{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=246","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=244","results":[{"gene_data":{"alias":["ICH1","PPP1R57","MGC2181"],"biotype":"protein_coding","hgnc_id":"HGNC:1503","gene_name":"caspase 2","omim_gene":["600639"],"alias_name":["protein phosphatase 1, regulatory subunit 57"],"gene_symbol":"CASP2","hgnc_symbol":"CASP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142985308-143004789","ensembl_id":"ENSG00000106144"}},"GRch38":{"90":{"location":"7:143288215-143307696","ensembl_id":"ENSG00000106144"}}},"hgnc_date_symbol_changed":"1994-01-21"},"entity_type":"gene","entity_name":"CASP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37880421"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM# 620653"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":15,"hash_id":null,"name":"Lissencephaly and Band Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Brain Malformations flagship, and is maintained by VCGS. 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The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["hTAFII68","RBP56","Npl3"],"biotype":null,"hgnc_id":"HGNC:11547","gene_name":"TATA-box binding protein associated factor 15","omim_gene":["601574"],"alias_name":null,"gene_symbol":"TAF15","hgnc_symbol":"TAF15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:34136459-34191619","ensembl_id":"ENSG00000172660"}},"GRch38":{"90":{"location":"17:35713791-35864615","ensembl_id":"ENSG00000270647"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"TAF15","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["21438137","22065782","27810362","28889094"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Amyotrophic lateral sclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":25,"hash_id":null,"name":"Motor Neurone Disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause motor neurone disease, including amyotrophic lateral sclerosis and genes causing spinal muscular atrophies (SMAs) with adult onset. 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It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.55","version_created":"2026-04-17T16:01:21.596122+10:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0024","PSSA","PSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:9587","gene_name":"phosphatidylserine synthase 1","omim_gene":["612792"],"alias_name":null,"gene_symbol":"PTDSS1","hgnc_symbol":"PTDSS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97273943-97349223","ensembl_id":"ENSG00000156471"}},"GRch38":{"90":{"location":"8:96261715-96336995","ensembl_id":"ENSG00000156471"}}},"hgnc_date_symbol_changed":"2000-01-21"},"entity_type":"gene","entity_name":"PTDSS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["24241535","29341480","31403251"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Lenz-Majewski hyperostotic dwarfism MIM#151050"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"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":["CDGS","CDG1a","PMI","PMI1"],"biotype":"protein_coding","hgnc_id":"HGNC:9115","gene_name":"phosphomannomutase 2","omim_gene":["601785"],"alias_name":["phosphomannose isomerase 1","mannose-6-phosphate isomerase"],"gene_symbol":"PMM2","hgnc_symbol":"PMM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8882680-8943188","ensembl_id":"ENSG00000140650"}},"GRch38":{"90":{"location":"16:8788823-8849331","ensembl_id":"ENSG00000140650"}}},"hgnc_date_symbol_changed":"1997-05-22"},"entity_type":"gene","entity_name":"PMM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type Ia, OMIM #212065"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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to diminished or absent haematopoietic precursors in the bone marrow and attendant cytopaenias.\r\n\r\nThis panel was developed and is maintained by VCGS. 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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":["EFO2"],"biotype":"protein_coding","hgnc_id":"HGNC:27230","gene_name":"establishment of sister chromatid cohesion N-acetyltransferase 2","omim_gene":["609353"],"alias_name":null,"gene_symbol":"ESCO2","hgnc_symbol":"ESCO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:27629466-27670157","ensembl_id":"ENSG00000171320"}},"GRch38":{"90":{"location":"8:27771949-27812640","ensembl_id":"ENSG00000171320"}}},"hgnc_date_symbol_changed":"2005-01-04"},"entity_type":"gene","entity_name":"ESCO2","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["31192177"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["268300 ROBERTS SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It is a consensus panel used by RMH. It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Ndt80","pqn-47","MRF"],"biotype":"protein_coding","hgnc_id":"HGNC:1181","gene_name":"myelin regulatory factor","omim_gene":["608329"],"alias_name":["myelin gene regulatory factor"],"gene_symbol":"MYRF","hgnc_symbol":"MYRF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61520114-61555990","ensembl_id":"ENSG00000124920"}},"GRch38":{"90":{"location":"11:61752642-61788518","ensembl_id":"ENSG00000124920"}}},"hgnc_date_symbol_changed":"2012-12-19"},"entity_type":"gene","entity_name":"MYRF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30985895"],"evidence":["Expert Review Green","Literature"],"phenotypes":["disorders of sex development"],"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":"1.50","version_created":"2026-04-12T14:14:27.453739+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":142,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MRPP3","PRORP"],"biotype":"protein_coding","hgnc_id":"HGNC:19958","gene_name":"KIAA0391","omim_gene":["609947"],"alias_name":["mitochondrial RNase P subunit 3","proteinaceous RNase P"],"gene_symbol":"KIAA0391","hgnc_symbol":"KIAA0391","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35591052-35743271","ensembl_id":"ENSG00000100890"}},"GRch38":{"90":{"location":"14:35121846-35277614","ensembl_id":"ENSG00000100890"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0391","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 34715011"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined oxidative phosphorylation deficiency 54, MIM#\t619737"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASXH2","FLJ10898","KIAA1685"],"biotype":"protein_coding","hgnc_id":"HGNC:23805","gene_name":"additional sex combs like 2, transcriptional regulator","omim_gene":["612991"],"alias_name":null,"gene_symbol":"ASXL2","hgnc_symbol":"ASXL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25956622-26101385","ensembl_id":"ENSG00000143970"}},"GRch38":{"90":{"location":"2:25733753-25878516","ensembl_id":"ENSG00000143970"}}},"hgnc_date_symbol_changed":"2003-12-11"},"entity_type":"gene","entity_name":"ASXL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27693232","33751773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Shashi-Pena syndrome, MIM# 617190"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","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":["25620203","30574673","33495304"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Singleton-Merten syndrome 2, MIM# 616298"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SCDO1"],"biotype":"protein_coding","hgnc_id":"HGNC:2909","gene_name":"delta like canonical Notch ligand 3","omim_gene":["602768"],"alias_name":null,"gene_symbol":"DLL3","hgnc_symbol":"DLL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39989535-39999121","ensembl_id":"ENSG00000090932"}},"GRch38":{"90":{"location":"19:39498895-39508481","ensembl_id":"ENSG00000090932"}}},"hgnc_date_symbol_changed":"2000-03-15"},"entity_type":"gene","entity_name":"DLL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10742114","12746394"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZp434D0513","KIAA1864","PPP1R31","CILD5"],"biotype":"protein_coding","hgnc_id":"HGNC:19368","gene_name":"HYDIN, axonemal central pair apparatus protein","omim_gene":["610812"],"alias_name":["protein phosphatase 1, regulatory subunit 31"],"gene_symbol":"HYDIN","hgnc_symbol":"HYDIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70841281-71264625","ensembl_id":"ENSG00000157423"}},"GRch38":{"90":{"location":"16:70807378-71230722","ensembl_id":"ENSG00000157423"}}},"hgnc_date_symbol_changed":"2003-06-27"},"entity_type":"gene","entity_name":"HYDIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23022101","23849777","28441829","31116566"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 5 (MIM#608647)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CIA30","CGI-65"],"biotype":"protein_coding","hgnc_id":"HGNC:18828","gene_name":"NADH:ubiquinone oxidoreductase complex assembly factor 1","omim_gene":["606934"],"alias_name":null,"gene_symbol":"NDUFAF1","hgnc_symbol":"NDUFAF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:41679551-41694717","ensembl_id":"ENSG00000137806"}},"GRch38":{"90":{"location":"15:41387349-41402519","ensembl_id":"ENSG00000137806"}}},"hgnc_date_symbol_changed":"2004-02-02"},"entity_type":"gene","entity_name":"NDUFAF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17557076","21931170","16218961","24963768","34975718"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10896","gene_name":"SKI proto-oncogene","omim_gene":["164780"],"alias_name":null,"gene_symbol":"SKI","hgnc_symbol":"SKI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2160134-2241558","ensembl_id":"ENSG00000157933"}},"GRch38":{"90":{"location":"1:2228695-2310119","ensembl_id":"ENSG00000157933"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SKI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15884042","23023332"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Shprintzen-Goldberg syndrome, MIM#182212"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CARS1"],"biotype":"protein_coding","hgnc_id":"HGNC:1493","gene_name":"cysteinyl-tRNA synthetase","omim_gene":["123859"],"alias_name":["cysteine tRNA ligase 1, cytoplasmic"],"gene_symbol":"CARS","hgnc_symbol":"CARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3022152-3078843","ensembl_id":"ENSG00000110619"}},"GRch38":{"90":{"location":"11:3000922-3057613","ensembl_id":"ENSG00000110619"}}},"hgnc_date_symbol_changed":"1992-12-10"},"entity_type":"gene","entity_name":"CARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41121266","39963003","30824121"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRIP-1","eIF3-beta","eIF3-p36","eIF3i"],"biotype":"protein_coding","hgnc_id":"HGNC:3272","gene_name":"eukaryotic translation initiation factor 3 subunit I","omim_gene":["603911"],"alias_name":null,"gene_symbol":"EIF3I","hgnc_symbol":"EIF3I","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:32687529-32697205","ensembl_id":"ENSG00000084623"}},"GRch38":{"90":{"location":"1:32221928-32231604","ensembl_id":"ENSG00000084623"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3I","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Amber","Other"],"phenotypes":["complex neurodevelopmental disorder MONDO:0100038"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SSBP","mtSSB"],"biotype":"protein_coding","hgnc_id":"HGNC:11317","gene_name":"single stranded DNA binding protein 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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":["KIAA0898","POB1","TEF3"],"biotype":"protein_coding","hgnc_id":"HGNC:7523","gene_name":"tripartite motif containing 37","omim_gene":["605073"],"alias_name":["RING-B-box-coiled-coil 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VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["S29"],"biotype":"protein_coding","hgnc_id":"HGNC:10419","gene_name":"ribosomal protein 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'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LOH1CR12"],"biotype":"protein_coding","hgnc_id":"HGNC:17950","gene_name":"BLOC-1 related complex subunit 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deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["JBTS22"],"biotype":"protein_coding","hgnc_id":"HGNC:8788","gene_name":"phosphodiesterase 6D","omim_gene":["602676"],"alias_name":null,"gene_symbol":"PDE6D","hgnc_symbol":"PDE6D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232597135-232650982","ensembl_id":"ENSG00000156973"}},"GRch38":{"90":{"location":"2:231732425-231786272","ensembl_id":"ENSG00000156973"}}},"hgnc_date_symbol_changed":"1997-11-03"},"entity_type":"gene","entity_name":"PDE6D","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24166846"],"evidence":["Expert Review Amber","Expert Review Red","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 22, OMIM #615665"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC39558"],"biotype":"protein_coding","hgnc_id":"HGNC:28596","gene_name":"beta-1,3-N-acetylgalactosaminyltransferase 2","omim_gene":["610194"],"alias_name":null,"gene_symbol":"B3GALNT2","hgnc_symbol":"B3GALNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235613238-235667781","ensembl_id":"ENSG00000162885"}},"GRch38":{"90":{"location":"1:235449923-235504481","ensembl_id":"ENSG00000162885"}}},"hgnc_date_symbol_changed":"2005-02-10"},"entity_type":"gene","entity_name":"B3GALNT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29791932, PMID: 29273094, PMID: 35127920"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 MIM#615181"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["QRF1","12CC4","HSPC215","hFKH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:3823","gene_name":"forkhead box P1","omim_gene":["605515"],"alias_name":["fork head-related protein like B","glutamine-rich factor 1","PAX5/FOXP1 fusion protein"],"gene_symbol":"FOXP1","hgnc_symbol":"FOXP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:71003844-71633140","ensembl_id":"ENSG00000114861"}},"GRch38":{"90":{"location":"3:70954693-71583989","ensembl_id":"ENSG00000114861"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"FOXP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26633542","28741757","34109629"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Intellectual developmental disorder with language impairment with or without autistic features, MIM#\t613670"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:33154","gene_name":"extracellular leucine rich repeat and fibronectin type III domain containing 1","omim_gene":["614964"],"alias_name":null,"gene_symbol":"ELFN1","hgnc_symbol":"ELFN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:1727755-1787590","ensembl_id":"ENSG00000225968"}},"GRch38":{"90":{"location":"7:1688119-1747954","ensembl_id":"ENSG00000225968"}}},"hgnc_date_symbol_changed":"2011-10-27"},"entity_type":"gene","entity_name":"ELFN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:40576023"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"RARS2","hgnc_symbol":"RARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88224096-88299721","ensembl_id":"ENSG00000146282"}},"GRch38":{"90":{"location":"6:87514378-87590003","ensembl_id":"ENSG00000146282"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"RARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31536827"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Pontocerebellar hypoplasia, type 6 MIM#611523"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRNS2","RP8"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7498","gene_name":"mitochondrially encoded tRNA serine 2 (AGU/C)","omim_gene":["590085"],"alias_name":null,"gene_symbol":"MT-TS2","hgnc_symbol":"MT-TS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:12207-12265","ensembl_id":"ENSG00000210184"}},"GRch38":{"90":{"location":"MT:12207-12265","ensembl_id":"ENSG00000210184"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9792552","10090882","16950817","21257182","22369973","22378285"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TS2-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":["FLJ21127","TECT1","JBTS13"],"biotype":"protein_coding","hgnc_id":"HGNC:26113","gene_name":"tectonic family member 1","omim_gene":["609863"],"alias_name":null,"gene_symbol":"TCTN1","hgnc_symbol":"TCTN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:111051832-111087235","ensembl_id":"ENSG00000204852"}},"GRch38":{"90":{"location":"12:110614027-110649430","ensembl_id":"ENSG00000204852"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"TCTN1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["31302911","28631893","21725307","26477546","34980503"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome 13, MIM# 614173","MONDO:0013608"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1544","BCL8B","FLJ10197","LYST2"],"biotype":"protein_coding","hgnc_id":"HGNC:7648","gene_name":"neurobeachin","omim_gene":["604889"],"alias_name":null,"gene_symbol":"NBEA","hgnc_symbol":"NBEA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:35516424-36247159","ensembl_id":"ENSG00000172915"}},"GRch38":{"90":{"location":"13:34942287-35673022","ensembl_id":"ENSG00000172915"}}},"hgnc_date_symbol_changed":"1999-12-16"},"entity_type":"gene","entity_name":"NBEA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269351","28554332","12746398","12826745","11450821","3377648","23277425","22109531","23153818"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neurodevelopmental disorder with or without early-onset generalized epilepsy, MIM#\t619157","Intellectual disability","Seizures"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11195","gene_name":"SRY-box 2","omim_gene":["184429"],"alias_name":null,"gene_symbol":"SOX2","hgnc_symbol":"SOX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:181429714-181432221","ensembl_id":"ENSG00000181449"}},"GRch38":{"90":{"location":"3:181711924-181714436","ensembl_id":"ENSG00000181449"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"SOX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30450772","28121235","25542770","24498598","24211324","24033328","21326281"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Microphthalmia, syndromic 3, MIM# 206900","Optic nerve hypoplasia and abnormalities of the central nervous system, MIM# 206900"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H4/j"],"biotype":null,"hgnc_id":"HGNC:4790","gene_name":"histone cluster 1 H4 family member e","omim_gene":["602830"],"alias_name":null,"gene_symbol":"HIST1H4E","hgnc_symbol":"HIST1H4E","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2003-02-14"},"entity_type":"gene","entity_name":"HIST1H4E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35202563"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["new gene name"],"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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["bA106M7.3"],"biotype":"protein_coding","hgnc_id":"HGNC:29320","gene_name":"family with sequence similarity 160 member B1","omim_gene":["617312"],"alias_name":null,"gene_symbol":"FAM160B1","hgnc_symbol":"FAM160B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:116581503-116659591","ensembl_id":"ENSG00000151553"}},"GRch38":{"90":{"location":"10:114821744-114899832","ensembl_id":"ENSG00000151553"}}},"hgnc_date_symbol_changed":"2008-06-05"},"entity_type":"gene","entity_name":"FAM160B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31353455","27431290"],"evidence":["Expert Review Red","Literature"],"phenotypes":["no OMIM number yet"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HSS","MPS3A","SFMD"],"biotype":"protein_coding","hgnc_id":"HGNC:10818","gene_name":"N-sulfoglucosamine sulfohydrolase","omim_gene":["605270"],"alias_name":["sulfamidase","mucopolysaccharidosis type IIIA"],"gene_symbol":"SGSH","hgnc_symbol":"SGSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78180515-78194722","ensembl_id":"ENSG00000181523"}},"GRch38":{"90":{"location":"17:80206716-80220923","ensembl_id":"ENSG00000181523"}}},"hgnc_date_symbol_changed":"1997-06-24"},"entity_type":"gene","entity_name":"SGSH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","UKGTN","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Expert list","Emory Genetics Laboratory","Victorian Clinical Genetics Services"],"phenotypes":["Mucopolysaccharidisis type IIIA (Sanfilippo A) 252900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["REP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1940","gene_name":"CHM, Rab escort protein 1","omim_gene":["300390"],"alias_name":null,"gene_symbol":"CHM","hgnc_symbol":"CHM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:85116185-85302566","ensembl_id":"ENSG00000188419"}},"GRch38":{"90":{"location":"X:85861180-86047562","ensembl_id":"ENSG00000188419"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"CHM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":283,"hash_id":null,"name":"Congenital Stationary Night Blindness","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.24","version_created":"2026-01-09T18:46:33.929328+11:00","relevant_disorders":["Congenital stationary night blindness","HP:0007642; Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":21,"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":["PDC-E2"],"biotype":"protein_coding","hgnc_id":"HGNC:2896","gene_name":"dihydrolipoamide S-acetyltransferase","omim_gene":["608770"],"alias_name":["E2 component of pyruvate dehydrogenase complex"],"gene_symbol":"DLAT","hgnc_symbol":"DLAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:111895538-111935114","ensembl_id":"ENSG00000150768"}},"GRch38":{"90":{"location":"11:112024814-112064390","ensembl_id":"ENSG00000150768"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DLAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39007626","20022530","16049940"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Pyruvate dehydrogenase E2 deficiency 245348","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"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":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28842795","27102849"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4180","gene_name":"1,4-alpha-glucan branching enzyme 1","omim_gene":["607839"],"alias_name":["glycogen branching enzyme","Andersen disease","glycogen storage disease type IV"],"gene_symbol":"GBE1","hgnc_symbol":"GBE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:81538850-81811312","ensembl_id":"ENSG00000114480"}},"GRch38":{"90":{"location":"3:81489699-81762161","ensembl_id":"ENSG00000114480"}}},"hgnc_date_symbol_changed":"1993-06-21"},"entity_type":"gene","entity_name":"GBE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Polyglucosan body disease, adult form, 263570"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP566N034","SV31"],"biotype":"protein_coding","hgnc_id":"HGNC:25380","gene_name":"transmembrane protein 163","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM163","hgnc_symbol":"TMEM163","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:135213330-135476570","ensembl_id":"ENSG00000152128"}},"GRch38":{"90":{"location":"2:134455759-134719000","ensembl_id":"ENSG00000152128"}}},"hgnc_date_symbol_changed":"2006-07-04"},"entity_type":"gene","entity_name":"TMEM163","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 35953447"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hypomyelinating leukodystrophy, MONDO:0019046"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GAA1","hGAA1"],"biotype":"protein_coding","hgnc_id":"HGNC:4446","gene_name":"glycosylphosphatidylinositol anchor attachment 1","omim_gene":["603048"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"GPAA1","hgnc_symbol":"GPAA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145137493-145141119","ensembl_id":"ENSG00000197858"}},"GRch38":{"90":{"location":"8:144082590-144086216","ensembl_id":"ENSG00000197858"}}},"hgnc_date_symbol_changed":"1998-12-09"},"entity_type":"gene","entity_name":"GPAA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32533362"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Vascular malformation, MONDO:0024291, GPAA1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. Genes causing sporadic and congenital vascular malformations through somatic activating mutations are rated Red and labelled 'somatic'. This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EVEC","UP50","DANCE","ARMD3"],"biotype":"protein_coding","hgnc_id":"HGNC:3602","gene_name":"fibulin 5","omim_gene":["604580"],"alias_name":null,"gene_symbol":"FBLN5","hgnc_symbol":"FBLN5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92335756-92414331","ensembl_id":"ENSG00000140092"}},"GRch38":{"90":{"location":"14:91869412-91947987","ensembl_id":"ENSG00000140092"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"FBLN5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32757322","31945625","23328402","28332470"],"evidence":["Victorian Clinical Genetics Services","Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["HMSN","Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC176"],"biotype":"protein_coding","hgnc_id":"HGNC:30887","gene_name":"trafficking protein particle complex 2 like","omim_gene":["610970"],"alias_name":null,"gene_symbol":"TRAPPC2L","hgnc_symbol":"TRAPPC2L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88922628-88929094","ensembl_id":"ENSG00000167515"}},"GRch38":{"90":{"location":"16:88856220-88862686","ensembl_id":"ENSG00000167515"}}},"hgnc_date_symbol_changed":"2006-06-15"},"entity_type":"gene","entity_name":"TRAPPC2L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30120216","32843486"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:13281","gene_name":"espin","omim_gene":["606351"],"alias_name":null,"gene_symbol":"ESPN","hgnc_symbol":"ESPN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:6484848-6521430","ensembl_id":"ENSG00000187017"}},"GRch38":{"90":{"location":"1:6424788-6461370","ensembl_id":"ENSG00000187017"}}},"hgnc_date_symbol_changed":"2001-12-05"},"entity_type":"gene","entity_name":"ESPN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29572253"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Usher syndrome, type 1M, MIM#618632"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3086,"hash_id":null,"name":"Usher Syndrome","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"stats":{"number_of_genes":20,"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":["LZTR-1","BTBD29"],"biotype":"protein_coding","hgnc_id":"HGNC:6742","gene_name":"leucine zipper like transcription regulator 1","omim_gene":["600574"],"alias_name":null,"gene_symbol":"LZTR1","hgnc_symbol":"LZTR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:21333751-21353327","ensembl_id":"ENSG00000099949"}},"GRch38":{"90":{"location":"22:20979462-20999038","ensembl_id":"ENSG00000099949"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"LZTR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25795793","29469822"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Schwannomatosis-2, susceptibility to 615670","Noonan syndrome 10 616564"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1516","PLCE","NPHS3"],"biotype":"protein_coding","hgnc_id":"HGNC:17175","gene_name":"phospholipase C epsilon 1","omim_gene":["608414"],"alias_name":["nephrosis type 3","phosphoinositide phospholipase C"],"gene_symbol":"PLCE1","hgnc_symbol":"PLCE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:95753746-96092580","ensembl_id":"ENSG00000138193"}},"GRch38":{"90":{"location":"10:94030812-94332823","ensembl_id":"ENSG00000138193"}}},"hgnc_date_symbol_changed":"2002-02-18"},"entity_type":"gene","entity_name":"PLCE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nephrotic syndrome, type 3, 610725 (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":["RPC1","RPC155","hRPC155"],"biotype":"protein_coding","hgnc_id":"HGNC:30074","gene_name":"RNA polymerase III subunit A","omim_gene":["614258"],"alias_name":null,"gene_symbol":"POLR3A","hgnc_symbol":"POLR3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:79734907-79789303","ensembl_id":"ENSG00000148606"}},"GRch38":{"90":{"location":"10:77969251-78029545","ensembl_id":"ENSG00000148606"}}},"hgnc_date_symbol_changed":"2004-09-16"},"entity_type":"gene","entity_name":"POLR3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (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":["ABP-280","ABPL"],"biotype":"protein_coding","hgnc_id":"HGNC:3756","gene_name":"filamin C","omim_gene":["102565"],"alias_name":["actin binding protein 280","gamma filamin"],"gene_symbol":"FLNC","hgnc_symbol":"FLNC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:128470431-128499328","ensembl_id":"ENSG00000128591"}},"GRch38":{"90":{"location":"7:128830377-128859274","ensembl_id":"ENSG00000128591"}}},"hgnc_date_symbol_changed":"1993-08-24"},"entity_type":"gene","entity_name":"FLNC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Expert Review"],"phenotypes":[],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX40"],"biotype":null,"hgnc_id":"HGNC:4279","gene_name":"gap junction protein alpha 5","omim_gene":["121013"],"alias_name":["connexin 40"],"gene_symbol":"GJA5","hgnc_symbol":"GJA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147228332-147245484","ensembl_id":"ENSG00000143140"}},"GRch38":{"90":{"location":"1:147756199-147773362","ensembl_id":"ENSG00000265107"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Atrial fibrillation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9726","gene_name":"glycogen phosphorylase, muscle associated","omim_gene":["608455"],"alias_name":["McArdle syndrome","glycogen storage disease type V","glycogen phosphorylase, muscle form","myophosphorylase"],"gene_symbol":"PYGM","hgnc_symbol":"PYGM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64513861-64527769","ensembl_id":"ENSG00000068976"}},"GRch38":{"90":{"location":"11:64746389-64760297","ensembl_id":"ENSG00000068976"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PYGM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["McCardle disease MIM# 608455"],"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":["KIAA0249"],"biotype":"protein_coding","hgnc_id":"HGNC:14450","gene_name":"lipin 2","omim_gene":["605519"],"alias_name":null,"gene_symbol":"LPIN2","hgnc_symbol":"LPIN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:2916992-3013313","ensembl_id":"ENSG00000101577"}},"GRch38":{"90":{"location":"18:2916994-3013315","ensembl_id":"ENSG00000101577"}}},"hgnc_date_symbol_changed":"2001-01-24"},"entity_type":"gene","entity_name":"LPIN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15994876","33993107","33670882","33314777","31727123"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH"],"phenotypes":["Majeed syndrome, MIM# 609628","Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DT1P1A10","RP1-112K5.2","WGG1"],"biotype":"protein_coding","hgnc_id":"HGNC:25455","gene_name":"TSR2, ribosome maturation factor","omim_gene":["300945"],"alias_name":["WGG motif containing 1"],"gene_symbol":"TSR2","hgnc_symbol":"TSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:54466834-54471920","ensembl_id":"ENSG00000158526"}},"GRch38":{"90":{"location":"X:54440401-54445487","ensembl_id":"ENSG00000158526"}}},"hgnc_date_symbol_changed":"2006-07-03"},"entity_type":"gene","entity_name":"TSR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20301769","24942156"],"evidence":["Expert Review Red","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","Victorian Clinical Genetics Services"],"phenotypes":["Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Niemann-Pick disease, type C, 257220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5099","gene_name":"homeobox A1","omim_gene":["142955"],"alias_name":null,"gene_symbol":"HOXA1","hgnc_symbol":"HOXA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27132612-27135615","ensembl_id":"ENSG00000105991"}},"GRch38":{"90":{"location":"7:27092993-27095996","ensembl_id":"ENSG00000105991"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"HOXA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["17875913","20227628","18412118"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Athabaskan brainstem dysgenesis syndrome","Bosley-Salih-Alorainy syndrome - 601536"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAFT1","RAPT1","FLJ44809"],"biotype":"protein_coding","hgnc_id":"HGNC:3942","gene_name":"mechanistic target of rapamycin kinase","omim_gene":["601231"],"alias_name":["FK506 binding protein 12-rapamycin associated protein 2","rapamycin target protein","FKBP12-rapamycin complex-associated protein 1","FKBP-rapamycin associated protein","rapamycin associated protein FRAP2","dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)","rapamycin and FKBP12 target 1","mammalian target of rapamycin"],"gene_symbol":"MTOR","hgnc_symbol":"MTOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11166592-11322564","ensembl_id":"ENSG00000198793"}},"GRch38":{"90":{"location":"1:11106535-11262507","ensembl_id":"ENSG00000198793"}}},"hgnc_date_symbol_changed":"2009-05-29"},"entity_type":"gene","entity_name":"MTOR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27159400"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS GMS"],"phenotypes":["Hypomelanosis of Ito/Blaschko-linear hypopigmentation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["somatic"],"panel":{"id":3472,"hash_id":null,"name":"Mosaic skin disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause skin disorders as a result of somatic mutations and is suitable for use when affected tissue is being tested.\r\n\r\nPlease also refer to the Vascular Malformations_Somatic and Vascular Malformations_Germline panels for genes associated predominantly with vascular malformations of the skin.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.15","version_created":"2025-11-28T10:17:48.863556+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"stats":{"number_of_genes":44,"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":"Tasmanian Clinical Genetics Service","slug":"tasmanian-clinical-genetics-service","description":"Tasmanian Clinical Genetics Service"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OGR1"],"biotype":"protein_coding","hgnc_id":"HGNC:4519","gene_name":"G protein-coupled receptor 68","omim_gene":["601404"],"alias_name":null,"gene_symbol":"GPR68","hgnc_symbol":"GPR68","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:91698876-91720269","ensembl_id":"ENSG00000119714"}},"GRch38":{"90":{"location":"14:91232532-91253925","ensembl_id":"ENSG00000119714"}}},"hgnc_date_symbol_changed":"1999-10-22"},"entity_type":"gene","entity_name":"GPR68","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27693231","32279993"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3564,"hash_id":null,"name":"Amelogenesis imperfecta","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with amelogenesis imperfecta, which is characterised by dental hypomineralisation and/or hypoplasia, resulting in discolouration, sensitivity and fragility. Both the primary and secondary dentition are commonly affected. Amelogenesis imperfecta can either be isolated or part of other rare disorders.\r\n\r\nConsider the Ectodermal Dysplasia panel if relevant clinical features are present (skin/hair/nail abnormalities) and dental findings are not typical.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.14","version_created":"2026-01-09T15:02:14.439855+11:00","relevant_disorders":["Amelogenesis imperfecta","HP:0000705"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AS","ANCR","E6-AP","FLJ26981"],"biotype":"protein_coding","hgnc_id":"HGNC:12496","gene_name":"ubiquitin protein ligase E3A","omim_gene":["601623"],"alias_name":["Angelman syndrome"],"gene_symbol":"UBE3A","hgnc_symbol":"UBE3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:25582381-25684128","ensembl_id":"ENSG00000114062"}},"GRch38":{"90":{"location":"15:25333728-25439056","ensembl_id":"ENSG00000114062"}}},"hgnc_date_symbol_changed":"1993-10-21"},"entity_type":"gene","entity_name":"UBE3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12545427","8988172","http://igc.otago.ac.nz/home.html","18500341]","8988171","21974935","2309780","PMID: 9887341","[7795645","30794780"],"evidence":["Genomics England PanelApp","Expert Review Green"],"phenotypes":["Affected tissue: brain","Phenotype resulting from under expression: Angelman Syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)","tags":[],"panel":{"id":3663,"hash_id":null,"name":"Imprinting disorders","disease_group":"","disease_sub_group":"","description":"This panel includes:\r\n-- genes that are subject to imprinting, and where SNVs/CNVs cause disease; and\r\n-- genes associated with the regulation or modification of the imprinting process.","status":"public","version":"1.9","version_created":"2025-11-11T22:13:10.948475+11:00","relevant_disorders":[],"stats":{"number_of_genes":26,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IGFBP8","CCN2"],"biotype":"protein_coding","hgnc_id":"HGNC:2500","gene_name":"connective tissue growth factor","omim_gene":["121009"],"alias_name":null,"gene_symbol":"CTGF","hgnc_symbol":"CTGF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:132269316-132272513","ensembl_id":"ENSG00000118523"}},"GRch38":{"90":{"location":"6:131948176-131951373","ensembl_id":"ENSG00000118523"}}},"hgnc_date_symbol_changed":"1992-12-01"},"entity_type":"gene","entity_name":"CTGF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39506047"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Kyphomelic dysplasia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["Dicer","KIAA0928","K12H4.8-LIKE","HERNA"],"biotype":"protein_coding","hgnc_id":"HGNC:17098","gene_name":"dicer 1, ribonuclease III","omim_gene":["606241"],"alias_name":["dicer 1, double-stranded RNA-specific endoribonuclease"],"gene_symbol":"DICER1","hgnc_symbol":"DICER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:95552565-95624347","ensembl_id":"ENSG00000100697"}},"GRch38":{"90":{"location":"14:95086228-95158010","ensembl_id":"ENSG00000100697"}}},"hgnc_date_symbol_changed":"2002-05-09"},"entity_type":"gene","entity_name":"DICER1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27960159","29343557","26227654","33208384","35114704","31232238","24676357"],"evidence":["Expert Review Green","Literature"],"phenotypes":["GLOW syndrome, somatic mosaic\t- MIM#618272","Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors - MIM#138800","Pleuropulmonary blastoma - MIM#601200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SDR36C1"],"biotype":"protein_coding","hgnc_id":"HGNC:5154","gene_name":"15-hydroxyprostaglandin dehydrogenase","omim_gene":["601688"],"alias_name":["short chain dehydrogenase/reductase family 36C, member 1","15-hydroxyprostaglandin dehydrogenase (NAD(+))"],"gene_symbol":"HPGD","hgnc_symbol":"HPGD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:175411328-175444305","ensembl_id":"ENSG00000164120"}},"GRch38":{"90":{"location":"4:174490177-174523154","ensembl_id":"ENSG00000164120"}}},"hgnc_date_symbol_changed":"1991-07-16"},"entity_type":"gene","entity_name":"HPGD","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20406614","32282352","31878983","29282707"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hypertrophic osteoarthropathy, primary, autosomal recessive 1 MIM#259100","Cranioosteoarthropathy MIM#259100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP564K1964"],"biotype":"protein_coding","hgnc_id":"HGNC:24529","gene_name":"transmembrane protein 98","omim_gene":["615949"],"alias_name":null,"gene_symbol":"TMEM98","hgnc_symbol":"TMEM98","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:31254928-31272124","ensembl_id":"ENSG00000006042"}},"GRch38":{"90":{"location":"17:32927910-32945106","ensembl_id":"ENSG00000006042"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"TMEM98","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24852644","26392740"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Nanophthalmos 4, MONDO:0014426","Nanophthalmos 4, OMIM:615972"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22564885","12975158","20499493","10893071"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["ncontinentia pigmenti, MIM# 308300"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ALK6","CDw293"],"biotype":"protein_coding","hgnc_id":"HGNC:1077","gene_name":"bone morphogenetic protein receptor type 1B","omim_gene":["603248"],"alias_name":null,"gene_symbol":"BMPR1B","hgnc_symbol":"BMPR1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:95679119-96079599","ensembl_id":"ENSG00000138696"}},"GRch38":{"90":{"location":"4:94757968-95158448","ensembl_id":"ENSG00000138696"}}},"hgnc_date_symbol_changed":"1997-03-19"},"entity_type":"gene","entity_name":"BMPR1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15805157","24129431","26105076"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Acromesomelic dysplasia, Demirhan type, MIM# 609441"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PPP1R115"],"biotype":"protein_coding","hgnc_id":"HGNC:8104","gene_name":"occludin","omim_gene":["602876"],"alias_name":["tight junction protein occludin TM4 minus","phosphatase 1, regulatory subunit 115"],"gene_symbol":"OCLN","hgnc_symbol":"OCLN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:68788119-68853931","ensembl_id":"ENSG00000197822"}},"GRch38":{"90":{"location":"5:69492292-69558104","ensembl_id":"ENSG00000197822"}}},"hgnc_date_symbol_changed":"1998-01-20"},"entity_type":"gene","entity_name":"OCLN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20727516"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pseudo-TORCH syndrome 1, MIM#251290"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BBS17"],"biotype":"protein_coding","hgnc_id":"HGNC:6741","gene_name":"leucine zipper transcription factor like 1","omim_gene":["606568"],"alias_name":null,"gene_symbol":"LZTFL1","hgnc_symbol":"LZTFL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45864808-45957534","ensembl_id":"ENSG00000163818"}},"GRch38":{"90":{"location":"3:45823316-45916042","ensembl_id":"ENSG00000163818"}}},"hgnc_date_symbol_changed":"2000-06-16"},"entity_type":"gene","entity_name":"LZTFL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22510444","23692385","27312011","22072986","38801250","32686083","37239474"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bardet-Biedl syndrome 17 MIM#615994","MONDO:0014445"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD171"],"biotype":"protein_coding","hgnc_id":"HGNC:6470","gene_name":"L1 cell adhesion molecule","omim_gene":["308840"],"alias_name":["neural cell adhesion molecule L1"],"gene_symbol":"L1CAM","hgnc_symbol":"L1CAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153126969-153174677","ensembl_id":"ENSG00000198910"}},"GRch38":{"90":{"location":"X:153861514-153909223","ensembl_id":"ENSG00000198910"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"L1CAM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Hydrocephalus due to aqueductal stenosis, MIM# 307000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["AIF","CMTX4"],"biotype":"protein_coding","hgnc_id":"HGNC:8768","gene_name":"apoptosis inducing factor mitochondria associated 1","omim_gene":["300169"],"alias_name":null,"gene_symbol":"AIFM1","hgnc_symbol":"AIFM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:129263337-129299861","ensembl_id":"ENSG00000156709"}},"GRch38":{"90":{"location":"X:130129362-130165887","ensembl_id":"ENSG00000156709"}}},"hgnc_date_symbol_changed":"2006-11-16"},"entity_type":"gene","entity_name":"AIFM1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Combined oxidative phosphorylation deficiency 6, 300816","Cowchock syndrome, 310490","Deafness, X-linked 5, 300614","Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:634","gene_name":"aquaporin 2","omim_gene":["107777"],"alias_name":null,"gene_symbol":"AQP2","hgnc_symbol":"AQP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50344524-50352664","ensembl_id":"ENSG00000167580"}},"GRch38":{"90":{"location":"12:49950741-49958881","ensembl_id":"ENSG00000167580"}}},"hgnc_date_symbol_changed":"1993-07-09"},"entity_type":"gene","entity_name":"AQP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7537761","11536078","9649557","20301356","27156763","7524315"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Expert list"],"phenotypes":["Diabetes insipidus, nephrogenic MIM#125800"],"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":["CD42c","GPIbbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:4440","gene_name":"glycoprotein Ib platelet beta subunit","omim_gene":["138720"],"alias_name":["platelet glycoprotein Ib beta chain"],"gene_symbol":"GP1BB","hgnc_symbol":"GP1BB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:19710468-19712294","ensembl_id":"ENSG00000203618"}},"GRch38":{"90":{"location":"22:19722945-19724771","ensembl_id":"ENSG00000203618"}}},"hgnc_date_symbol_changed":"1991-11-21"},"entity_type":"gene","entity_name":"GP1BB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33813986","33657022","11222377","8703016","10887115","9116284","33216977","1730088","31997307"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Macrothrombocytopaenia","Bernard-Soulier syndrome, type B, MIM# 231200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPB","OI9"],"biotype":"protein_coding","hgnc_id":"HGNC:9255","gene_name":"peptidylprolyl isomerase B","omim_gene":["123841"],"alias_name":["cyclophilin B"],"gene_symbol":"PPIB","hgnc_symbol":"PPIB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:64448011-64455404","ensembl_id":"ENSG00000166794"}},"GRch38":{"90":{"location":"15:64155812-64163205","ensembl_id":"ENSG00000166794"}}},"hgnc_date_symbol_changed":"1991-11-25"},"entity_type":"gene","entity_name":"PPIB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32392875","19781681"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type IX, MIM# 259440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["THES"],"biotype":"protein_coding","hgnc_id":"HGNC:23639","gene_name":"tetratricopeptide repeat domain 37","omim_gene":["614589"],"alias_name":["thespin"],"gene_symbol":"TTC37","hgnc_symbol":"TTC37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:94799599-94890711","ensembl_id":"ENSG00000198677"}},"GRch38":{"90":{"location":"5:95463895-95555007","ensembl_id":"ENSG00000198677"}}},"hgnc_date_symbol_changed":"2008-06-11"},"entity_type":"gene","entity_name":"TTC37","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20176027","17318842"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trichohepatoenteric syndrome 1 MIM#222470"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MMAC1","TEP1","PTEN1"],"biotype":"protein_coding","hgnc_id":"HGNC:9588","gene_name":"phosphatase and tensin homolog","omim_gene":["601728"],"alias_name":["mutated in multiple advanced cancers 1"],"gene_symbol":"PTEN","hgnc_symbol":"PTEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:89622870-89731687","ensembl_id":"ENSG00000171862"}},"GRch38":{"90":{"location":"10:87863113-87971930","ensembl_id":"ENSG00000171862"}}},"hgnc_date_symbol_changed":"1997-04-21"},"entity_type":"gene","entity_name":"PTEN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Thyroid cancer, MONDO:0002108","Thyroid gland follicular carcinoma, MONDO:0005034","PTEN hamartoma tumor syndrome, MONDO:0017623","PTEN hamartoma tumour syndromes, MIM#158350"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4362,"hash_id":null,"name":"Thyroid Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with thyroid cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with thyroid cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:36:20.733311+11:00","relevant_disorders":[],"stats":{"number_of_genes":6,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZNF927"],"biotype":"protein_coding","hgnc_id":"HGNC:777","gene_name":"zinc finger homeobox 3","omim_gene":["104155"],"alias_name":null,"gene_symbol":"ZFHX3","hgnc_symbol":"ZFHX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:72816784-73093597","ensembl_id":"ENSG00000140836"}},"GRch38":{"90":{"location":"16:72782885-73144447","ensembl_id":"ENSG00000140836"}}},"hgnc_date_symbol_changed":"2007-08-09"},"entity_type":"str","entity_name":"ZFHX3_SCA4_GGC","confidence_level":"3","penetrance":null,"publications":["38035881","38197134"],"evidence":["Expert Review Green","Literature"],"phenotypes":["spinocerebellar ataxia type 4 MONDO:0010847"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGC","chromosome":"16","grch37_coordinates":[72821594,72821657],"grch38_coordinates":[72787695,72787758],"normal_repeats":30,"pathogenic_repeats":48,"tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"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":[]}}]}