{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=33","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=31","results":[{"gene_data":{"alias":["LGMD2K"],"biotype":"protein_coding","hgnc_id":"HGNC:9202","gene_name":"protein O-mannosyltransferase 1","omim_gene":["607423"],"alias_name":["dolichyl-phosphate-mannose-protein mannosyltransferase"],"gene_symbol":"POMT1","hgnc_symbol":"POMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:134378289-134399193","ensembl_id":"ENSG00000130714"}},"GRch38":{"90":{"location":"9:131502902-131523806","ensembl_id":"ENSG00000130714"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"POMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":6,"hash_id":null,"name":"Cobblestone Malformations","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\nCobblestone lissencephaly is characterised by a nodular brain surface, ocular anomalies, and congenital muscular disorders. Cobblestone cortex results from overmigration of the neuroblasts and glial cells beyond the external glial limitations into the subarachnoid space.\r\n\r\nPlease also consider the Lissencephaly and Band Heterotopia panel and the broader Malformations of cortical development superpanel if features are not entirely typical.","status":"public","version":"1.1","version_created":"2022-10-07T18:15:15.150864+11:00","relevant_disorders":["Abnormal cortical gyration HP:0002536"],"stats":{"number_of_genes":13,"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":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TUBA3","B-ALPHA-1","FLJ25113"],"biotype":"protein_coding","hgnc_id":"HGNC:20766","gene_name":"tubulin alpha 1a","omim_gene":["602529"],"alias_name":["tubulin, alpha, brain-specific"],"gene_symbol":"TUBA1A","hgnc_symbol":"TUBA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49578579-49583107","ensembl_id":"ENSG00000167552"}},"GRch38":{"90":{"location":"12:49184796-49189324","ensembl_id":"ENSG00000167552"}}},"hgnc_date_symbol_changed":"2007-01-30"},"entity_type":"gene","entity_name":"TUBA1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","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":["TDP-43","ALS10"],"biotype":"protein_coding","hgnc_id":"HGNC:11571","gene_name":"TAR DNA binding protein","omim_gene":["605078"],"alias_name":null,"gene_symbol":"TARDBP","hgnc_symbol":"TARDBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11072414-11085796","ensembl_id":"ENSG00000120948"}},"GRch38":{"90":{"location":"1:11012344-11026420","ensembl_id":"ENSG00000120948"}}},"hgnc_date_symbol_changed":"2000-01-28"},"entity_type":"gene","entity_name":"TARDBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301761","18309045","19609911"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 10, with or without FTD","Frontotemporal lobar degeneration, TARDBP-related (MIM#612069","MONDO: 0012790)"],"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:6716","gene_name":"latent transforming growth factor beta binding protein 3","omim_gene":["602090"],"alias_name":null,"gene_symbol":"LTBP3","hgnc_symbol":"LTBP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65306276-65326401","ensembl_id":"ENSG00000168056"}},"GRch38":{"90":{"location":"11:65538805-65558930","ensembl_id":"ENSG00000168056"}}},"hgnc_date_symbol_changed":"1995-05-11"},"entity_type":"gene","entity_name":"LTBP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27068007"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Geleophysic dysplasia 3\t- MIM#617809"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"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":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Expert Review Green","Melbourne Genomics Health Alliance Perinatal Autopsy Flagship"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"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":["FLJ23356","SgK196"],"biotype":"protein_coding","hgnc_id":"HGNC:26267","gene_name":"protein-O-mannose kinase","omim_gene":["615247"],"alias_name":null,"gene_symbol":"POMK","hgnc_symbol":"POMK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42948658-42978577","ensembl_id":"ENSG00000185900"}},"GRch38":{"90":{"location":"8:43093506-43123434","ensembl_id":"ENSG00000185900"}}},"hgnc_date_symbol_changed":"2013-08-22"},"entity_type":"gene","entity_name":"POMK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). Primary genetic aetiologies include neuropathic processes; myopathic processes; end-plate abnormalities; and syndromic/metabolic disorders that affect the movement of the developing embryo/fetus.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Arthrogryposis' panel with all discrepancies resolved, and reciprocal feedback provided to Genomics England, 1/8/2020.\r\n\r\nUpdated following literature review 25/11/2025.","status":"public","version":"1.19","version_created":"2026-04-02T19:32:17.814766+11:00","relevant_disorders":["Flexion contracture","HP:0001371"],"stats":{"number_of_genes":241,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Eu-HMTase1","FLJ12879","KIAA1876","bA188C12.1","KMT1D","FLJ40292"],"biotype":"protein_coding","hgnc_id":"HGNC:24650","gene_name":"euchromatic histone lysine methyltransferase 1","omim_gene":["607001"],"alias_name":null,"gene_symbol":"EHMT1","hgnc_symbol":"EHMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140513444-140764468","ensembl_id":"ENSG00000181090"}},"GRch38":{"90":{"location":"9:137618963-137870016","ensembl_id":"ENSG00000181090"}}},"hgnc_date_symbol_changed":"2004-06-01"},"entity_type":"gene","entity_name":"EHMT1","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":51,"hash_id":null,"name":"Autism","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.248","version_created":"2026-03-19T12:51:18.584438+11:00","relevant_disorders":["Autism","HP:0000717"],"stats":{"number_of_genes":157,"number_of_strs":0,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BK"],"biotype":"protein_coding","hgnc_id":"HGNC:6383","gene_name":"kininogen 1","omim_gene":["612358"],"alias_name":["alpha-2-thiol proteinase inhibitor","bradykinin"],"gene_symbol":"KNG1","hgnc_symbol":"KNG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186435065-186461743","ensembl_id":"ENSG00000113889"}},"GRch38":{"90":{"location":"3:186717276-186743954","ensembl_id":"ENSG00000113889"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"KNG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36700498"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["congenital high-molecular-weight kininogen deficiency, MONDO:0009234"],"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":null},{"gene_data":{"alias":["FLJ20392"],"biotype":"protein_coding","hgnc_id":"HGNC:20185","gene_name":"transmembrane protein 260","omim_gene":["617449"],"alias_name":null,"gene_symbol":"TMEM260","hgnc_symbol":"TMEM260","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:56955072-57117324","ensembl_id":"ENSG00000070269"}},"GRch38":{"90":{"location":"14:56488354-56650606","ensembl_id":"ENSG00000070269"}}},"hgnc_date_symbol_changed":"2013-03-08"},"entity_type":"gene","entity_name":"TMEM260","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28318500","34612517"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Structural heart defects and renal anomalies syndrome, MIM# 617478"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.204","version_created":"2026-03-19T13:24:30.325727+11:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DESP4","ERG25"],"biotype":"protein_coding","hgnc_id":"HGNC:10545","gene_name":"methylsterol monooxygenase 1","omim_gene":["607545"],"alias_name":null,"gene_symbol":"MSMO1","hgnc_symbol":"MSMO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:166248775-166264312","ensembl_id":"ENSG00000052802"}},"GRch38":{"90":{"location":"4:165327623-165343160","ensembl_id":"ENSG00000052802"}}},"hgnc_date_symbol_changed":"2011-09-01"},"entity_type":"gene","entity_name":"MSMO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21285510","24144731","28673550"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834","MONDO:0014793"],"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":[]},{"gene_data":{"alias":["IKBR"],"biotype":"protein_coding","hgnc_id":"HGNC:7801","gene_name":"tonsoku like, DNA repair protein","omim_gene":["604546"],"alias_name":null,"gene_symbol":"TONSL","hgnc_symbol":"TONSL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145654165-145669827","ensembl_id":"ENSG00000160949"}},"GRch38":{"90":{"location":"8:144428775-144444444","ensembl_id":"ENSG00000160949"}}},"hgnc_date_symbol_changed":"2010-11-30"},"entity_type":"gene","entity_name":"TONSL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30773277"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#\t271510"],"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":[]},{"gene_data":{"alias":["TBX3-ISO","XHL"],"biotype":"protein_coding","hgnc_id":"HGNC:11602","gene_name":"T-box 3","omim_gene":["601621"],"alias_name":null,"gene_symbol":"TBX3","hgnc_symbol":"TBX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:115108059-115121969","ensembl_id":"ENSG00000135111"}},"GRch38":{"90":{"location":"12:114670254-114684164","ensembl_id":"ENSG00000135111"}}},"hgnc_date_symbol_changed":"1997-06-18"},"entity_type":"gene","entity_name":"TBX3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Ulnar-mammary syndrome, MIM#\t181450"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HSPB5"],"biotype":"protein_coding","hgnc_id":"HGNC:2389","gene_name":"crystallin alpha B","omim_gene":["123590"],"alias_name":null,"gene_symbol":"CRYAB","hgnc_symbol":"CRYAB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111779289-111794446","ensembl_id":"ENSG00000109846"}},"GRch38":{"90":{"location":"11:111908565-111923722","ensembl_id":"ENSG00000109846"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"CRYAB","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16793013","16483541","23590293","29253866"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1II, MIM#615184"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":95,"hash_id":null,"name":"Dilated Cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes typically associated with isolated dilated cardiomyopathy, with onset in adolescence or adulthood. For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"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":["S28"],"biotype":"protein_coding","hgnc_id":"HGNC:10418","gene_name":"ribosomal protein S28","omim_gene":["603685"],"alias_name":["40S ribosomal protein S28"],"gene_symbol":"RPS28","hgnc_symbol":"RPS28","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:8386042-8388224","ensembl_id":"ENSG00000233927"}},"GRch38":{"90":{"location":"19:8321158-8323340","ensembl_id":"ENSG00000233927"}}},"hgnc_date_symbol_changed":"1993-12-07"},"entity_type":"gene","entity_name":"RPS28","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24942156","40135709"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":"Other","publications":["PMID: 28373276"],"evidence":["Expert Review","Expert Review Green","Expert Review"],"phenotypes":["Polycystic Kidney Disease","Hyperinsulinemic Hypoglycemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["5'UTR"],"panel":{"id":118,"hash_id":null,"name":"Hyperinsulinism","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed by and is maintained by VCGS and RMH.\r\n\r\nThis panel contains genes associated with hyperinsulinism (non-syndromic and syndromic). \r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital hyperinsulinism' panel V3.5, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nFor severe, persistent hypoglycaemia, consider also applying the Metabolic Disorders Superpanel, or more specifically, the Glycogen Storage Diseases and Fatty Acid Oxidation Defects panels.\r\n\r\nIf features of the following diagnoses, request alternate genetic test listed:\r\na) Beckwith-Wiedeman syndrome - request BWS methylation studies\r\nb) Congenital central hypoventilation syndrome - request PHOX2B poly-A expansion repeat testing","status":"public","version":"1.51","version_created":"2026-03-09T16:58:00.909830+11:00","relevant_disorders":["Hyperinsulinaemia","HP:0000842;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSA"],"biotype":"protein_coding","hgnc_id":"HGNC:3439","gene_name":"ERCC excision repair 8, CSA ubiquitin ligase complex subunit","omim_gene":["609412"],"alias_name":null,"gene_symbol":"ERCC8","hgnc_symbol":"ERCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:60169658-60240900","ensembl_id":"ENSG00000049167"}},"GRch38":{"90":{"location":"5:60873831-60945073","ensembl_id":"ENSG00000049167"}}},"hgnc_date_symbol_changed":"1995-02-07"},"entity_type":"gene","entity_name":"ERCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cockayne syndrome, type B, MIM# 133540"],"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":["CED","TGFbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:11766","gene_name":"transforming growth factor beta 1","omim_gene":["190180"],"alias_name":["Camurati-Engelmann disease","prepro-transforming growth factor beta-1"],"gene_symbol":"TGFB1","hgnc_symbol":"TGFB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41807492-41859816","ensembl_id":"ENSG00000105329"}},"GRch38":{"90":{"location":"19:41301587-41353911","ensembl_id":"ENSG00000105329"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TGFB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAMP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:12642","gene_name":"vesicle associated membrane protein 1","omim_gene":["185880"],"alias_name":null,"gene_symbol":"VAMP1","hgnc_symbol":"VAMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6571403-6580153","ensembl_id":"ENSG00000139190"}},"GRch38":{"90":{"location":"12:6462237-6470987","ensembl_id":"ENSG00000139190"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"VAMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28168212","28253535","28600779","17102983","22958904"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 25, MIM# 618323","Spastic ataxia 1, autosomal dominant, MIM# 108600"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["founder"],"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":["VRP"],"biotype":"protein_coding","hgnc_id":"HGNC:12682","gene_name":"vascular endothelial growth factor C","omim_gene":["601528"],"alias_name":["vascular endothelial growth factor-related protein"],"gene_symbol":"VEGFC","hgnc_symbol":"VEGFC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:177604689-177713881","ensembl_id":"ENSG00000150630"}},"GRch38":{"90":{"location":"4:176683538-176792727","ensembl_id":"ENSG00000150630"}}},"hgnc_date_symbol_changed":"1996-10-26"},"entity_type":"gene","entity_name":"VEGFC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23410910","24744435","30071673"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Lymphatic malformation 4, MIM#615907"],"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":["ATG21","CGI-50","FLJ12979","FLJ14217","FLJ42984","DKFZP434J154","DKFZp686P02188","ATG18B"],"biotype":"protein_coding","hgnc_id":"HGNC:32225","gene_name":"WD repeat domain, phosphoinositide interacting 2","omim_gene":["609225"],"alias_name":null,"gene_symbol":"WIPI2","hgnc_symbol":"WIPI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:5229819-5273457","ensembl_id":"ENSG00000157954"}},"GRch38":{"90":{"location":"7:5190188-5233826","ensembl_id":"ENSG00000157954"}}},"hgnc_date_symbol_changed":"2005-11-15"},"entity_type":"gene","entity_name":"WIPI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30968111","34557665"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder with short stature and variable skeletal anomalies\t618453"],"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":["DMC1","HID-1"],"biotype":"protein_coding","hgnc_id":"HGNC:15736","gene_name":"HID1 domain containing","omim_gene":["605752"],"alias_name":["downregulated in multiple cancer 1"],"gene_symbol":"HID1","hgnc_symbol":"HID1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72946838-72969261","ensembl_id":"ENSG00000167861"}},"GRch38":{"90":{"location":"17:74950743-74973166","ensembl_id":"ENSG00000167861"}}},"hgnc_date_symbol_changed":"2012-10-10"},"entity_type":"gene","entity_name":"HID1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33999436"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 105 with hypopituitarism\tMIM#619983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["a1","Vph1","Stv1"],"biotype":"protein_coding","hgnc_id":"HGNC:865","gene_name":"ATPase H+ transporting V0 subunit a1","omim_gene":["192130"],"alias_name":null,"gene_symbol":"ATP6V0A1","hgnc_symbol":"ATP6V0A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40610862-40674629","ensembl_id":"ENSG00000033627"}},"GRch38":{"90":{"location":"17:42458844-42522611","ensembl_id":"ENSG00000033627"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V0A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30842224","33057194","34909687"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 104 MIM#619970","Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971"],"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. 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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":["DHPase"],"biotype":"protein_coding","hgnc_id":"HGNC:3013","gene_name":"dihydropyrimidinase","omim_gene":["613326"],"alias_name":null,"gene_symbol":"DPYS","hgnc_symbol":"DPYS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:105342552-105479281","ensembl_id":"ENSG00000147647"}},"GRch38":{"90":{"location":"8:104330324-104467053","ensembl_id":"ENSG00000147647"}}},"hgnc_date_symbol_changed":"1997-02-27"},"entity_type":"gene","entity_name":"DPYS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9718352","38199782"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dihydropyrimidinuria, MIM#222748"],"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":["SLAC2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:30578","gene_name":"exophilin 5","omim_gene":["612878"],"alias_name":["synaptotagmin-like homologue lacking C2 domains b"],"gene_symbol":"EXPH5","hgnc_symbol":"EXPH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:108376158-108464465","ensembl_id":"ENSG00000110723"}},"GRch38":{"90":{"location":"11:108505431-108593738","ensembl_id":"ENSG00000110723"}}},"hgnc_date_symbol_changed":"2005-10-04"},"entity_type":"gene","entity_name":"EXPH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23176819","32176379","27730671","27384765"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermolysis bullosa, nonspecific, autosomal recessive, MIM# 615028"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":["HBGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:3681","gene_name":"fibroblast growth factor 3","omim_gene":["164950"],"alias_name":["INT-2 proto-oncogene protein","oncogene INT2","V-INT2 murine mammary tumor virus integration site oncogene homolog","murine mammary tumor virus integration site 2, mouse"],"gene_symbol":"FGF3","hgnc_symbol":"FGF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:69624992-69633792","ensembl_id":"ENSG00000186895"}},"GRch38":{"90":{"location":"11:69810224-69819024","ensembl_id":"ENSG00000186895"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"FGF3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21480479","21306635","18435799","17236138","21306635","18701883","8223243","26995070","29902227","30504125"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ14917"],"biotype":"protein_coding","hgnc_id":"HGNC:21061","gene_name":"serine active site containing 1","omim_gene":["614725"],"alias_name":null,"gene_symbol":"SERAC1","hgnc_symbol":"SERAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158530536-158589312","ensembl_id":"ENSG00000122335"}},"GRch38":{"90":{"location":"6:158109515-158168270","ensembl_id":"ENSG00000122335"}}},"hgnc_date_symbol_changed":"2003-05-12"},"entity_type":"gene","entity_name":"SERAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM#\t614739"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FKHL20"],"biotype":"protein_coding","hgnc_id":"HGNC:12765","gene_name":"forkhead box N1","omim_gene":["600838"],"alias_name":null,"gene_symbol":"FOXN1","hgnc_symbol":"FOXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26833261-26865914","ensembl_id":"ENSG00000109101"}},"GRch38":{"90":{"location":"17:28506243-28538896","ensembl_id":"ENSG00000109101"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"FOXN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31447097","18339010","10206641"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705","T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AD158"],"biotype":"protein_coding","hgnc_id":"HGNC:25075","gene_name":"leucine rich repeat containing 8 VRAC subunit C","omim_gene":["612889"],"alias_name":["hypothetical protein AD158"],"gene_symbol":"LRRC8C","hgnc_symbol":"LRRC8C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:90098631-90235462","ensembl_id":"ENSG00000171488"}},"GRch38":{"90":{"location":"1:89633072-89769903","ensembl_id":"ENSG00000171488"}}},"hgnc_date_symbol_changed":"2005-06-29"},"entity_type":"gene","entity_name":"LRRC8C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["39623139"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["TIMES syndrome MIM#621056"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"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":["FLJ11090","SCAN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18884","gene_name":"tyrosyl-DNA phosphodiesterase 1","omim_gene":["607198"],"alias_name":null,"gene_symbol":"TDP1","hgnc_symbol":"TDP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:90421283-90511106","ensembl_id":"ENSG00000042088"}},"GRch38":{"90":{"location":"14:89954939-90044768","ensembl_id":"ENSG00000042088"}}},"hgnc_date_symbol_changed":"2002-07-13"},"entity_type":"gene","entity_name":"TDP1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["31182267","12244316","39576382"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["JBTS14"],"biotype":"protein_coding","hgnc_id":"HGNC:14432","gene_name":"transmembrane protein 237","omim_gene":["614423"],"alias_name":null,"gene_symbol":"TMEM237","hgnc_symbol":"TMEM237","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202484907-202508293","ensembl_id":"ENSG00000155755"}},"GRch38":{"90":{"location":"2:201620184-201643570","ensembl_id":"ENSG00000155755"}}},"hgnc_date_symbol_changed":"2011-05-20"},"entity_type":"gene","entity_name":"TMEM237","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","RetNet","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hPAK3","bPAK"],"biotype":"protein_coding","hgnc_id":"HGNC:8592","gene_name":"p21 (RAC1) activated kinase 3","omim_gene":["300142"],"alias_name":null,"gene_symbol":"PAK3","hgnc_symbol":"PAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110187513-110470589","ensembl_id":"ENSG00000077264"}},"GRch38":{"90":{"location":"X:110944285-111227361","ensembl_id":"ENSG00000077264"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"PAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked 30/47, 300558 (3)"],"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":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cerebrotendinous xanthomatosis, 213700 (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":["DKFZP727C091","MSL1v1","CENP-36","NSL1"],"biotype":"protein_coding","hgnc_id":"HGNC:24565","gene_name":"KAT8 regulatory NSL complex subunit 1","omim_gene":["612452"],"alias_name":["centromere protein 36"],"gene_symbol":"KANSL1","hgnc_symbol":"KANSL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:44107282-44302733","ensembl_id":"ENSG00000120071"}},"GRch38":{"90":{"location":"17:46029916-46225389","ensembl_id":"ENSG00000120071"}}},"hgnc_date_symbol_changed":"2012-02-20"},"entity_type":"gene","entity_name":"KANSL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Koolen-De Vries 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":["MG61","PORC","PPN","por"],"biotype":"protein_coding","hgnc_id":"HGNC:17652","gene_name":"porcupine O-acyltransferase","omim_gene":["300651"],"alias_name":null,"gene_symbol":"PORCN","hgnc_symbol":"PORCN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48367350-48379202","ensembl_id":"ENSG00000102312"}},"GRch38":{"90":{"location":"X:48508962-48520814","ensembl_id":"ENSG00000102312"}}},"hgnc_date_symbol_changed":"2004-05-12"},"entity_type":"gene","entity_name":"PORCN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Focal dermal hypoplasia"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Telangiectasia, hereditary hemorrhagic, type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCS"],"biotype":"protein_coding","hgnc_id":"HGNC:4311","gene_name":"glutamate-cysteine ligase catalytic subunit","omim_gene":["606857"],"alias_name":null,"gene_symbol":"GCLC","hgnc_symbol":"GCLC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:53362139-53481768","ensembl_id":"ENSG00000001084"}},"GRch38":{"90":{"location":"6:53497341-53616970","ensembl_id":"ENSG00000001084"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"GCLC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10515893","28571779"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Haemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, MIM# 230450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22031","FLJ14927","KIAA1500"],"biotype":"protein_coding","hgnc_id":"HGNC:19185","gene_name":"Fraser extracellular matrix complex subunit 1","omim_gene":["607830"],"alias_name":null,"gene_symbol":"FRAS1","hgnc_symbol":"FRAS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:78978724-79465423","ensembl_id":"ENSG00000138759"}},"GRch38":{"90":{"location":"4:78057570-78544269","ensembl_id":"ENSG00000138759"}}},"hgnc_date_symbol_changed":"2003-02-25"},"entity_type":"gene","entity_name":"FRAS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17163535","16894541","18203166","18671281"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Fraser syndrome, 219000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Lipodystrophy, congenital generalized, type 4 , MIM# 613327"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX50"],"biotype":"protein_coding","hgnc_id":"HGNC:4281","gene_name":"gap junction protein alpha 8","omim_gene":["600897"],"alias_name":["connexin 50"],"gene_symbol":"GJA8","hgnc_symbol":"GJA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147374946-147381393","ensembl_id":"ENSG00000121634"}},"GRch38":{"90":{"location":"1:147907956-147909257","ensembl_id":"ENSG00000121634"}}},"hgnc_date_symbol_changed":"1995-11-29"},"entity_type":"gene","entity_name":"GJA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30498267","29464339"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 1, multiple types, MIM# 116200","Microphthalmia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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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":["CD49c","VLA3a","VCA-2","GAP-B3"],"biotype":"protein_coding","hgnc_id":"HGNC:6139","gene_name":"integrin subunit alpha 3","omim_gene":["605025"],"alias_name":["alpha 3 subunit of VLA-3 receptor","antigen CD49C"],"gene_symbol":"ITGA3","hgnc_symbol":"ITGA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:48133332-48167845","ensembl_id":"ENSG00000005884"}},"GRch38":{"90":{"location":"17:50055968-50090481","ensembl_id":"ENSG00000005884"}}},"hgnc_date_symbol_changed":"1992-02-27"},"entity_type":"gene","entity_name":"ITGA3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GH-N","GHN","GH","hGH-N"],"biotype":"protein_coding","hgnc_id":"HGNC:4261","gene_name":"growth hormone 1","omim_gene":["139250"],"alias_name":["pituitary growth hormone","somatotropin"],"gene_symbol":"GH1","hgnc_symbol":"GH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61994560-61996179","ensembl_id":"ENSG00000259384"}},"GRch38":{"90":{"location":"17:63917200-63918838","ensembl_id":"ENSG00000259384"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Growth hormone deficiency, isolated, type IA, MIM# 262400","Growth hormone deficiency, isolated, type II, MIM# 173100","Kowarski syndrome, MIM# 262650"],"mode_of_inheritance":"BOTH monoallelic and 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":[]},{"gene_data":{"alias":["cavin-1","CGL4"],"biotype":"protein_coding","hgnc_id":"HGNC:9688","gene_name":"caveolae associated protein 1","omim_gene":["603198"],"alias_name":["congenital generalized lipodystrophy 4"],"gene_symbol":"CAVIN1","hgnc_symbol":"CAVIN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40554470-40575535","ensembl_id":"ENSG00000177469"}},"GRch38":{"90":{"location":"17:42402452-42423517","ensembl_id":"ENSG00000177469"}}},"hgnc_date_symbol_changed":"2017-03-24"},"entity_type":"gene","entity_name":"CAVIN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19726876","20300641","20684003","18840361"],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Lipodystrophy, congenital generalized, type 4, MIM# 613327"],"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":["RPS17L1","RPS17L2","MGC72007","S17"],"biotype":"protein_coding","hgnc_id":"HGNC:10397","gene_name":"ribosomal protein S17","omim_gene":["180472"],"alias_name":null,"gene_symbol":"RPS17","hgnc_symbol":"RPS17","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:83205504-83209315","ensembl_id":"ENSG00000182774"}},"GRch38":{"90":{"location":"15:82536753-82540564","ensembl_id":"ENSG00000182774"}}},"hgnc_date_symbol_changed":"1991-11-29"},"entity_type":"gene","entity_name":"RPS17","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Diamond-Blackfan anaemia, MIM#612527"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable","haematological"],"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":["GBA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4177","gene_name":"glucosylceramidase beta","omim_gene":["606463"],"alias_name":null,"gene_symbol":"GBA","hgnc_symbol":"GBA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155204243-155214490","ensembl_id":"ENSG00000177628"}},"GRch38":{"90":{"location":"1:155234452-155244699","ensembl_id":"ENSG00000177628"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GBA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Gaucher disease type 1, MIM#230800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic","technically challenging"],"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":["KIAA0328"],"biotype":"protein_coding","hgnc_id":"HGNC:428","gene_name":"ALMS1, centrosome and basal body associated protein","omim_gene":["606844"],"alias_name":null,"gene_symbol":"ALMS1","hgnc_symbol":"ALMS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:73612886-73837920","ensembl_id":"ENSG00000116127"}},"GRch38":{"90":{"location":"2:73385758-73610793","ensembl_id":"ENSG00000116127"}}},"hgnc_date_symbol_changed":"1998-10-12"},"entity_type":"gene","entity_name":"ALMS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Alstrom syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THTR1"],"biotype":"protein_coding","hgnc_id":"HGNC:10938","gene_name":"solute carrier family 19 member 2","omim_gene":["603941"],"alias_name":null,"gene_symbol":"SLC19A2","hgnc_symbol":"SLC19A2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:169433147-169455241","ensembl_id":"ENSG00000117479"}},"GRch38":{"90":{"location":"1:169463909-169486003","ensembl_id":"ENSG00000117479"}}},"hgnc_date_symbol_changed":"1999-04-09"},"entity_type":"gene","entity_name":"SLC19A2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10391221","19643445"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Thiamine-responsive megaloblastic anemia syndrome, MIM#249270"],"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":["Dnahc9","KIAA0357","HL20","HL-20","DNAL1","DYH9"],"biotype":"protein_coding","hgnc_id":"HGNC:2953","gene_name":"dynein axonemal heavy chain 9","omim_gene":["603330"],"alias_name":null,"gene_symbol":"DNAH9","hgnc_symbol":"DNAH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:11501748-11873065","ensembl_id":"ENSG00000007174"}},"GRch38":{"90":{"location":"17:11598431-11969748","ensembl_id":"ENSG00000007174"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30471717","30471718","33610189","39523437","38884051"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 40, MIM# 618300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ST7","FLJ12929"],"biotype":"protein_coding","hgnc_id":"HGNC:31708","gene_name":"LDL receptor related protein 12","omim_gene":null,"alias_name":null,"gene_symbol":"LRP12","hgnc_symbol":"LRP12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:105501459-105601252","ensembl_id":"ENSG00000147650"}},"GRch38":{"90":{"location":"8:104489231-104589024","ensembl_id":"ENSG00000147650"}}},"hgnc_date_symbol_changed":"2004-07-06"},"entity_type":"str","entity_name":"LRP12_OPDM1_CGG","confidence_level":"3","penetrance":null,"publications":["31332380","34047774","37339631"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oculopharyngodistal myopathy 1 MIM#164310","Amyotrophic lateral sclerosis MONDO:0004976"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CGG","chromosome":"8","grch37_coordinates":[105601201,105601227],"grch38_coordinates":[104588973,104588999],"normal_repeats":45,"pathogenic_repeats":85,"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":[]}}]}