{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=36","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=34","results":[{"gene_data":{"alias":["D11S812E","AN","WAGR"],"biotype":"protein_coding","hgnc_id":"HGNC:8620","gene_name":"paired box 6","omim_gene":["607108"],"alias_name":["aniridia, keratitis"],"gene_symbol":"PAX6","hgnc_symbol":"PAX6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:31806340-31839509","ensembl_id":"ENSG00000007372"}},"GRch38":{"90":{"location":"11:31784779-31818062","ensembl_id":"ENSG00000007372"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PAX6","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["12731001"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["?Coloboma of optic nerve MIM# 120430","?Coloboma, ocular MIM# 120200","?Morning glory disc anomaly MIM# 120430","Aniridia MIM# 106210","Anterior segment dysgenesis 5, multiple subtypes MIM# 604229","Cataract with late-onset corneal dystrophy MIM# 106210","Foveal hypoplasia 1 MIM# 136520","Keratitis MIM# 148190","Optic nerve hypoplasia MIM# 165550"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":18,"hash_id":null,"name":"Polymicrogyria and Schizencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. It is maintained by VCGS.\r\n\r\nPlease consider the broader 'Malformations of cortical development' superpanel, particularly in the presence of complex or atypical imaging findings.","status":"public","version":"0.204","version_created":"2025-12-18T09:49:46.643708+11:00","relevant_disorders":["Polymicrogyria","HP:0002126;Schizencephaly","HP:0010636"],"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30169","H2-ALPHA"],"biotype":"protein_coding","hgnc_id":"HGNC:12407","gene_name":"tubulin alpha 4a","omim_gene":["191110"],"alias_name":null,"gene_symbol":"TUBA4A","hgnc_symbol":"TUBA4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220114433-220142892","ensembl_id":"ENSG00000127824"}},"GRch38":{"90":{"location":"2:219249711-219278170","ensembl_id":"ENSG00000127824"}}},"hgnc_date_symbol_changed":"2007-02-12"},"entity_type":"gene","entity_name":"TUBA4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25374358","25893256","28069311","38463699","38884572","26675813"],"evidence":["Expert Review Green","Royal Melbourne Hospital","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, MIM# 616208"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. It is maintained by VCGS and RMH.\r\n\r\nGenes causing spinal muscular atrophies (SMAs) with congenital/childhood onset are not included in this panel but can be found in the Hereditary Neuropathy panels.\r\n\r\nThe original panel (as 17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.48","version_created":"2026-03-31T16:37:58.241144+11:00","relevant_disorders":[],"stats":{"number_of_genes":79,"number_of_strs":4,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:719","gene_name":"arylsulfatase E (chondrodysplasia punctata 1)","omim_gene":["300180"],"alias_name":null,"gene_symbol":"ARSE","hgnc_symbol":"ARSE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:2852699-2886286","ensembl_id":"ENSG00000157399"}},"GRch38":{"90":{"location":"X:2934632-2968310","ensembl_id":"ENSG00000157399"}}},"hgnc_date_symbol_changed":"1995-04-26"},"entity_type":"gene","entity_name":"ARSE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":["Chondrodysplasia punctata, X-linked recessive, MIM# 302950"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["new gene name"],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. It is maintained by VCGS.\r\n\r\nIt contains genes associated with conditions primarily affecting bone and cartilage that present prenatally.\r\n\r\nPlease consider the larger Fetal Anomalies and Skeletal Dysplasia panels, or other specific panels such as Growth Failure, Craniosynostosis, Radial ray abnormalities, Polydactyly or Limb and Digital Malformations depending on the clinical presentation.","status":"public","version":"0.246","version_created":"2026-03-02T10:22:48.751874+11:00","relevant_disorders":[],"stats":{"number_of_genes":157,"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."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ25513","DKFZp547J199","IFITMD1","FICCA","DSPB3","PKC","EKD1"],"biotype":"protein_coding","hgnc_id":"HGNC:30500","gene_name":"proline rich transmembrane protein 2","omim_gene":["614386"],"alias_name":["interferon induced transmembrane protein domain containing 1"],"gene_symbol":"PRRT2","hgnc_symbol":"PRRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29823177-29827201","ensembl_id":"ENSG00000167371"}},"GRch38":{"90":{"location":"16:29811382-29815892","ensembl_id":"ENSG00000167371"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"PRRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22101681","22744660","31124310","26561923","24928127"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["PRRT2-associated paroxysmal movement disorder MONDO:0100556"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":40,"hash_id":null,"name":"Alternating Hemiplegia and Hemiplegic Migraine","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH.\r\n\r\nPlease also refer to the Episodic Ataxia and Paroxysmal Dyskinesia panels.","status":"public","version":"1.0","version_created":"2026-03-24T16:22:18.980474+11:00","relevant_disorders":["Hemiplegia","HP:0002301;Migraine","HP:0002076"],"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cernunnos","XLF","FLJ12610"],"biotype":"protein_coding","hgnc_id":"HGNC:25737","gene_name":"non-homologous end joining factor 1","omim_gene":["611290"],"alias_name":["XRCC4-like factor"],"gene_symbol":"NHEJ1","hgnc_symbol":"NHEJ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219940039-220025587","ensembl_id":"ENSG00000187736"}},"GRch38":{"90":{"location":"2:219075317-219160865","ensembl_id":"ENSG00000187736"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"NHEJ1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37580330"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Microphthalmia/coloboma, MIM# 13\t620968"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic"],"panel":{"id":42,"hash_id":null,"name":"Anophthalmia_Microphthalmia_Coloboma","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with isolated and syndromic anophthalmia, microphthalmia and coloboma.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"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":[]},{"gene_data":{"alias":["TMEM226"],"biotype":"protein_coding","hgnc_id":"HGNC:33778","gene_name":"myomaker, myoblast fusion factor","omim_gene":["615345"],"alias_name":["transmembrane protein 226"],"gene_symbol":"MYMK","hgnc_symbol":"MYMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136379708-136393734","ensembl_id":"ENSG00000187616"}},"GRch38":{"90":{"location":"9:133514586-133528612","ensembl_id":"ENSG00000187616"}}},"hgnc_date_symbol_changed":"2017-05-11"},"entity_type":"gene","entity_name":"MYMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28681861"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Carey-Fineman-Ziter syndrome\t254940"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD110","TPOR"],"biotype":"protein_coding","hgnc_id":"HGNC:7217","gene_name":"MPL proto-oncogene, thrombopoietin receptor","omim_gene":["159530"],"alias_name":null,"gene_symbol":"MPL","hgnc_symbol":"MPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43803478-43818443","ensembl_id":"ENSG00000117400"}},"GRch38":{"90":{"location":"1:43337849-43352772","ensembl_id":"ENSG00000117400"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"MPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11133753"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Thrombocytopenia, congenital amegakaryocytic, MIM#\t604498"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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":["H6","NKX5-3"],"biotype":"protein_coding","hgnc_id":"HGNC:5017","gene_name":"H6 family homeobox 1","omim_gene":["142992"],"alias_name":null,"gene_symbol":"HMX1","hgnc_symbol":"HMX1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8847802-8873543","ensembl_id":"ENSG00000215612"}},"GRch38":{"90":{"location":"4:8846076-8871817","ensembl_id":"ENSG00000215612"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"HMX1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18423520","25574057","33465110","32552830","31691317"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Oculoauricular syndrome, MIM#612109"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCPR","TSG24","APC1"],"biotype":"protein_coding","hgnc_id":"HGNC:19988","gene_name":"anaphase promoting complex subunit 1","omim_gene":["608473"],"alias_name":null,"gene_symbol":"ANAPC1","hgnc_symbol":"ANAPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:112523848-112642267","ensembl_id":"ENSG00000153107"}},"GRch38":{"90":{"location":"2:111766271-111884690","ensembl_id":"ENSG00000153107"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"ANAPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31303264"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Rothmund Thomson syndrome type 1, OMIM 618625"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic"],"panel":{"id":66,"hash_id":null,"name":"Cataract","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with cataract as a feature, and was created by merging the panels developed by VCGS and RMH.\r\n\r\nCataracts due to monogenic conditions are often present at birth or appear in childhood or young adulthood. The lens alone may be involved, or lens opacities may be associated with other ocular anomalies, such as microphthalmia, aniridia, or other anterior chamber developmental anomalies. Cataracts may also be part of multisystem genetic disorders such as syndromes or metabolic conditions.\r\n\r\nThis panel has been compared against the Genomics England/NHS GMS panel Bilateral congenital or childhood onset cataracts (Version 7.5) on 29/12/2025 with all discrepancies reviewed.\r\n\r\nUpdated following literature review in February 2026.","status":"public","version":"1.3","version_created":"2026-03-31T18:43:23.306556+11:00","relevant_disorders":["Cataract","HP:0000518"],"stats":{"number_of_genes":258,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GNT-II"],"biotype":"protein_coding","hgnc_id":"HGNC:7045","gene_name":"mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","omim_gene":["602616"],"alias_name":null,"gene_symbol":"MGAT2","hgnc_symbol":"MGAT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50087489-50090198","ensembl_id":"ENSG00000168282"}},"GRch38":{"90":{"location":"14:49620795-49623481","ensembl_id":"ENSG00000168282"}}},"hgnc_date_symbol_changed":"1993-02-16"},"entity_type":"gene","entity_name":"MGAT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8808595","11228641","22105986","33044030","31420886"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIa, MIM# 212066","MGAT2-CDG, MONDO:0008908"],"mode_of_inheritance":"BIALLELIC, autosomal or 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panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["18199743","16909395"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Peters-plus syndrome (MIM# 261540)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic 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panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP434G145"],"biotype":"protein_coding","hgnc_id":"HGNC:18654","gene_name":"rotatin","omim_gene":["610436"],"alias_name":null,"gene_symbol":"RTTN","hgnc_symbol":"RTTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:67671029-67873181","ensembl_id":"ENSG00000176225"}},"GRch38":{"90":{"location":"18:70003031-70205945","ensembl_id":"ENSG00000176225"}}},"hgnc_date_symbol_changed":"2002-07-11"},"entity_type":"gene","entity_name":"RTTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38693247"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":73,"hash_id":null,"name":"Cerebral Palsy","disease_group":"Neurology and neurodevelopmental 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10485","gene_name":"ryanodine receptor 3","omim_gene":["180903"],"alias_name":null,"gene_symbol":"RYR3","hgnc_symbol":"RYR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:33603163-34158303","ensembl_id":"ENSG00000198838"}},"GRch38":{"90":{"location":"15:33310945-33866121","ensembl_id":"ENSG00000198838"}}},"hgnc_date_symbol_changed":"1993-05-12"},"entity_type":"gene","entity_name":"RYR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39762984","41022857"],"evidence":["Expert Review Green","Literature"],"phenotypes":["congenital heart disease MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart 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disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS.\r\n\r\nIt includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause cholestasis.\r\n\r\nPlease also consider using the Liver Failure_Paediatric panel if clinically indicated.\r\n\r\nThe content of this panel has been compared against the Genomics England PanelApp 'Cholestasis' panel V1.21, with all discrepancies reviewed and resolved, and reciprocal feedback provided to Genomics England.","status":"public","version":"1.10","version_created":"2026-03-26T17:26:27.105917+11:00","relevant_disorders":["Cholestasis HP:0001396"],"stats":{"number_of_genes":99,"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":["Atoh5","Math4B","ngn3","bHLHa7"],"biotype":"protein_coding","hgnc_id":"HGNC:13806","gene_name":"neurogenin 3","omim_gene":["604882"],"alias_name":null,"gene_symbol":"NEUROG3","hgnc_symbol":"NEUROG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71331454-71332994","ensembl_id":"ENSG00000122859"}},"GRch38":{"90":{"location":"10:69571698-69573238","ensembl_id":"ENSG00000122859"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"NEUROG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16855267","32574610","28724572","21490072"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diarrhoea 4, malabsorptive, congenital, MIM# 610370"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":89,"hash_id":null,"name":"Congenital Diarrhoea","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nCongenital diarrhoeal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life, and frequent requirement for parenteral nutrition. Severe chronic diarrhoea may be the main clinical manifestation or it may be a component of a more complex multi-organ or systemic disease.\r\n\r\nCDDs can be classified in four groups: (i) defects of digestion, absorption and transport of nutrients and electrolytes; (ii) defects of enterocyte differentiation and polarisation; (iii) defects of enteroendocrine cell differentiation; (iv) defects of modulation of intestinal immune response.","status":"public","version":"1.30","version_created":"2025-11-20T10:28:34.792243+11:00","relevant_disorders":["Diarrhea HP:0002014"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKND"],"biotype":"protein_coding","hgnc_id":"HGNC:2536","gene_name":"cathepsin K","omim_gene":["601105"],"alias_name":null,"gene_symbol":"CTSK","hgnc_symbol":"CTSK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:150768684-150780799","ensembl_id":"ENSG00000143387"}},"GRch38":{"90":{"location":"1:150796208-150808323","ensembl_id":"ENSG00000143387"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"CTSK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21968522","23175007"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pycnodysostosis, MIM#265800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DAX1","AHCH"],"biotype":"protein_coding","hgnc_id":"HGNC:7960","gene_name":"nuclear receptor subfamily 0 group B member 1","omim_gene":["300473"],"alias_name":null,"gene_symbol":"NR0B1","hgnc_symbol":"NR0B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:30322323-30327715","ensembl_id":"ENSG00000169297"}},"GRch38":{"90":{"location":"X:30304206-30309598","ensembl_id":"ENSG00000169297"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NR0B1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["7951319","28295047"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["46XY sex reversal 2, dosage-sensitive, MIM# 300018"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11767"],"biotype":"protein_coding","hgnc_id":"HGNC:25678","gene_name":"EF-hand calcium binding domain 1","omim_gene":null,"alias_name":null,"gene_symbol":"EFCAB1","hgnc_symbol":"EFCAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:49623348-49647870","ensembl_id":"ENSG00000034239"}},"GRch38":{"90":{"location":"8:48710789-48735311","ensembl_id":"ENSG00000034239"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"EFCAB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36727596"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ciliary dyskinesia, primary, 53, MIM# 620642"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":108,"hash_id":null,"name":"Heterotaxy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Laterality disorders and isomerism' panel V1.19, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.45","version_created":"2026-03-17T16:09:39.911604+11:00","relevant_disorders":["Heterotaxy","HP:0030853; Dextrocardia","HP:0001651; Asplenia","HP:0001746; Abnormal spatial orientation of cardiac segments","HP:0011534; Polysplenia","HP:0001748;Midline liver","HP:0034188"],"stats":{"number_of_genes":67,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SCS","H-twist","BPES2","bHLHa38","CRS1"],"biotype":"protein_coding","hgnc_id":"HGNC:12428","gene_name":"twist family bHLH transcription factor 1","omim_gene":["601622"],"alias_name":["Saethre-Chotzen syndrome"],"gene_symbol":"TWIST1","hgnc_symbol":"TWIST1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:19060614-19157295","ensembl_id":"ENSG00000122691"}},"GRch38":{"90":{"location":"7:19020991-19117672","ensembl_id":"ENSG00000122691"}}},"hgnc_date_symbol_changed":"2003-03-28"},"entity_type":"gene","entity_name":"TWIST1","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":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DBA","S19"],"biotype":"protein_coding","hgnc_id":"HGNC:10402","gene_name":"ribosomal protein S19","omim_gene":["603474"],"alias_name":["Diamond-Blackfan anemia"],"gene_symbol":"RPS19","hgnc_symbol":"RPS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42363988-42376994","ensembl_id":"ENSG00000105372"}},"GRch38":{"90":{"location":"19:41859918-41872926","ensembl_id":"ENSG00000105372"}}},"hgnc_date_symbol_changed":"1998-07-22"},"entity_type":"gene","entity_name":"RPS19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23349008"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Diamond-Blackfan anemia 1, MIM#\t105650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["CLAN1","ipaf","CLANA","CLANB","CLANC","CLAND","CLR2.1","CLAN"],"biotype":"protein_coding","hgnc_id":"HGNC:16412","gene_name":"NLR family CARD domain containing 4","omim_gene":["606831"],"alias_name":["nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4","NOD-like receptor C4"],"gene_symbol":"NLRC4","hgnc_symbol":"NLRC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:32449522-32490923","ensembl_id":"ENSG00000091106"}},"GRch38":{"90":{"location":"2:32224453-32265854","ensembl_id":"ENSG00000091106"}}},"hgnc_date_symbol_changed":"2006-12-08"},"entity_type":"gene","entity_name":"NLRC4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["25217959","25217960"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Autoinflammation with infantile enterocolitis, MIM# 616050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["RING10","D6S216E","PSMB5i","beta5i"],"biotype":"protein_coding","hgnc_id":"HGNC:9545","gene_name":"proteasome subunit beta 8","omim_gene":["177046"],"alias_name":null,"gene_symbol":"PSMB8","hgnc_symbol":"PSMB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32808494-32812480","ensembl_id":"ENSG00000204264"}},"GRch38":{"90":{"location":"6:32840717-32844703","ensembl_id":"ENSG00000204264"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"PSMB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129723","21881205","21852578","21953331"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 1, MIM# 256040","MONDO:0054698"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"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":["KIAA0309","EAF1","SWR1","DOMO1"],"biotype":"protein_coding","hgnc_id":"HGNC:16974","gene_name":"Snf2 related CREBBP activator protein","omim_gene":["611421"],"alias_name":["Swi2/Snf2-related ATPase homolog (S. cerevisiae)","domino homolog 1 (Drosophila)"],"gene_symbol":"SRCAP","hgnc_symbol":"SRCAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:30709530-30755602","ensembl_id":"ENSG00000080603"}},"GRch38":{"90":{"location":"16:30698209-30741409","ensembl_id":"ENSG00000080603"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"SRCAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33909990"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Floating-Harbor syndrome MIM#136140","Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM#\t619595"],"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":["KIAA1858"],"biotype":"protein_coding","hgnc_id":"HGNC:23216","gene_name":"zinc finger protein 469","omim_gene":["612078"],"alias_name":null,"gene_symbol":"ZNF469","hgnc_symbol":"ZNF469","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88493879-88507165","ensembl_id":"ENSG00000225614"}},"GRch38":{"90":{"location":"16:88427471-88440757","ensembl_id":"ENSG00000225614"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ZNF469","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18452888","19661234","20938016","21664999","32671420"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Brittle cornea syndrome 1, MIM# 229200"],"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. 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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":["PMCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:814","gene_name":"ATPase plasma membrane Ca2+ transporting 1","omim_gene":["108731"],"alias_name":["plasma membrane calcium-transporting ATPase 1"],"gene_symbol":"ATP2B1","hgnc_symbol":"ATP2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89981828-90103077","ensembl_id":"ENSG00000070961"}},"GRch38":{"90":{"location":"12:89588049-89709300","ensembl_id":"ENSG00000070961"}}},"hgnc_date_symbol_changed":"1990-10-05"},"entity_type":"gene","entity_name":"ATP2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35358416"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 66, MIM# 619910"],"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. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:29843","gene_name":"NMDA receptor synaptonuclear signaling and neuronal migration factor","omim_gene":["608137"],"alias_name":null,"gene_symbol":"NSMF","hgnc_symbol":"NSMF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140342022-140353786","ensembl_id":"ENSG00000165802"}},"GRch38":{"90":{"location":"9:137447573-137459334","ensembl_id":"ENSG00000165802"}}},"hgnc_date_symbol_changed":"2013-01-14"},"entity_type":"gene","entity_name":"NSMF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15362570","17235395","21700882"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838"],"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":["Nav1.7","PN1","NE-NA","NENA","ETHA"],"biotype":"protein_coding","hgnc_id":"HGNC:10597","gene_name":"sodium voltage-gated channel alpha subunit 9","omim_gene":["603415"],"alias_name":null,"gene_symbol":"SCN9A","hgnc_symbol":"SCN9A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:167051695-167232503","ensembl_id":"ENSG00000169432"}},"GRch38":{"90":{"location":"2:166195185-166375993","ensembl_id":"ENSG00000169432"}}},"hgnc_date_symbol_changed":"1996-04-12"},"entity_type":"gene","entity_name":"SCN9A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Erythermalgia, primary, MIM# 133020","Insensitivity to pain, congenital, MIM# 243000","Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000","Paroxysmal extreme pain disorder, MIM# 167400","Small fiber neuropathy,MIM# 133020"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10808","gene_name":"sarcoglycan epsilon","omim_gene":["604149"],"alias_name":null,"gene_symbol":"SGCE","hgnc_symbol":"SGCE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:94214542-94285521","ensembl_id":"ENSG00000127990"}},"GRch38":{"90":{"location":"7:94585230-94656209","ensembl_id":"ENSG00000127990"}}},"hgnc_date_symbol_changed":"1999-01-11"},"entity_type":"gene","entity_name":"SGCE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11528394","12821748","16227522"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dystonia-11, myoclonic, MIM# 159900","MONDO:0008044"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","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":["SPL"],"biotype":"protein_coding","hgnc_id":"HGNC:10817","gene_name":"sphingosine-1-phosphate lyase 1","omim_gene":["603729"],"alias_name":null,"gene_symbol":"SGPL1","hgnc_symbol":"SGPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72575717-72640930","ensembl_id":"ENSG00000166224"}},"GRch38":{"90":{"location":"10:70815961-70881173","ensembl_id":"ENSG00000166224"}}},"hgnc_date_symbol_changed":"1999-02-03"},"entity_type":"gene","entity_name":"SGPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33074640"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["RENI syndrome (MIM#617575)"],"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":["VBCH","DAND6"],"biotype":"protein_coding","hgnc_id":"HGNC:13771","gene_name":"sclerostin","omim_gene":["605740"],"alias_name":null,"gene_symbol":"SOST","hgnc_symbol":"SOST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41831099-41836156","ensembl_id":"ENSG00000167941"}},"GRch38":{"90":{"location":"17:43753731-43758788","ensembl_id":"ENSG00000167941"}}},"hgnc_date_symbol_changed":"2002-02-20"},"entity_type":"gene","entity_name":"SOST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301406","35160258","21221996","17853455"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sclerosteosis 1, OMIM#269500","Craniodiaphyseal dysplasia, OMIM#122860"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["SV/CNV"],"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":["RAB3-GAP150","KIAA0839","DKFZP434D245","SPG69"],"biotype":"protein_coding","hgnc_id":"HGNC:17168","gene_name":"RAB3 GTPase activating non-catalytic protein subunit 2","omim_gene":["609275"],"alias_name":null,"gene_symbol":"RAB3GAP2","hgnc_symbol":"RAB3GAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:220321635-220445796","ensembl_id":"ENSG00000118873"}},"GRch38":{"90":{"location":"1:220148293-220272454","ensembl_id":"ENSG00000118873"}}},"hgnc_date_symbol_changed":"2005-08-23"},"entity_type":"gene","entity_name":"RAB3GAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23420520","20967465"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Warburg micro syndrome 2, MIM# 614225"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["K2p3.1","TASK","TASK-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6278","gene_name":"potassium two pore domain channel subfamily K member 3","omim_gene":["603220"],"alias_name":null,"gene_symbol":"KCNK3","hgnc_symbol":"KCNK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26915619-26956288","ensembl_id":"ENSG00000171303"}},"GRch38":{"90":{"location":"2:26692690-26733420","ensembl_id":"ENSG00000171303"}}},"hgnc_date_symbol_changed":"1997-12-12"},"entity_type":"gene","entity_name":"KCNK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36195757"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, KCNK3-related","developmental delay with sleep apnoea (DDSA)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DA1","NEM4"],"biotype":"protein_coding","hgnc_id":"HGNC:12011","gene_name":"tropomyosin 2","omim_gene":["190990"],"alias_name":["nemaline myopathy type 4"],"gene_symbol":"TPM2","hgnc_symbol":"TPM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35681989-35691017","ensembl_id":"ENSG00000198467"}},"GRch38":{"90":{"location":"9:35681992-35691020","ensembl_id":"ENSG00000198467"}}},"hgnc_date_symbol_changed":"1991-07-18"},"entity_type":"gene","entity_name":"TPM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17846275","23378224"],"evidence":["Expert Review Green","Other"],"phenotypes":["Nemaline myopathy 4, autosomal dominant (MIM#609285)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SBA2","MGC10210"],"biotype":"protein_coding","hgnc_id":"HGNC:19222","gene_name":"WD repeat and SOCS box containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"WSB2","hgnc_symbol":"WSB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:118470712-118500235","ensembl_id":"ENSG00000176871"}},"GRch38":{"90":{"location":"12:118032694-118062430","ensembl_id":"ENSG00000176871"}}},"hgnc_date_symbol_changed":"2004-02-20"},"entity_type":"gene","entity_name":"WSB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40374945"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Luo-Agrawal neurodevelopmental syndrome, MIM# 621552"],"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":["GDD1"],"biotype":"protein_coding","hgnc_id":"HGNC:27337","gene_name":"anoctamin 5","omim_gene":["608662"],"alias_name":null,"gene_symbol":"ANO5","hgnc_symbol":"ANO5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22214722-22304903","ensembl_id":"ENSG00000171714"}},"GRch38":{"90":{"location":"11:22193176-22283357","ensembl_id":"ENSG00000171714"}}},"hgnc_date_symbol_changed":"2008-08-28"},"entity_type":"gene","entity_name":"ANO5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30712070","15124103","30641283","29175271"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Gnathodiaphyseal dysplasia MIM#166260"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":147,"hash_id":null,"name":"Osteogenesis Imperfecta and Osteoporosis","disease_group":"Skeletal disorders; Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with osteogenesis imperfecta and osteoporosis. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Osteogenesis imperfecta' panel V5.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.18","version_created":"2026-02-22T14:59:29.563350+11:00","relevant_disorders":["Increased susceptibility to fractures","HP:0002659"],"stats":{"number_of_genes":48,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0288","HDAC-A","HDACA","HD4","HA6116","HDAC-4"],"biotype":"protein_coding","hgnc_id":"HGNC:14063","gene_name":"histone deacetylase 4","omim_gene":["605314"],"alias_name":null,"gene_symbol":"HDAC4","hgnc_symbol":"HDAC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:239969864-240323348","ensembl_id":"ENSG00000068024"}},"GRch38":{"90":{"location":"2:239048168-239401654","ensembl_id":"ENSG00000068024"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"HDAC4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24715439","20691407","31209962"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Brachydactyly mental retardation syndrome","Brachydactyly without intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":161,"hash_id":null,"name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with pseudohypoparathyroidism, Albright Hereditary Osteodystrophy, and phenocopy disorders.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis' panel V1.5, with all discrepancies reviewed and resolved (August 2025).","status":"public","version":"0.33","version_created":"2025-08-26T20:19:58.071270+10:00","relevant_disorders":["Pseudohypoparathyroidism","HP:0000093"],"stats":{"number_of_genes":10,"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OIASI","IFI-4"],"biotype":"protein_coding","hgnc_id":"HGNC:8086","gene_name":"2'-5'-oligoadenylate synthetase 1","omim_gene":["164350"],"alias_name":null,"gene_symbol":"OAS1","hgnc_symbol":"OAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:113344582-113369990","ensembl_id":"ENSG00000089127"}},"GRch38":{"90":{"location":"12:112906777-112933222","ensembl_id":"ENSG00000089127"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["34145065","29455859"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DWF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3497","gene_name":"EvC ciliary complex subunit 1","omim_gene":["604831"],"alias_name":null,"gene_symbol":"EVC","hgnc_symbol":"EVC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5712924-5830772","ensembl_id":"ENSG00000072840"}},"GRch38":{"90":{"location":"4:5711197-5814305","ensembl_id":"ENSG00000072840"}}},"hgnc_date_symbol_changed":"1995-04-24"},"entity_type":"gene","entity_name":"EVC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Expert Review Red","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Ellis-van Creveld syndrome, MIM#225500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"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":"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":["PP1B","PP-1B","PP1beta"],"biotype":"protein_coding","hgnc_id":"HGNC:9282","gene_name":"protein phosphatase 1 catalytic subunit beta","omim_gene":["600590"],"alias_name":null,"gene_symbol":"PPP1CB","hgnc_symbol":"PPP1CB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:28974506-29025806","ensembl_id":"ENSG00000213639"}},"GRch38":{"90":{"location":"2:28751640-28802940","ensembl_id":"ENSG00000213639"}}},"hgnc_date_symbol_changed":"1993-01-22"},"entity_type":"gene","entity_name":"PPP1CB","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["33333793","30236064"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome-like disorder with loose anagen hair 2\tMIM#617506"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4083","gene_name":"gamma-aminobutyric acid type A receptor beta3 subunit","omim_gene":["137192"],"alias_name":["GABA(A) receptor, beta 3"],"gene_symbol":"GABRB3","hgnc_symbol":"GABRB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:26788693-27184686","ensembl_id":"ENSG00000166206"}},"GRch38":{"90":{"location":"15:26543546-26939539","ensembl_id":"ENSG00000166206"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GABRB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23934111","27476654"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epileptic encephalopathy, early infantile, 43, MIM# 617113"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC24969"],"biotype":"protein_coding","hgnc_id":"HGNC:30386","gene_name":"secretory carrier membrane protein 5","omim_gene":["613766"],"alias_name":null,"gene_symbol":"SCAMP5","hgnc_symbol":"SCAMP5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:75249560-75313837","ensembl_id":"ENSG00000198794"}},"GRch38":{"90":{"location":"15:74957219-75021496","ensembl_id":"ENSG00000198794"}}},"hgnc_date_symbol_changed":"2004-02-13"},"entity_type":"gene","entity_name":"SCAMP5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31439720","33390987"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAP5","PPP1R102"],"biotype":"protein_coding","hgnc_id":"HGNC:6836","gene_name":"microtubule associated protein 1B","omim_gene":["157129"],"alias_name":["protein phosphatase 1, regulatory subunit 102"],"gene_symbol":"MAP1B","hgnc_symbol":"MAP1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:71403061-71505395","ensembl_id":"ENSG00000131711"}},"GRch38":{"90":{"location":"5:72107234-72209570","ensembl_id":"ENSG00000131711"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"MAP1B","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33772511"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","seizures","PVNH","dysmorphic features","Periventricular nodular heterotopia 9, MIM# 618918"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["YF13H12","HSCO"],"biotype":"protein_coding","hgnc_id":"HGNC:23287","gene_name":"ETHE1, persulfide dioxygenase","omim_gene":["608451"],"alias_name":null,"gene_symbol":"ETHE1","hgnc_symbol":"ETHE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:44010871-44031396","ensembl_id":"ENSG00000105755"}},"GRch38":{"90":{"location":"19:43506719-43527244","ensembl_id":"ENSG00000105755"}}},"hgnc_date_symbol_changed":"2003-12-15"},"entity_type":"gene","entity_name":"ETHE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["14732903","28933811"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Ethylmalonic encephalopathy , MIM#602473"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["trnW"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7501","gene_name":"mitochondrially encoded tRNA tryptophan","omim_gene":["590095"],"alias_name":null,"gene_symbol":"MT-TW","hgnc_symbol":"MT-TW","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}},"GRch38":{"90":{"location":"MT:5512-5579","ensembl_id":"ENSG00000210117"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TW","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7695240","9266739","9673981","12776230","15054399","18337306","19809478","26524491","23841600","30937556"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TW-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VATL","Vma3"],"biotype":"protein_coding","hgnc_id":"HGNC:855","gene_name":"ATPase H+ transporting V0 subunit 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The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AC","PHP32","FLJ21558","ACDase"],"biotype":"protein_coding","hgnc_id":"HGNC:735","gene_name":"N-acylsphingosine amidohydrolase 1","omim_gene":["613468"],"alias_name":["acylsphingosine deacylase","acid ceramidase"],"gene_symbol":"ASAH1","hgnc_symbol":"ASAH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:17913934-17942494","ensembl_id":"ENSG00000104763"}},"GRch38":{"90":{"location":"8:18055992-18084998","ensembl_id":"ENSG00000104763"}}},"hgnc_date_symbol_changed":"2002-09-13"},"entity_type":"gene","entity_name":"ASAH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Expert list"],"phenotypes":["Spinal muscular atrophy with progressive myoclonic epilepsy, 159950"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12399","gene_name":"myotilin","omim_gene":["604103"],"alias_name":null,"gene_symbol":"MYOT","hgnc_symbol":"MYOT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137203480-137223540","ensembl_id":"ENSG00000120729"}},"GRch38":{"90":{"location":"5:137867791-137887851","ensembl_id":"ENSG00000120729"}}},"hgnc_date_symbol_changed":"2005-09-07"},"entity_type":"gene","entity_name":"MYOT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30055862","21336781","15947064","10958653","15111675","16380616","33250842","32509353","29924655"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Myopathy, myofibrillar, 3\t(MIM#609200)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0699"],"biotype":"protein_coding","hgnc_id":"HGNC:17208","gene_name":"BICD cargo adaptor 2","omim_gene":["609797"],"alias_name":null,"gene_symbol":"BICD2","hgnc_symbol":"BICD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:95473645-95527094","ensembl_id":"ENSG00000185963"}},"GRch38":{"90":{"location":"9:92711363-92764812","ensembl_id":"ENSG00000185963"}}},"hgnc_date_symbol_changed":"2003-11-14"},"entity_type":"gene","entity_name":"BICD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27784775","28635954","31561939","29306765"],"evidence":["Expert Review Green","Expert list","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["distal myopathy MONDO:0018949"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:333","gene_name":"angiotensinogen","omim_gene":["106150"],"alias_name":["alpha-1 antiproteinase, antitrypsin"],"gene_symbol":"AGT","hgnc_symbol":"AGT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:230838269-230850043","ensembl_id":"ENSG00000135744"}},"GRch38":{"90":{"location":"1:230702523-230714297","ensembl_id":"ENSG00000135744"}}},"hgnc_date_symbol_changed":"2001-06-29"},"entity_type":"gene","entity_name":"AGT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Renal tubular dysgenesis, 267430 (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":["CLRP","CSNB1A"],"biotype":"protein_coding","hgnc_id":"HGNC:8082","gene_name":"nyctalopin","omim_gene":["300278"],"alias_name":null,"gene_symbol":"NYX","hgnc_symbol":"NYX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41306687-41334963","ensembl_id":"ENSG00000188937"}},"GRch38":{"90":{"location":"X:41447434-41475710","ensembl_id":"ENSG00000188937"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"NYX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TAD3"],"biotype":"protein_coding","hgnc_id":"HGNC:25151","gene_name":"adenosine deaminase, tRNA specific 3","omim_gene":["615302"],"alias_name":["tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"],"gene_symbol":"ADAT3","hgnc_symbol":"ADAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1905377-1913444","ensembl_id":"ENSG00000213638"}},"GRch38":{"90":{"location":"19:1905378-1913447","ensembl_id":"ENSG00000213638"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"ADAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, autosomal recessive 36, 615286 (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":["TUWD12","FLJ14923"],"biotype":"protein_coding","hgnc_id":"HGNC:30836","gene_name":"POC1 centriolar protein B","omim_gene":["614784"],"alias_name":null,"gene_symbol":"POC1B","hgnc_symbol":"POC1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:89813495-89919801","ensembl_id":"ENSG00000139323"}},"GRch38":{"90":{"location":"12:89419718-89526024","ensembl_id":"ENSG00000139323"}}},"hgnc_date_symbol_changed":"2010-03-26"},"entity_type":"gene","entity_name":"POC1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 20, 615973"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.67","version_created":"2026-04-01T10:29:43.490911+11:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"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":["CDHF2"],"biotype":"protein_coding","hgnc_id":"HGNC:3036","gene_name":"desmocollin 2","omim_gene":["125645"],"alias_name":null,"gene_symbol":"DSC2","hgnc_symbol":"DSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28645940-28682378","ensembl_id":"ENSG00000134755"}},"GRch38":{"90":{"location":"18:31058840-31102415","ensembl_id":"ENSG00000134755"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"DSC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","South West GLH","NHS GMS"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 11","Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10603","gene_name":"SCO1, cytochrome c oxidase assembly protein","omim_gene":["603644"],"alias_name":null,"gene_symbol":"SCO1","hgnc_symbol":"SCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:10583654-10601692","ensembl_id":"ENSG00000133028"}},"GRch38":{"90":{"location":"17:10672474-10698375","ensembl_id":"ENSG00000133028"}}},"hgnc_date_symbol_changed":"1998-07-03"},"entity_type":"gene","entity_name":"SCO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hepatic failure, early onset, and neurologic disorder"],"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:30800","gene_name":"transmembrane inner ear","omim_gene":["607237"],"alias_name":null,"gene_symbol":"TMIE","hgnc_symbol":"TMIE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46742823-46752376","ensembl_id":"ENSG00000181585"}},"GRch38":{"90":{"location":"3:46701333-46710886","ensembl_id":"ENSG00000181585"}}},"hgnc_date_symbol_changed":"2004-05-19"},"entity_type":"gene","entity_name":"TMIE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HKE5"],"biotype":"protein_coding","hgnc_id":"HGNC:2187","gene_name":"collagen type XI alpha 2 chain","omim_gene":["120290"],"alias_name":null,"gene_symbol":"COL11A2","hgnc_symbol":"COL11A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33130458-33160276","ensembl_id":"ENSG00000204248"}},"GRch38":{"90":{"location":"6:33162681-33192499","ensembl_id":"ENSG00000204248"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"COL11A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Otospondylomegaepiphyseal dysplasia"],"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":["RTS","CBP","KAT3A"],"biotype":"protein_coding","hgnc_id":"HGNC:2348","gene_name":"CREB binding protein","omim_gene":["600140"],"alias_name":null,"gene_symbol":"CREBBP","hgnc_symbol":"CREBBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3775055-3930727","ensembl_id":"ENSG00000005339"}},"GRch38":{"90":{"location":"16:3725054-3880726","ensembl_id":"ENSG00000005339"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"CREBBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Rubinstein-Taybi 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":["TSLRP","LRTP","CILD19"],"biotype":"protein_coding","hgnc_id":"HGNC:16725","gene_name":"leucine rich repeat containing 6","omim_gene":["614930"],"alias_name":["leucine rich testes protein"],"gene_symbol":"LRRC6","hgnc_symbol":"LRRC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:133584320-133687838","ensembl_id":"ENSG00000129295"}},"GRch38":{"90":{"location":"8:132571953-132675617","ensembl_id":"ENSG00000129295"}}},"hgnc_date_symbol_changed":"2004-07-09"},"entity_type":"gene","entity_name":"LRRC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Primary ciliary dyskinesia"],"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. 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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":["FLJ25621","FLJ20147","FLJ33312","MGC45492","DKFZp779F115"],"biotype":"protein_coding","hgnc_id":"HGNC:24731","gene_name":"NHL repeat containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"NHLRC2","hgnc_symbol":"NHLRC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:115614420-115676953","ensembl_id":"ENSG00000196865"}},"GRch38":{"90":{"location":"10:113854661-113917194","ensembl_id":"ENSG00000196865"}}},"hgnc_date_symbol_changed":"2004-05-27"},"entity_type":"gene","entity_name":"NHLRC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29423877","32435055"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - 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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":["PPP1R170"],"biotype":"protein_coding","hgnc_id":"HGNC:12852","gene_name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma","omim_gene":["605356"],"alias_name":["14-3-3 gamma","protein phosphatase 1, regulatory subunit 170"],"gene_symbol":"YWHAG","hgnc_symbol":"YWHAG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75956116-75988348","ensembl_id":"ENSG00000170027"}},"GRch38":{"90":{"location":"7:76326794-76359031","ensembl_id":"ENSG00000170027"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"YWHAG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["33393734","33590706","31926053","33767733"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Developmental and epileptic encephalopathy 56, (MIMI#617665)"],"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. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9916797","10072434","10051646","10425211","10480371","10679939","9837751","23379544","31399326","25778941","17884651","22420015"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919"],"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":["Kir6.2","BIR"],"biotype":"protein_coding","hgnc_id":"HGNC:6257","gene_name":"potassium voltage-gated channel subfamily J member 11","omim_gene":["600937"],"alias_name":null,"gene_symbol":"KCNJ11","hgnc_symbol":"KCNJ11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17407406-17410878","ensembl_id":"ENSG00000187486"}},"GRch38":{"90":{"location":"11:17385859-17389331","ensembl_id":"ENSG00000187486"}}},"hgnc_date_symbol_changed":"1997-09-12"},"entity_type":"gene","entity_name":"KCNJ11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23345197","32252216","9356020"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","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":["NE-Dlg","SAP102","SAP-102","NEDLG","KIAA1232","MRX90","PPP1R82"],"biotype":"protein_coding","hgnc_id":"HGNC:2902","gene_name":"discs large MAGUK scaffold protein 3","omim_gene":["300189"],"alias_name":["neuroendocrine-dlg","protein phosphatase 1, regulatory subunit 82"],"gene_symbol":"DLG3","hgnc_symbol":"DLG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:69664711-69725337","ensembl_id":"ENSG00000082458"}},"GRch38":{"90":{"location":"X:70444861-70505490","ensembl_id":"ENSG00000082458"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"DLG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24721225","28777483"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 90 MIM#300850"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"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":["FLJ32731","HGNAT"],"biotype":"protein_coding","hgnc_id":"HGNC:26527","gene_name":"heparan-alpha-glucosaminide N-acetyltransferase","omim_gene":["610453"],"alias_name":null,"gene_symbol":"HGSNAT","hgnc_symbol":"HGSNAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42995556-43057998","ensembl_id":"ENSG00000165102"}},"GRch38":{"90":{"location":"8:43140455-43202855","ensembl_id":"ENSG00000165102"}}},"hgnc_date_symbol_changed":"2006-08-16"},"entity_type":"gene","entity_name":"HGSNAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32770643"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930","Retinitis pigmentosa 73, MIM#616544"],"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":["B1","PTHB1"],"biotype":"protein_coding","hgnc_id":"HGNC:30000","gene_name":"Bardet-Biedl syndrome 9","omim_gene":["607968"],"alias_name":["parathyroid hormone responsive B1 gene"],"gene_symbol":"BBS9","hgnc_symbol":"BBS9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:33168856-33645680","ensembl_id":"ENSG00000122507"}},"GRch38":{"90":{"location":"7:33129244-33606068","ensembl_id":"ENSG00000122507"}}},"hgnc_date_symbol_changed":"2007-01-18"},"entity_type":"gene","entity_name":"BBS9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33771153","31283077"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 9 MIM#615986"],"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":["DRM","gremlin","DAND2","HMPS"],"biotype":"protein_coding","hgnc_id":"HGNC:2001","gene_name":"gremlin 1, DAN family BMP antagonist","omim_gene":["603054"],"alias_name":null,"gene_symbol":"GREM1","hgnc_symbol":"GREM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:33010175-33026870","ensembl_id":"ENSG00000166923"}},"GRch38":{"90":{"location":"15:32717974-32745107","ensembl_id":"ENSG00000166923"}}},"hgnc_date_symbol_changed":"2004-05-07"},"entity_type":"gene","entity_name":"GREM1","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":["PMID: 22561515, 25419707"],"evidence":["Expert Review Green","Literature","Expert Review","Expert list"],"phenotypes":["Colorectal cancer, MONDO:0005575","Polyposis, MONDO:0000147","Hereditary mixed polyposis syndrome, MONDO:0011023","GREM1-associated polyposis, no MIM#"],"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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN1_SCA1_CAG","confidence_level":"3","penetrance":null,"publications":["8358429","29325606","20301363"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 1 MIM#164400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"6","grch37_coordinates":[16327918,16327953],"grch38_coordinates":[16327687,16327722],"normal_repeats":35,"pathogenic_repeats":39,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}},{"gene_data":{"alias":["E46L","FLJ37990"],"biotype":"protein_coding","hgnc_id":"HGNC:10549","gene_name":"ataxin 10","omim_gene":["611150"],"alias_name":null,"gene_symbol":"ATXN10","hgnc_symbol":"ATXN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:46067678-46241187","ensembl_id":"ENSG00000130638"}},"GRch38":{"90":{"location":"22:45671798-45845307","ensembl_id":"ENSG00000130638"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"str","entity_name":"ATXN10_SCA10_ATTCT","confidence_level":"3","penetrance":null,"publications":["20301354","11017075"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 10 MIM#603516"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"ATTCT","chromosome":"22","grch37_coordinates":[46191235,46191304],"grch38_coordinates":[45795355,45795424],"normal_repeats":32,"pathogenic_repeats":800,"tags":["adult-onset"],"panel":{"id":3597,"hash_id":null,"name":"Repeat Disorders","disease_group":"","disease_sub_group":"","description":"This panel contains reported short tandem repeat (STR) expansion disorders. The naming convention of the STRs is based on the name of the condition or fragile site that the expansion is associated with. \r\nThe panel was developed by RMH and WEHI, and is maintained by RMH.\r\n\r\nThis panel is used as a research panel by the Australian Genomics Acute Care study.","status":"public","version":"0.272","version_created":"2026-01-02T15:16:39.779953+11:00","relevant_disorders":[],"stats":{"number_of_genes":0,"number_of_strs":76,"number_of_regions":0},"types":[{"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"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}