{"count":36081,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=159","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=157","results":[{"gene_data":{"alias":["CGTHBA","RMD11","NPR3","MARE","HS-40"],"biotype":"protein_coding","hgnc_id":"HGNC:14124","gene_name":"NPR3 like, GATOR1 complex subunit","omim_gene":["600928"],"alias_name":["conserved gene telomeric to alpha globin cluster"],"gene_symbol":"NPRL3","hgnc_symbol":"NPRL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:134273-188859","ensembl_id":"ENSG00000103148"}},"GRch38":{"90":{"location":"16:84271-138860","ensembl_id":"ENSG00000103148"}}},"hgnc_date_symbol_changed":"2010-03-30"},"entity_type":"gene","entity_name":"NPRL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27173016","26285051"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Brain Malformations Flagship"],"phenotypes":["Epilepsy, familial focal, with variable foci 3 (MIM#617118)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":20,"hash_id":null,"name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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compared against the Genomics England PanelApp 'Anophthalmia or Microphthalmia' v1.31 and 'Ocular coloboma' v1.38 panels, with discrepancies reviewed and reciprocal feedback provided to Genomics England.","status":"public","version":"1.57","version_created":"2026-03-03T11:23:37.804849+11:00","relevant_disorders":["Anophthalmia","HP:0000528;Microphthalmia","HP:0000568;Coloboma","HP:0000589"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XPB","BTF2","RAD25","TFIIH","GTF2H"],"biotype":"protein_coding","hgnc_id":"HGNC:3435","gene_name":"ERCC excision repair 3, TFIIH core complex helicase subunit","omim_gene":["133510"],"alias_name":["xeroderma pigmentosum group B 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It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:29843","gene_name":"NMDA receptor synaptonuclear signaling and neuronal migration factor","omim_gene":["608137"],"alias_name":null,"gene_symbol":"NSMF","hgnc_symbol":"NSMF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:140342022-140353786","ensembl_id":"ENSG00000165802"}},"GRch38":{"90":{"location":"9:137447573-137459334","ensembl_id":"ENSG00000165802"}}},"hgnc_date_symbol_changed":"2013-01-14"},"entity_type":"gene","entity_name":"NSMF","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["15362570","17235395","21700882","31220265","34348883","35316923","39010903","39809967"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Hypogonadotropic hypogonadism 9 with or without anosmia, MIM#\t614838"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.54","version_created":"2026-04-27T12:46:58.149374+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["OCTN2","SCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10969","gene_name":"solute carrier family 22 member 5","omim_gene":["603377"],"alias_name":null,"gene_symbol":"SLC22A5","hgnc_symbol":"SLC22A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:131705444-131731306","ensembl_id":"ENSG00000197375"}},"GRch38":{"90":{"location":"5:132369752-132395614","ensembl_id":"ENSG00000197375"}}},"hgnc_date_symbol_changed":"1998-07-16"},"entity_type":"gene","entity_name":"SLC22A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Carnitine deficiency, systemic primary, MIM# 212140"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":103,"hash_id":null,"name":"Fatty Acid Oxidation Defects","disease_group":"Metabolic disorders","disease_sub_group":"","description":"Fatty acid oxidation disorders (FAODs) are inborn errors of metabolism caused by disruption of either mitochondrial β-oxidation or the fatty acid transport using the carnitine transport pathway. 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GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TIRC7","OC-116","OC116","ATP6N1C","Atp6i","a3","ATP6V0A3"],"biotype":"protein_coding","hgnc_id":"HGNC:11647","gene_name":"T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3","omim_gene":["604592"],"alias_name":["T-cell immune response cDNA 7"],"gene_symbol":"TCIRG1","hgnc_symbol":"TCIRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67806483-67818362","ensembl_id":"ENSG00000110719"}},"GRch38":{"90":{"location":"11:68039016-68050895","ensembl_id":"ENSG00000110719"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"TCIRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, autosomal recessive 1, MIM# 259700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.5","LQT3","HB1","HBBD","PFHB1","IVF","HB2","HH1","SSS1","CDCD2","CMPD2","ICCD"],"biotype":"protein_coding","hgnc_id":"HGNC:10593","gene_name":"sodium voltage-gated channel alpha subunit 5","omim_gene":["600163"],"alias_name":["long QT syndrome 3"],"gene_symbol":"SCN5A","hgnc_symbol":"SCN5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38589548-38691164","ensembl_id":"ENSG00000183873"}},"GRch38":{"90":{"location":"3:38548057-38649673","ensembl_id":"ENSG00000183873"}}},"hgnc_date_symbol_changed":"1992-04-10"},"entity_type":"gene","entity_name":"SCN5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22064211","15184283","19419784"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Long QT syndrome 3 (MIM#603830)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. 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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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"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":["FLJ32312"],"biotype":"protein_coding","hgnc_id":"HGNC:26505","gene_name":"pseudouridylate synthase 10","omim_gene":["612787"],"alias_name":null,"gene_symbol":"PUS10","hgnc_symbol":"PUS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:61167357-61245394","ensembl_id":"ENSG00000162927"}},"GRch38":{"90":{"location":"2:60940222-61018259","ensembl_id":"ENSG00000162927"}}},"hgnc_date_symbol_changed":"2008-01-09"},"entity_type":"gene","entity_name":"PUS10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"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":["EXLM1","CRSP150","TRAP170","RGR1","CSRP"],"biotype":"protein_coding","hgnc_id":"HGNC:2370","gene_name":"mediator complex subunit 14","omim_gene":["300182"],"alias_name":null,"gene_symbol":"MED14","hgnc_symbol":"MED14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:40507558-40595110","ensembl_id":"ENSG00000180182"}},"GRch38":{"90":{"location":"X:40648306-40735858","ensembl_id":"ENSG00000180182"}}},"hgnc_date_symbol_changed":"2007-07-30"},"entity_type":"gene","entity_name":"MED14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 40597352"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), MED14-related"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"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":["CaT2"],"biotype":"protein_coding","hgnc_id":"HGNC:3145","gene_name":"transient receptor potential cation channel subfamily V member 5","omim_gene":["606679"],"alias_name":null,"gene_symbol":"TRPV5","hgnc_symbol":"TRPV5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142605267-142630905","ensembl_id":"ENSG00000127412"}},"GRch38":{"90":{"location":"7:142908101-142933808","ensembl_id":"ENSG00000127412"}}},"hgnc_date_symbol_changed":"2002-02-01"},"entity_type":"gene","entity_name":"TRPV5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["38528055","14679186"],"evidence":["Expert Review Red","Other"],"phenotypes":["TRPV5-related hypercalciuria (MONDO:0009550)"],"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":"1.4800","version_created":"2026-04-27T12:09:58.024591+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":9},"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":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["35921593","27463701"],"evidence":["Expert Review Green","Literature"],"phenotypes":["myoclonus, intractable, neonatal MONDO:0014979","Leber hereditary optic neuropathy MONDO:0010788"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":149,"hash_id":null,"name":"Optic Atrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH and contains genes associated with isolated and complex optic atrophy.","status":"public","version":"1.72","version_created":"2026-03-31T18:57:17.873049+11:00","relevant_disorders":["Optic atrophy","HP:0000648"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MPPB","MPPP52"],"biotype":"protein_coding","hgnc_id":"HGNC:9119","gene_name":"peptidase, mitochondrial processing beta subunit","omim_gene":["603131"],"alias_name":null,"gene_symbol":"PMPCB","hgnc_symbol":"PMPCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:102937869-102969958","ensembl_id":"ENSG00000105819"}},"GRch38":{"90":{"location":"7:103297422-103329511","ensembl_id":"ENSG00000105819"}}},"hgnc_date_symbol_changed":"1999-07-22"},"entity_type":"gene","entity_name":"PMPCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29576218"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 6, MIM#\t617954"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RZRB","NR1F2","ROR-BETA"],"biotype":"protein_coding","hgnc_id":"HGNC:10259","gene_name":"RAR related orphan receptor B","omim_gene":["601972"],"alias_name":null,"gene_symbol":"RORB","hgnc_symbol":"RORB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:77112281-77308093","ensembl_id":"ENSG00000198963"}},"GRch38":{"90":{"location":"9:74497365-74693177","ensembl_id":"ENSG00000198963"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"RORB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27352968","32162308"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["{Epilepsy, idiopathic generalized, susceptibility to, 15} (MIM#618357), AD","Genetic generalized epilepsy (GGE)","Photosensitive generalized and occipital epilepsy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OSCP","ATPO"],"biotype":"protein_coding","hgnc_id":"HGNC:850","gene_name":"ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit","omim_gene":["600828"],"alias_name":["oligomycin sensitivity conferring protein"],"gene_symbol":"ATP5O","hgnc_symbol":"ATP5O","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:35275757-35288284","ensembl_id":"ENSG00000241837"}},"GRch38":{"90":{"location":"21:33903453-33915980","ensembl_id":"ENSG00000241837"}}},"hgnc_date_symbol_changed":"1995-04-12"},"entity_type":"gene","entity_name":"ATP5O","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35621276","34954817"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16791","gene_name":"tRNA splicing endonuclease subunit 15","omim_gene":["608756"],"alias_name":null,"gene_symbol":"TSEN15","hgnc_symbol":"TSEN15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:184020811-184043346","ensembl_id":"ENSG00000198860"}},"GRch38":{"90":{"location":"1:184051677-184074212","ensembl_id":"ENSG00000198860"}}},"hgnc_date_symbol_changed":"2008-06-12"},"entity_type":"gene","entity_name":"TSEN15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 27392077"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Pontocerebellar hypoplasia, type 2F MIM#617026"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4384","gene_name":"G protein subunit alpha i1","omim_gene":["139310"],"alias_name":["Gi1 protein alpha subunit"],"gene_symbol":"GNAI1","hgnc_symbol":"GNAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:79763271-79848718","ensembl_id":"ENSG00000127955"}},"GRch38":{"90":{"location":"7:80133955-80219402","ensembl_id":"ENSG00000127955"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GNAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28135719","33473207"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.412","version_created":"2026-04-26T17:44:15.608548+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1155,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5384","gene_name":"isocitrate dehydrogenase 3 (NAD(+)) alpha","omim_gene":["601149"],"alias_name":["H-IDH alpha","isocitric dehydrogenase","isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial","NAD+-specific ICDH","NAD(H)-specific isocitrate dehydrogenase alpha subunit","isocitrate dehydrogenase (NAD+) alpha chain"],"gene_symbol":"IDH3A","hgnc_symbol":"IDH3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:78423840-78464291","ensembl_id":"ENSG00000166411"}},"GRch38":{"90":{"location":"15:78131498-78171949","ensembl_id":"ENSG00000166411"}}},"hgnc_date_symbol_changed":"1995-11-02"},"entity_type":"gene","entity_name":"IDH3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31012789","30478029","30058936","28412069"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Retinitis pigmentosa 90, MIM#619007"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DNC","MUP1","TPC"],"biotype":"protein_coding","hgnc_id":"HGNC:14409","gene_name":"solute carrier family 25 member 19","omim_gene":["606521"],"alias_name":null,"gene_symbol":"SLC25A19","hgnc_symbol":"SLC25A19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:73269073-73285591","ensembl_id":"ENSG00000125454"}},"GRch38":{"90":{"location":"17:75272981-75289510","ensembl_id":"ENSG00000125454"}}},"hgnc_date_symbol_changed":"2001-09-27"},"entity_type":"gene","entity_name":"SLC25A19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31506564","31295743","12185364","19798730"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly, Amish type, MIM#607196","Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ETFQO"],"biotype":"protein_coding","hgnc_id":"HGNC:3483","gene_name":"electron transfer flavoprotein dehydrogenase","omim_gene":["231675"],"alias_name":null,"gene_symbol":"ETFDH","hgnc_symbol":"ETFDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:159593277-159630775","ensembl_id":"ENSG00000171503"}},"GRch38":{"90":{"location":"4:158672125-158709623","ensembl_id":"ENSG00000171503"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"ETFDH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Glutaric acidemia IIC, MIM#231680"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["humS6PKh1"],"biotype":"protein_coding","hgnc_id":"HGNC:10439","gene_name":"ribosomal protein S6 kinase C1","omim_gene":["617517"],"alias_name":null,"gene_symbol":"RPS6KC1","hgnc_symbol":"RPS6KC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:213224589-213448116","ensembl_id":"ENSG00000136643"}},"GRch38":{"90":{"location":"1:213051233-213274773","ensembl_id":"ENSG00000136643"}}},"hgnc_date_symbol_changed":"1999-12-14"},"entity_type":"gene","entity_name":"RPS6KC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41130203"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter, MIM# 621460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10541","gene_name":"SATB homeobox 1","omim_gene":["602075"],"alias_name":null,"gene_symbol":"SATB1","hgnc_symbol":"SATB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:18386879-18487080","ensembl_id":"ENSG00000182568"}},"GRch38":{"90":{"location":"3:18345387-18445588","ensembl_id":"ENSG00000182568"}}},"hgnc_date_symbol_changed":"1994-05-03"},"entity_type":"gene","entity_name":"SATB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["PMID: 33513338","33057194"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Kohlschutter-Tonz syndrome-like, MIM# 619229","Neurodevelopmental disorder","regression"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Sans","FLJ33924","ANKS4A"],"biotype":"protein_coding","hgnc_id":"HGNC:16356","gene_name":"USH1 protein network component sans","omim_gene":["607696"],"alias_name":null,"gene_symbol":"USH1G","hgnc_symbol":"USH1G","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72912176-72919351","ensembl_id":"ENSG00000182040"}},"GRch38":{"90":{"location":"17:74916084-74923256","ensembl_id":"ENSG00000182040"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"USH1G","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Deafness Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Usher syndrome, type 1G, MIM# 606943"],"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":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APRF"],"biotype":"protein_coding","hgnc_id":"HGNC:11364","gene_name":"signal transducer and activator of transcription 3","omim_gene":["102582"],"alias_name":null,"gene_symbol":"STAT3","hgnc_symbol":"STAT3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40465342-40540586","ensembl_id":"ENSG00000168610"}},"GRch38":{"90":{"location":"17:42313324-42388568","ensembl_id":"ENSG00000168610"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["17881745","14566054","25349174","25038750","25359994"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Hyper-IgE recurrent infection syndrome MIM# 147060","Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:15625","gene_name":"neuroblastoma amplified sequence","omim_gene":["608025"],"alias_name":null,"gene_symbol":"NBAS","hgnc_symbol":"NBAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:15307032-15701454","ensembl_id":"ENSG00000151779"}},"GRch38":{"90":{"location":"2:15166909-15561330","ensembl_id":"ENSG00000151779"}}},"hgnc_date_symbol_changed":"2009-02-16"},"entity_type":"gene","entity_name":"NBAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35902954"],"evidence":["Expert Review Green","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SISP1","GI24","B7-H5","B7H5","VISTA","PD-1H"],"biotype":"protein_coding","hgnc_id":"HGNC:30085","gene_name":"V-set immunoregulatory receptor","omim_gene":["615608"],"alias_name":["stress induced secreted protein 1","V-domain Ig suppressor of T cell activation","PDCD1 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This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PR65A","PP2A-Aalpha","PP2AA"],"biotype":"protein_coding","hgnc_id":"HGNC:9302","gene_name":"protein phosphatase 2 scaffold subunit Aalpha","omim_gene":["605983"],"alias_name":["protein phosphatase 2A, regulatory subunit A, alpha isoform","protein phosphatase 2, 65kDa regulatory subunit A","protein phosphatase 2A structural subunit A, alpha isoform"],"gene_symbol":"PPP2R1A","hgnc_symbol":"PPP2R1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:52693292-52730687","ensembl_id":"ENSG00000105568"}},"GRch38":{"90":{"location":"19:52190039-52229533","ensembl_id":"ENSG00000105568"}}},"hgnc_date_symbol_changed":"1993-01-25"},"entity_type":"gene","entity_name":"PPP2R1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26168268","33106617"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Mental retardation, autosomal dominant 36, MIM#616362","Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.760","version_created":"2026-04-26T17:50:23.271073+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Ul","LNP1","LNP"],"biotype":"protein_coding","hgnc_id":"HGNC:21610","gene_name":"lunapark, ER junction formation factor","omim_gene":["610236"],"alias_name":["limb and neural patterns"],"gene_symbol":"LNPK","hgnc_symbol":"LNPK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176788620-176867567","ensembl_id":"ENSG00000144320"}},"GRch38":{"90":{"location":"2:175923892-176002839","ensembl_id":"ENSG00000144320"}}},"hgnc_date_symbol_changed":"2016-07-07"},"entity_type":"gene","entity_name":"LNPK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30032983","35599435"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM# 618090"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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":["CI-24k"],"biotype":"protein_coding","hgnc_id":"HGNC:7717","gene_name":"NADH:ubiquinone oxidoreductase core subunit V2","omim_gene":["600532"],"alias_name":["complex I 24kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"],"gene_symbol":"NDUFV2","hgnc_symbol":"NDUFV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:9102628-9134343","ensembl_id":"ENSG00000178127"}},"GRch38":{"90":{"location":"18:9102630-9134345","ensembl_id":"ENSG00000178127"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"NDUFV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, 252010 (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":["FLJ13335","ZFYVE7"],"biotype":"protein_coding","hgnc_id":"HGNC:14673","gene_name":"FYVE and coiled-coil domain containing 1","omim_gene":["607182"],"alias_name":null,"gene_symbol":"FYCO1","hgnc_symbol":"FYCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45959396-46037316","ensembl_id":"ENSG00000163820"}},"GRch38":{"90":{"location":"3:45917899-45995824","ensembl_id":"ENSG00000163820"}}},"hgnc_date_symbol_changed":"2001-03-06"},"entity_type":"gene","entity_name":"FYCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cataract 18, autosomal recessive, 610019 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12831","gene_name":"X-ray repair cross complementing 4","omim_gene":["194363"],"alias_name":["X-ray repair, complementing defective, repair in Chinese hamster","DNA repair protein XRCC4"],"gene_symbol":"XRCC4","hgnc_symbol":"XRCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:82373317-82649606","ensembl_id":"ENSG00000152422"}},"GRch38":{"90":{"location":"5:83077498-83353787","ensembl_id":"ENSG00000152422"}}},"hgnc_date_symbol_changed":"1990-10-16"},"entity_type":"gene","entity_name":"XRCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Short stature, microcephaly, and endocrine dysfunction, 616541 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12651","gene_name":"valyl-tRNA synthetase","omim_gene":["192150"],"alias_name":["valine tRNA ligase 1, cytoplasmic"],"gene_symbol":"VARS","hgnc_symbol":"VARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31745295-31763730","ensembl_id":"ENSG00000204394"}},"GRch38":{"90":{"location":"6:31777518-31795953","ensembl_id":"ENSG00000204394"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"VARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12261","gene_name":"triadin","omim_gene":["603283"],"alias_name":null,"gene_symbol":"TRDN","hgnc_symbol":"TRDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:123537483-123958238","ensembl_id":"ENSG00000186439"}},"GRch38":{"90":{"location":"6:123216339-123637093","ensembl_id":"ENSG00000186439"}}},"hgnc_date_symbol_changed":"1999-12-17"},"entity_type":"gene","entity_name":"TRDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (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":["trnQ"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7495","gene_name":"mitochondrially encoded tRNA glutamine","omim_gene":["590030"],"alias_name":null,"gene_symbol":"MT-TQ","hgnc_symbol":"MT-TQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}},"GRch38":{"90":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TQ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["11171912","10996779","17003408","11335700"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TQ-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NPD002","MGC14452"],"biotype":"protein_coding","hgnc_id":"HGNC:21497","gene_name":"acyl-CoA dehydrogenase family member 9","omim_gene":["611103"],"alias_name":null,"gene_symbol":"ACAD9","hgnc_symbol":"ACAD9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128598439-128634910","ensembl_id":"ENSG00000177646"}},"GRch38":{"90":{"location":"3:128879596-128916067","ensembl_id":"ENSG00000177646"}}},"hgnc_date_symbol_changed":"2003-06-18"},"entity_type":"gene","entity_name":"ACAD9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17564966"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ2194","FLJ10053","DKFZp564A186"],"biotype":"protein_coding","hgnc_id":"HGNC:24721","gene_name":"YTH domain containing 2","omim_gene":["616530"],"alias_name":null,"gene_symbol":"YTHDC2","hgnc_symbol":"YTHDC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:112849380-112930982","ensembl_id":"ENSG00000047188"}},"GRch38":{"90":{"location":"5:113513683-113595285","ensembl_id":"ENSG00000047188"}}},"hgnc_date_symbol_changed":"2004-06-01"},"entity_type":"gene","entity_name":"YTHDC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29033321, 29360036, 35138268"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Primary ovarian failure, MONDO:0005387"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PHT1","PTR4"],"biotype":"protein_coding","hgnc_id":"HGNC:23090","gene_name":"solute carrier family 15 member 4","omim_gene":["615806"],"alias_name":null,"gene_symbol":"SLC15A4","hgnc_symbol":"SLC15A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:129277739-129308528","ensembl_id":"ENSG00000139370"}},"GRch38":{"90":{"location":"12:128793191-128823983","ensembl_id":"ENSG00000139370"}}},"hgnc_date_symbol_changed":"2003-09-09"},"entity_type":"gene","entity_name":"SLC15A4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29261175"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["No OMIM number"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.226","version_created":"2026-04-23T15:35:12.037215+10:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":128,"number_of_strs":1,"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":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10385","TCAB1"],"biotype":"protein_coding","hgnc_id":"HGNC:25522","gene_name":"WD repeat containing antisense to TP53","omim_gene":["612661"],"alias_name":["telomerase cajal body protein 1","WD-encoding RNA antisense to p53"],"gene_symbol":"WRAP53","hgnc_symbol":"WRAP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7589389-7606820","ensembl_id":"ENSG00000141499"}},"GRch38":{"90":{"location":"17:7686071-7703502","ensembl_id":"ENSG00000141499"}}},"hgnc_date_symbol_changed":"2009-02-16"},"entity_type":"gene","entity_name":"WRAP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21205863","32303682","29514627"],"evidence":["Expert Review Green","BabySeq Category C gene"],"phenotypes":["Dyskeratosis congenita, autosomal recessive 3, MIM# 613988"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8926","gene_name":"phosphorylase kinase regulatory subunit alpha 2","omim_gene":["300798"],"alias_name":null,"gene_symbol":"PHKA2","hgnc_symbol":"PHKA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:18910418-19002716","ensembl_id":"ENSG00000044446"}},"GRch38":{"90":{"location":"X:18892300-18984598","ensembl_id":"ENSG00000044446"}}},"hgnc_date_symbol_changed":"1991-05-09"},"entity_type":"gene","entity_name":"PHKA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Phosphorylase kinase deficiency"],"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":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher disease"],"gene_symbol":"PLP1","hgnc_symbol":"PLP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:103028647-103047548","ensembl_id":"ENSG00000123560"}},"GRch38":{"90":{"location":"X:103773718-103792619","ensembl_id":"ENSG00000123560"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PLP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Spastic paraplegia 2, X-linked","Pelizaeus-Merzbacher disease"],"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":["CL640","FLJ26072"],"biotype":"protein_coding","hgnc_id":"HGNC:25223","gene_name":"coenzyme Q2, polyprenyltransferase","omim_gene":["609825"],"alias_name":["4-hydroxybenzoate polyprenyltransferase"],"gene_symbol":"COQ2","hgnc_symbol":"COQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:84182689-84206067","ensembl_id":"ENSG00000173085"}},"GRch38":{"90":{"location":"4:83261536-83284914","ensembl_id":"ENSG00000173085"}}},"hgnc_date_symbol_changed":"2005-07-05"},"entity_type":"gene","entity_name":"COQ2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Coenzyme Q10 deficiency, primary, 1"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red"],"phenotypes":["MPPH1","MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","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":["HHG1","SMMCI","TPT","TPTPS","MCOPCB5"],"biotype":"protein_coding","hgnc_id":"HGNC:10848","gene_name":"sonic hedgehog","omim_gene":["600725"],"alias_name":null,"gene_symbol":"SHH","hgnc_symbol":"SHH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:155592680-155604967","ensembl_id":"ENSG00000164690"}},"GRch38":{"90":{"location":"7:155799986-155812273","ensembl_id":"ENSG00000164690"}}},"hgnc_date_symbol_changed":"1995-03-10"},"entity_type":"gene","entity_name":"SHH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["HOLOPROSENCEPHALY 3","HPE3"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"0.318","version_created":"2026-04-27T11:53:17.890231+10:00","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":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","14758361","15793702","15220035","15483095","16470797"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750","Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["W117m"],"biotype":"protein_coding","hgnc_id":"HGNC:17474","gene_name":"endothelial cell adhesion molecule","omim_gene":["614281"],"alias_name":null,"gene_symbol":"ESAM","hgnc_symbol":"ESAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:124622026-124632186","ensembl_id":"ENSG00000149564"}},"GRch38":{"90":{"location":"11:124752583-124762290","ensembl_id":"ENSG00000149564"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"ESAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36996813"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with intracranial haemorrhage, seizures, and spasticity, MIM# 620371"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["TP53BPL","LUN"],"biotype":"protein_coding","hgnc_id":"HGNC:21653","gene_name":"TOP1 binding arginine/serine rich protein","omim_gene":["609507"],"alias_name":null,"gene_symbol":"TOPORS","hgnc_symbol":"TOPORS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32540542-32552551","ensembl_id":"ENSG00000197579"}},"GRch38":{"90":{"location":"9:32540544-32552553","ensembl_id":"ENSG00000197579"}}},"hgnc_date_symbol_changed":"2003-07-07"},"entity_type":"gene","entity_name":"TOPORS","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34132027"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["MONDO:0005308","ciliopathy","postaxial polydactyly","multiple lingual hamartomas","dysmorphic features"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["NMMHCA","NMHC-II-A","MHA","FTNS","EPSTS"],"biotype":"protein_coding","hgnc_id":"HGNC:7579","gene_name":"myosin heavy chain 9","omim_gene":["160775"],"alias_name":["nonmuscle myosin heavy chain II-A"],"gene_symbol":"MYH9","hgnc_symbol":"MYH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:36677327-36784063","ensembl_id":"ENSG00000100345"}},"GRch38":{"90":{"location":"22:36281281-36388018","ensembl_id":"ENSG00000100345"}}},"hgnc_date_symbol_changed":"1990-03-12"},"entity_type":"gene","entity_name":"MYH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28727984"],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Gaucher disease, perinatal lethal, 608013 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPC2","FLJ10388"],"biotype":"protein_coding","hgnc_id":"HGNC:30348","gene_name":"RNA polymerase III subunit B","omim_gene":["614366"],"alias_name":null,"gene_symbol":"POLR3B","hgnc_symbol":"POLR3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:106751436-106903976","ensembl_id":"ENSG00000013503"}},"GRch38":{"90":{"location":"12:106357658-106510198","ensembl_id":"ENSG00000013503"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27512013","23355746","22036171","22036172","25339210","33005949","22855961","33417887"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.1","KCNA8","KVLQT1","JLNS1","LQT1"],"biotype":"protein_coding","hgnc_id":"HGNC:6294","gene_name":"potassium voltage-gated channel subfamily Q member 1","omim_gene":["607542"],"alias_name":["Jervell and Lange-Nielsen syndrome 1"],"gene_symbol":"KCNQ1","hgnc_symbol":"KCNQ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2465914-2870339","ensembl_id":"ENSG00000053918"}},"GRch38":{"90":{"location":"11:2444684-2849109","ensembl_id":"ENSG00000053918"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"KCNQ1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29033053","28438721"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Jervell and Lange-Nielsen syndrome, 220400 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EIF2Bepsilon","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3261","gene_name":"eukaryotic translation initiation factor 2B subunit epsilon","omim_gene":["603945"],"alias_name":null,"gene_symbol":"EIF2B5","hgnc_symbol":"EIF2B5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183852826-184402546","ensembl_id":"ENSG00000145191"}},"GRch38":{"90":{"location":"3:184135038-184145311","ensembl_id":"ENSG00000145191"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20975056","37674283","25761052"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter, 603896 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MCCA"],"biotype":"protein_coding","hgnc_id":"HGNC:6936","gene_name":"methylcrotonoyl-CoA carboxylase 1","omim_gene":["609010"],"alias_name":["methylcrotonoyl-CoA carboxylase alpha"],"gene_symbol":"MCCC1","hgnc_symbol":"MCCC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:182733006-182833863","ensembl_id":"ENSG00000078070"}},"GRch38":{"90":{"location":"3:183015218-183116075","ensembl_id":"ENSG00000078070"}}},"hgnc_date_symbol_changed":"1992-12-07"},"entity_type":"gene","entity_name":"MCCC1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22642865","31730530"],"evidence":["Expert Review Red","BabySeq Category B gene","BeginNGS"],"phenotypes":["3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200"],"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":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Aromatic L-amino acid decarboxylase deficiency, MIM#608643"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","clinical trial","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RE2"],"biotype":"protein_coding","hgnc_id":"HGNC:23694","gene_name":"G protein-coupled receptor 161","omim_gene":["612250"],"alias_name":null,"gene_symbol":"GPR161","hgnc_symbol":"GPR161","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:168053997-168106821","ensembl_id":"ENSG00000143147"}},"GRch38":{"90":{"location":"1:168079543-168137667","ensembl_id":"ENSG00000143147"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"GPR161","confidence_level":"1","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 31609649"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Medulloblastoma predisposition syndrome MIM#155255"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["cancer"],"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":["FLJ34884"],"biotype":"protein_coding","hgnc_id":"HGNC:25118","gene_name":"OTU deubiquitinase with linear linkage specificity","omim_gene":["615712"],"alias_name":["gumby"],"gene_symbol":"OTULIN","hgnc_symbol":"OTULIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:14664773-14699820","ensembl_id":"ENSG00000154124"}},"GRch38":{"90":{"location":"5:14664664-14699711","ensembl_id":"ENSG00000154124"}}},"hgnc_date_symbol_changed":"2014-03-11"},"entity_type":"gene","entity_name":"OTULIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Pwdmp","KIAA1638","FLJ23127","ORF26","DYF-2","Oseg6","IFT144","NPHP13"],"biotype":"protein_coding","hgnc_id":"HGNC:18340","gene_name":"WD repeat domain 19","omim_gene":["608151"],"alias_name":["intraflagellar transport 144 homolog (Chlamydomonas)"],"gene_symbol":"WDR19","hgnc_symbol":"WDR19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39184024-39287430","ensembl_id":"ENSG00000157796"}},"GRch38":{"90":{"location":"4:39182404-39285810","ensembl_id":"ENSG00000157796"}}},"hgnc_date_symbol_changed":"2002-04-26"},"entity_type":"gene","entity_name":"WDR19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Nephronophthisis"],"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; 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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":["Nav1.4","HYPP","SkM1"],"biotype":"protein_coding","hgnc_id":"HGNC:10591","gene_name":"sodium voltage-gated channel alpha subunit 4","omim_gene":["603967"],"alias_name":null,"gene_symbol":"SCN4A","hgnc_symbol":"SCN4A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62015914-62050278","ensembl_id":"ENSG00000007314"}},"GRch38":{"90":{"location":"17:63938554-63972918","ensembl_id":"ENSG00000007314"}}},"hgnc_date_symbol_changed":"1990-09-30"},"entity_type":"gene","entity_name":"SCN4A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34671263","11591859","8385748"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390","Myasthenic syndrome, congenital, 16, MIM# 614198","Hypokalemic periodic paralysis, type 2, MIM# 613345","Paramyotonia congenita , MIM#168300","Hyperkalemic periodic paralysis, type 2, MIM# 170500"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SMMHC","SMHC"],"biotype":"protein_coding","hgnc_id":"HGNC:7569","gene_name":"myosin heavy chain 11","omim_gene":["160745"],"alias_name":null,"gene_symbol":"MYH11","hgnc_symbol":"MYH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:15797029-15950890","ensembl_id":"ENSG00000133392"}},"GRch38":{"90":{"location":"16:15703172-15857033","ensembl_id":"ENSG00000133392"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"MYH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Aortic aneurysm, familial thoracic 4, MIM# 132900"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. 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errors of purine, pyrimidine, and nucleic acid metabolism.\r\n\r\nIt is a component of the Metabolic Disorders Superpanel.","status":"public","version":"0.8","version_created":"2025-05-08T15:56:43.556103+10:00","relevant_disorders":[],"stats":{"number_of_genes":44,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 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