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel has been compiled based on the following study:\r\n\r\nGenetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)","status":"public","version":"1.12","version_created":"2026-02-26T20:52:40.847942+11:00","relevant_disorders":[],"stats":{"number_of_genes":20,"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":[]}]}