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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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["FLJ13479"],"biotype":"protein_coding","hgnc_id":"HGNC:25821","gene_name":"zinc finger protein 668","omim_gene":["617103"],"alias_name":null,"gene_symbol":"ZNF668","hgnc_symbol":"ZNF668","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31072164-31085641","ensembl_id":"ENSG00000167394"}},"GRch38":{"90":{"location":"16:31060843-31074320","ensembl_id":"ENSG00000167394"}}},"hgnc_date_symbol_changed":"2005-03-18"},"entity_type":"gene","entity_name":"ZNF668","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34313816","26633546"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, MIM# 620194"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["HK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6318","gene_name":"kinesin family member 2A","omim_gene":["602591"],"alias_name":null,"gene_symbol":"KIF2A","hgnc_symbol":"KIF2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:61601989-61833076","ensembl_id":"ENSG00000068796"}},"GRch38":{"90":{"location":"5:62306162-62537249","ensembl_id":"ENSG00000068796"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"KIF2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23603762","27896282","27747449","29077851","31919497"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cortical dysplasia, complex, with other brain malformations 3, MIM# 615411"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["WINS1","LINS"],"biotype":"protein_coding","hgnc_id":"HGNC:30922","gene_name":"lines homolog 1","omim_gene":["610350"],"alias_name":["lines homolog (Drosophila)","lines homolog 1 (Drosophila)"],"gene_symbol":"LINS1","hgnc_symbol":"LINS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101099574-101143435","ensembl_id":"ENSG00000140471"}},"GRch38":{"90":{"location":"15:100559369-100603230","ensembl_id":"ENSG00000140471"}}},"hgnc_date_symbol_changed":"2015-08-18"},"entity_type":"gene","entity_name":"LINS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32802957","34450347","32499722","31922598","28181389"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 27, MIM# 614340"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["hsa-mir-2861"],"biotype":null,"hgnc_id":"HGNC:38221","gene_name":"microRNA 2861","omim_gene":["613405"],"alias_name":null,"gene_symbol":"MIR2861","hgnc_symbol":"MIR2861","hgnc_release":"2017-11-03","ensembl_genes":{},"hgnc_date_symbol_changed":"2010-04-30"},"entity_type":"gene","entity_name":"MIR2861","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["19920351"],"evidence":["Literature"],"phenotypes":["osteoporosis MONDO:0005298"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["myr2"],"biotype":"protein_coding","hgnc_id":"HGNC:7597","gene_name":"myosin IC","omim_gene":["606538"],"alias_name":null,"gene_symbol":"MYO1C","hgnc_symbol":"MYO1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1367392-1396106","ensembl_id":"ENSG00000197879"}},"GRch38":{"90":{"location":"17:1464098-1492812","ensembl_id":"ENSG00000197879"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO1C","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen","ClinGen"],"phenotypes":["Nonsyndromic genetic hearing loss, MONDO:0019497"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["RNF45","gp78"],"biotype":"protein_coding","hgnc_id":"HGNC:463","gene_name":"autocrine motility factor receptor","omim_gene":["603243"],"alias_name":null,"gene_symbol":"AMFR","hgnc_symbol":"AMFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:56395364-56459450","ensembl_id":"ENSG00000159461"}},"GRch38":{"90":{"location":"16:56361452-56425538","ensembl_id":"ENSG00000159461"}}},"hgnc_date_symbol_changed":"1994-01-10"},"entity_type":"gene","entity_name":"AMFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37119330","38277122"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spastic paraplegia 89, autosomal recessive, MIM# 620379","Inborn error of immunity, MONDO:0003778, AMFR-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["CRG-L2","CLOM","colmedin","UNC-112"],"biotype":"protein_coding","hgnc_id":"HGNC:29514","gene_name":"gliomedin","omim_gene":["608603"],"alias_name":null,"gene_symbol":"GLDN","hgnc_symbol":"GLDN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51633826-51700210","ensembl_id":"ENSG00000186417"}},"GRch38":{"90":{"location":"15:51341629-51408013","ensembl_id":"ENSG00000186417"}}},"hgnc_date_symbol_changed":"2005-10-06"},"entity_type":"gene","entity_name":"GLDN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27616481","32812332","28726266"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Lethal congenital contracture syndrome 11, MIM#\t617194","MONDO:0014965"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":139,"hash_id":null,"name":"Multiple pterygium syndrome_Fetal akinesia sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:\r\n-fetal akinesia deformation sequence (FADS);\r\n-multiple pterygium syndromes;\r\n-lethal congenital contractures syndromes.\r\n\r\nPlease also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.","status":"public","version":"1.11","version_created":"2026-02-25T14:53:33.284450+11:00","relevant_disorders":["Pterygium","HP:0001059; Akinesia","HP:0002304; Fetal akinesia sequence","HP:0001989"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BAP-1","BAP1","DING","HIPI3","RING1B","RING2"],"biotype":"protein_coding","hgnc_id":"HGNC:10061","gene_name":"ring finger protein 2","omim_gene":["608985"],"alias_name":null,"gene_symbol":"RNF2","hgnc_symbol":"RNF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:185014496-185071740","ensembl_id":"ENSG00000121481"}},"GRch38":{"90":{"location":"1:185045364-185102608","ensembl_id":"ENSG00000121481"}}},"hgnc_date_symbol_changed":"1997-06-09"},"entity_type":"gene","entity_name":"RNF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33864376","40831499"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Lou-Schoch-Yamamoto syndrome , MIM#619460","epilepsy","intellectual disability","intrauterine growth retardation"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["RP11-519K18.1","KIAA1224","FLJ13541","hZIMP10","Zimp10","MIZ"],"biotype":"protein_coding","hgnc_id":"HGNC:16493","gene_name":"zinc finger MIZ-type containing 1","omim_gene":["607159"],"alias_name":null,"gene_symbol":"ZMIZ1","hgnc_symbol":"ZMIZ1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:80828792-81076276","ensembl_id":"ENSG00000108175"}},"GRch38":{"90":{"location":"10:79069035-79316528","ensembl_id":"ENSG00000108175"}}},"hgnc_date_symbol_changed":"2006-10-24"},"entity_type":"gene","entity_name":"ZMIZ1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30639322"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies MIM#618659"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["PPP1R170"],"biotype":"protein_coding","hgnc_id":"HGNC:12852","gene_name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma","omim_gene":["605356"],"alias_name":["14-3-3 gamma","protein phosphatase 1, regulatory subunit 170"],"gene_symbol":"YWHAG","hgnc_symbol":"YWHAG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75956116-75988348","ensembl_id":"ENSG00000170027"}},"GRch38":{"90":{"location":"7:76326794-76359031","ensembl_id":"ENSG00000170027"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"YWHAG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33393734","33590706","31926053","33767733"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Developmental and epileptic encephalopathy 56, (MIMI#617665)"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4624","gene_name":"glutathione synthetase","omim_gene":["601002"],"alias_name":null,"gene_symbol":"GSS","hgnc_symbol":"GSS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:33516236-33543620","ensembl_id":"ENSG00000100983"}},"GRch38":{"90":{"location":"20:34928430-34955817","ensembl_id":"ENSG00000100983"}}},"hgnc_date_symbol_changed":"1991-05-01"},"entity_type":"gene","entity_name":"GSS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NHS GMS","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Glutathione synthetase deficiency, MIM# 266130"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1960","gene_name":"cholinergic receptor nicotinic alpha 7 subunit","omim_gene":["118511"],"alias_name":["acetylcholine receptor, nicotinic, alpha 7 (neuronal)"],"gene_symbol":"CHRNA7","hgnc_symbol":"CHRNA7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:32322691-32464722","ensembl_id":"ENSG00000175344"}},"GRch38":{"90":{"location":"15:31923438-32173018","ensembl_id":"ENSG00000175344"}}},"hgnc_date_symbol_changed":"1993-05-25"},"entity_type":"gene","entity_name":"CHRNA7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["20979196","21596161","21290787"],"evidence":["Expert Review Red","Literature"],"phenotypes":["intellectual disability","seizures","hypotonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["refuted","cnv"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["PCB"],"biotype":"protein_coding","hgnc_id":"HGNC:8636","gene_name":"pyruvate carboxylase","omim_gene":["608786"],"alias_name":null,"gene_symbol":"PC","hgnc_symbol":"PC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66615704-66725847","ensembl_id":"ENSG00000173599"}},"GRch38":{"90":{"location":"11:66848233-66958376","ensembl_id":"ENSG00000173599"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"PC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pyruvate carboxylase deficiency, MIM#\t266150"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IBMPFD","p97","CDC48","TERA"],"biotype":"protein_coding","hgnc_id":"HGNC:12666","gene_name":"valosin containing protein","omim_gene":["601023"],"alias_name":["transitional endoplasmic reticulum ATPase"],"gene_symbol":"VCP","hgnc_symbol":"VCP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35056061-35073246","ensembl_id":"ENSG00000165280"}},"GRch38":{"90":{"location":"9:35056064-35073249","ensembl_id":"ENSG00000165280"}}},"hgnc_date_symbol_changed":"1996-08-22"},"entity_type":"gene","entity_name":"VCP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29884839","35273561","37678339","15034582","30103325","21145000"],"evidence":["Expert Review Green"],"phenotypes":["inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507","Disorders of mitochondrial protein quality control"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24316","gene_name":"translational activator of cytochrome c oxidase I","omim_gene":["612958"],"alias_name":null,"gene_symbol":"TACO1","hgnc_symbol":"TACO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:61678231-61685725","ensembl_id":"ENSG00000136463"}},"GRch38":{"90":{"location":"17:63600872-63608365","ensembl_id":"ENSG00000136463"}}},"hgnc_date_symbol_changed":"2009-06-26"},"entity_type":"gene","entity_name":"TACO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19503089","20727754","25044680","27319982"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 8, MIM#\t619052"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC52110","FLJ27524","Pet191"],"biotype":"protein_coding","hgnc_id":"HGNC:33848","gene_name":"cytochrome c oxidase assembly factor 5","omim_gene":["613920"],"alias_name":null,"gene_symbol":"COA5","hgnc_symbol":"COA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:99215773-99224978","ensembl_id":"ENSG00000183513"}},"GRch38":{"90":{"location":"2:98599310-98608515","ensembl_id":"ENSG00000183513"}}},"hgnc_date_symbol_changed":"2011-07-19"},"entity_type":"gene","entity_name":"COA5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21457908","36641477"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7758","gene_name":"neuraminidase 1","omim_gene":["608272"],"alias_name":null,"gene_symbol":"NEU1","hgnc_symbol":"NEU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31825436-31830683","ensembl_id":"ENSG00000204386"}},"GRch38":{"90":{"location":"6:31857659-31862906","ensembl_id":"ENSG00000204386"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0929","MINT","SHARP","RBM15C"],"biotype":"protein_coding","hgnc_id":"HGNC:17575","gene_name":"spen family transcriptional repressor","omim_gene":["613484"],"alias_name":null,"gene_symbol":"SPEN","hgnc_symbol":"SPEN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:16174359-16266955","ensembl_id":"ENSG00000065526"}},"GRch38":{"90":{"location":"1:15847864-15940460","ensembl_id":"ENSG00000065526"}}},"hgnc_date_symbol_changed":"2004-12-13"},"entity_type":"gene","entity_name":"SPEN","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33596411"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Radio-Tartaglia syndrome MIM#619312"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv1.5","HK2","HPCN1"],"biotype":"protein_coding","hgnc_id":"HGNC:6224","gene_name":"potassium voltage-gated channel subfamily A member 5","omim_gene":["176267"],"alias_name":null,"gene_symbol":"KCNA5","hgnc_symbol":"KCNA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:5153085-5155949","ensembl_id":"ENSG00000130037"}},"GRch38":{"90":{"location":"12:5043989-5046788","ensembl_id":"ENSG00000130037"}}},"hgnc_date_symbol_changed":"1991-08-13"},"entity_type":"gene","entity_name":"KCNA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16772329","19343045","23264583"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Atrial fibrillation, familial, 7, MIM# 612240"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":210,"hash_id":null,"name":"Atrial Fibrillation","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"1.8","version_created":"2026-04-08T12:33:56.834813+10:00","relevant_disorders":["Atrial fibrillation","HP:0005110"],"stats":{"number_of_genes":8,"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":["KIAA0243","LAM","hamartin"],"biotype":"protein_coding","hgnc_id":"HGNC:12362","gene_name":"TSC complex subunit 1","omim_gene":["605284"],"alias_name":["hamartin"],"gene_symbol":"TSC1","hgnc_symbol":"TSC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135766735-135820020","ensembl_id":"ENSG00000165699"}},"GRch38":{"90":{"location":"9:132891348-132944633","ensembl_id":"ENSG00000165699"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TSC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Tuberous sclerosis-1, MIM# 191100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9986","gene_name":"regulatory factor X5","omim_gene":["601863"],"alias_name":null,"gene_symbol":"RFX5","hgnc_symbol":"RFX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:151313116-151319833","ensembl_id":"ENSG00000143390"}},"GRch38":{"90":{"location":"1:151340640-151347357","ensembl_id":"ENSG00000143390"}}},"hgnc_date_symbol_changed":"1997-07-11"},"entity_type":"gene","entity_name":"RFX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9401005","29527204","30170160","7990905","8642248","7699327"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group C MIM# 209920","Bare lymphocyte syndrome, type II, complementation group E MIM# 209920"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FasL","CD178"],"biotype":"protein_coding","hgnc_id":"HGNC:11936","gene_name":"Fas ligand","omim_gene":["134638"],"alias_name":null,"gene_symbol":"FASLG","hgnc_symbol":"FASLG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:172628154-172636014","ensembl_id":"ENSG00000117560"}},"GRch38":{"90":{"location":"1:172659018-172666874","ensembl_id":"ENSG00000117560"}}},"hgnc_date_symbol_changed":"2005-01-07"},"entity_type":"gene","entity_name":"FASLG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16627752","17605793","19794494","8787672","22857792","33356695","26334989","25451160"],"evidence":["Expert Review Green","Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["autoimmune lymphoproliferative syndrome MONDO:0017979"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WASP","WASPA"],"biotype":"protein_coding","hgnc_id":"HGNC:12731","gene_name":"Wiskott-Aldrich syndrome","omim_gene":["300392"],"alias_name":["eczema-thrombocytopenia"],"gene_symbol":"WAS","hgnc_symbol":"WAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:48534985-48549818","ensembl_id":"ENSG00000015285"}},"GRch38":{"90":{"location":"X:48676596-48691427","ensembl_id":"ENSG00000015285"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"WAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11242115","16804117","19006568"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Neutropaenia, severe congenital, X-linked, MIM# 300299"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":233,"hash_id":null,"name":"Phagocyte Defects","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with abnormalities in phagocyte number, function or both. Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMK","PMKA","HUMPMKI"],"biotype":"protein_coding","hgnc_id":"HGNC:9141","gene_name":"phosphomevalonate kinase","omim_gene":["607622"],"alias_name":null,"gene_symbol":"PMVK","hgnc_symbol":"PMVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154897210-154909467","ensembl_id":"ENSG00000163344"}},"GRch38":{"90":{"location":"1:154924734-154936991","ensembl_id":"ENSG00000163344"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"PMVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37364720","36410683"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Autoinflammatory syndrome, MONDO:0019751, PMVK-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SEC84","EXO84","Exo84p"],"biotype":"protein_coding","hgnc_id":"HGNC:24659","gene_name":"exocyst complex component 8","omim_gene":["615283"],"alias_name":null,"gene_symbol":"EXOC8","hgnc_symbol":"EXOC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:231468480-231473598","ensembl_id":"ENSG00000116903"}},"GRch38":{"90":{"location":"1:231332753-231337852","ensembl_id":"ENSG00000116903"}}},"hgnc_date_symbol_changed":"2004-01-09"},"entity_type":"gene","entity_name":"EXOC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32103185","22700954","36344539","35460391"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["neurodevelopmental disorder with microcephaly, seizures, and brain atrophy MONDO:0033662"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6481","gene_name":"laminin subunit alpha 1","omim_gene":["150320"],"alias_name":null,"gene_symbol":"LAMA1","hgnc_symbol":"LAMA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:6941743-7117813","ensembl_id":"ENSG00000101680"}},"GRch38":{"90":{"location":"18:6941744-7117814","ensembl_id":"ENSG00000101680"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"LAMA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24013853"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hnRNP-R"],"biotype":"protein_coding","hgnc_id":"HGNC:5047","gene_name":"heterogeneous nuclear ribonucleoprotein R","omim_gene":["607201"],"alias_name":null,"gene_symbol":"HNRNPR","hgnc_symbol":"HNRNPR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:23630264-23670829","ensembl_id":"ENSG00000125944"}},"GRch38":{"90":{"location":"1:23303771-23344336","ensembl_id":"ENSG00000125944"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"HNRNPR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31079900"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, MIM# 620073"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CKI"],"biotype":"protein_coding","hgnc_id":"HGNC:1937","gene_name":"choline kinase alpha","omim_gene":["118491"],"alias_name":null,"gene_symbol":"CHKA","hgnc_symbol":"CHKA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67820326-67888911","ensembl_id":"ENSG00000110721"}},"GRch38":{"90":{"location":"11:68052859-68121444","ensembl_id":"ENSG00000110721"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"CHKA","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["35202461"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures, MIM#620023"],"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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2978","gene_name":"DNA methyltransferase 3 alpha","omim_gene":["602769"],"alias_name":null,"gene_symbol":"DNMT3A","hgnc_symbol":"DNMT3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25455845-25565459","ensembl_id":"ENSG00000119772"}},"GRch38":{"90":{"location":"2:25227855-25342590","ensembl_id":"ENSG00000119772"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24614070"],"evidence":["Expert Review Green","Expert Review Green","Expert list","NHS GMS"],"phenotypes":["Heyn-Sproul-Jackson syndrome, MIM# 618724"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:2217","gene_name":"collagen type IX alpha 1 chain","omim_gene":["120210"],"alias_name":null,"gene_symbol":"COL9A1","hgnc_symbol":"COL9A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:70924764-71012786","ensembl_id":"ENSG00000112280"}},"GRch38":{"90":{"location":"6:70215061-70303083","ensembl_id":"ENSG00000112280"}}},"hgnc_date_symbol_changed":"1989-05-08"},"entity_type":"gene","entity_name":"COL9A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Illumina TruGenome Clinical Sequencing Services","Expert","Radboud University Medical Center, Nijmegen","Expert Review Green","NHS GMS","Emory Genetics Laboratory"],"phenotypes":["Stickler syndrome, type IV 614134","Epiphyseal dysplasia, multiple, 6 614135"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 10"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"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":["KIAA1564","DUPLIN"],"biotype":"protein_coding","hgnc_id":"HGNC:20153","gene_name":"chromodomain helicase DNA binding protein 8","omim_gene":["610528"],"alias_name":null,"gene_symbol":"CHD8","hgnc_symbol":"CHD8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:21853353-21924285","ensembl_id":"ENSG00000100888"}},"GRch38":{"90":{"location":"14:21385194-21456126","ensembl_id":"ENSG00000100888"}}},"hgnc_date_symbol_changed":"2004-06-23"},"entity_type":"gene","entity_name":"CHD8","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34415117"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, CHD8-related, MIM#615032","Dystonia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["FLJ14917"],"biotype":"protein_coding","hgnc_id":"HGNC:21061","gene_name":"serine active site containing 1","omim_gene":["614725"],"alias_name":null,"gene_symbol":"SERAC1","hgnc_symbol":"SERAC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158530536-158589312","ensembl_id":"ENSG00000122335"}},"GRch38":{"90":{"location":"6:158109515-158168270","ensembl_id":"ENSG00000122335"}}},"hgnc_date_symbol_changed":"2003-05-12"},"entity_type":"gene","entity_name":"SERAC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739","Lesions in the basal ganglia"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:4982","gene_name":"hydroxymethylbilane synthase","omim_gene":["609806"],"alias_name":null,"gene_symbol":"HMBS","hgnc_symbol":"HMBS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118955576-118964259","ensembl_id":"ENSG00000256269"}},"GRch38":{"90":{"location":"11:119084866-119093549","ensembl_id":"ENSG00000256269"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"HMBS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27558376","34089223"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Leukoencephalopathy, porphyria-related, MIM# 620711"],"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":[]},{"gene_data":{"alias":["MLC","KIAA0027","LVM","VL"],"biotype":"protein_coding","hgnc_id":"HGNC:17082","gene_name":"megalencephalic leukoencephalopathy with subcortical cysts 1","omim_gene":["605908"],"alias_name":null,"gene_symbol":"MLC1","hgnc_symbol":"MLC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:50497820-50524331","ensembl_id":"ENSG00000100427"}},"GRch38":{"90":{"location":"22:50059391-50085902","ensembl_id":"ENSG00000100427"}}},"hgnc_date_symbol_changed":"2002-04-30"},"entity_type":"gene","entity_name":"MLC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["11254442","21419380","21624973"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts, MIM#\t604004"],"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":[]},{"gene_data":{"alias":["CLA20","AP47B","SPG52"],"biotype":"protein_coding","hgnc_id":"HGNC:575","gene_name":"adaptor related protein complex 4 sigma 1 subunit","omim_gene":["607243"],"alias_name":null,"gene_symbol":"AP4S1","hgnc_symbol":"AP4S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:31494312-31562818","ensembl_id":"ENSG00000100478"}},"GRch38":{"90":{"location":"14:31025106-31096450","ensembl_id":"ENSG00000100478"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21620353","25552650","32979048","32216065","31915823","30283821","27444738"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["developmental delay","Spastic paraplegia 52, autosomal recessive, 614067","seizures"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LDE","LD"],"biotype":"protein_coding","hgnc_id":"HGNC:3413","gene_name":"EPM2A, laforin glucan phosphatase","omim_gene":["607566"],"alias_name":null,"gene_symbol":"EPM2A","hgnc_symbol":"EPM2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:145822719-146057160","ensembl_id":"ENSG00000112425"}},"GRch38":{"90":{"location":"6:145382535-145736023","ensembl_id":"ENSG00000112425"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"EPM2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["40442642","35257260","27574708","40442642","36211619"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Epilepsy, progressive myoclonic 2A (Lafora) 254780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["T1"],"biotype":"protein_coding","hgnc_id":"HGNC:10990","gene_name":"solute carrier family 25 member 4","omim_gene":["103220"],"alias_name":null,"gene_symbol":"SLC25A4","hgnc_symbol":"SLC25A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186064395-186071536","ensembl_id":"ENSG00000151729"}},"GRch38":{"90":{"location":"4:185143241-185150382","ensembl_id":"ENSG00000151729"}}},"hgnc_date_symbol_changed":"1989-05-19"},"entity_type":"gene","entity_name":"SLC25A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28823815"],"evidence":["Expert Review Green","Expert Review","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"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":["ORF20","TTDN1"],"biotype":"protein_coding","hgnc_id":"HGNC:16002","gene_name":"M-phase specific PLK1 interacting protein","omim_gene":["609188"],"alias_name":null,"gene_symbol":"MPLKIP","hgnc_symbol":"MPLKIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:40165622-40174258","ensembl_id":"ENSG00000168303"}},"GRch38":{"90":{"location":"7:40126023-40134659","ensembl_id":"ENSG00000168303"}}},"hgnc_date_symbol_changed":"2012-03-01"},"entity_type":"gene","entity_name":"MPLKIP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Trichothiodystrophy 4, nonphotosensitive"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"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":["MIRK"],"biotype":"protein_coding","hgnc_id":"HGNC:3092","gene_name":"dual specificity tyrosine phosphorylation regulated kinase 1B","omim_gene":["604556"],"alias_name":["minibrain-related kinase"],"gene_symbol":"DYRK1B","hgnc_symbol":"DYRK1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:40315990-40324841","ensembl_id":"ENSG00000105204"}},"GRch38":{"90":{"location":"19:39825350-39834201","ensembl_id":"ENSG00000105204"}}},"hgnc_date_symbol_changed":"1999-01-29"},"entity_type":"gene","entity_name":"DYRK1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34193236","34786696","24827035","28743892"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes)","Abdominal obesity-metabolic syndrome 3, 615812"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RECQL2","RECQ3"],"biotype":"protein_coding","hgnc_id":"HGNC:12791","gene_name":"Werner syndrome RecQ like helicase","omim_gene":["604611"],"alias_name":null,"gene_symbol":"WRN","hgnc_symbol":"WRN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:30891317-31031285","ensembl_id":"ENSG00000165392"}},"GRch38":{"90":{"location":"8:31033801-31173769","ensembl_id":"ENSG00000165392"}}},"hgnc_date_symbol_changed":"1991-08-21"},"entity_type":"gene","entity_name":"WRN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28476236","8602509","8968742","9012406","20301687"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Werner syndrome, MIM# 277700","MONDO:0010196"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SPG49"],"biotype":"protein_coding","hgnc_id":"HGNC:20582","gene_name":"cytochrome P450 family 2 subfamily U member 1","omim_gene":["610670"],"alias_name":["spastic paraplegia 49"],"gene_symbol":"CYP2U1","hgnc_symbol":"CYP2U1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108852525-108874613","ensembl_id":"ENSG00000155016"}},"GRch38":{"90":{"location":"4:107931369-107953457","ensembl_id":"ENSG00000155016"}}},"hgnc_date_symbol_changed":"2004-03-11"},"entity_type":"gene","entity_name":"CYP2U1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spastic paraplegia 56, autosomal recessive, 615030 (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 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Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D22S674"],"biotype":"protein_coding","hgnc_id":"HGNC:7631","gene_name":"alpha-N-acetylgalactosaminidase","omim_gene":["104170"],"alias_name":null,"gene_symbol":"NAGA","hgnc_symbol":"NAGA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:42454358-42466846","ensembl_id":"ENSG00000198951"}},"GRch38":{"90":{"location":"22:42058354-42070842","ensembl_id":"ENSG00000198951"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NAGA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Schindler disease, type I, 609241 (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. 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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":["KIAA0683","hCLK2","TEL2"],"biotype":"protein_coding","hgnc_id":"HGNC:29099","gene_name":"telomere maintenance 2","omim_gene":["611140"],"alias_name":null,"gene_symbol":"TELO2","hgnc_symbol":"TELO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1543345-1560458","ensembl_id":"ENSG00000100726"}},"GRch38":{"90":{"location":"16:1493344-1510457","ensembl_id":"ENSG00000100726"}}},"hgnc_date_symbol_changed":"2006-09-25"},"entity_type":"gene","entity_name":"TELO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["YHFS","YOU-HOOVER-FONG SYNDROME"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8522","gene_name":"orthodenticle homeobox 2","omim_gene":["600037"],"alias_name":null,"gene_symbol":"OTX2","hgnc_symbol":"OTX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:57267425-57277197","ensembl_id":"ENSG00000165588"}},"GRch38":{"90":{"location":"14:56799905-56810479","ensembl_id":"ENSG00000165588"}}},"hgnc_date_symbol_changed":"1994-02-08"},"entity_type":"gene","entity_name":"OTX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18628516","26416826","18728160","35320640","33950863"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 6, MIM# 613986"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["TIRC7","OC-116","OC116","ATP6N1C","Atp6i","a3","ATP6V0A3"],"biotype":"protein_coding","hgnc_id":"HGNC:11647","gene_name":"T-cell immune regulator 1, ATPase H+ transporting V0 subunit a3","omim_gene":["604592"],"alias_name":["T-cell immune response cDNA 7"],"gene_symbol":"TCIRG1","hgnc_symbol":"TCIRG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67806483-67818362","ensembl_id":"ENSG00000110719"}},"GRch38":{"90":{"location":"11:68039016-68050895","ensembl_id":"ENSG00000110719"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"TCIRG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Osteopetrosis, infantile malignant 259700"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SRA1"],"biotype":"protein_coding","hgnc_id":"HGNC:11204","gene_name":"SRY-box 9","omim_gene":["608160"],"alias_name":null,"gene_symbol":"SOX9","hgnc_symbol":"SOX9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:70117161-70122561","ensembl_id":"ENSG00000125398"}},"GRch38":{"90":{"location":"17:72121020-72126420","ensembl_id":"ENSG00000125398"}}},"hgnc_date_symbol_changed":"1992-09-25"},"entity_type":"gene","entity_name":"SOX9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30712880","28425981","9002675"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Campomelic dysplasia with autosomal sex reversal (MIM#114290)","Campomelic dysplasia (MIM#114290)","Acampomelic campomelic dysplasia (MIM#114290)"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GroEL","HSP60"],"biotype":"protein_coding","hgnc_id":"HGNC:5261","gene_name":"heat shock protein family D (Hsp60) member 1","omim_gene":["118190"],"alias_name":null,"gene_symbol":"HSPD1","hgnc_symbol":"HSPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:198351305-198381461","ensembl_id":"ENSG00000144381"}},"GRch38":{"90":{"location":"2:197486581-197516737","ensembl_id":"ENSG00000144381"}}},"hgnc_date_symbol_changed":"1991-07-19"},"entity_type":"gene","entity_name":"HSPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18571143","27405012","32532876","28377887","27405012"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Leukodystrophy, hypomyelinating, 4, MIM# 612233"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMT2N","AlaRS"],"biotype":"protein_coding","hgnc_id":"HGNC:20","gene_name":"alanyl-tRNA synthetase","omim_gene":["601065"],"alias_name":["alanine tRNA ligase 1, cytoplasmic"],"gene_symbol":"AARS","hgnc_symbol":"AARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:70286198-70323446","ensembl_id":"ENSG00000090861"}},"GRch38":{"90":{"location":"16:70252295-70289543","ensembl_id":"ENSG00000090861"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"AARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28493438","25817015"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Developmental and epileptic encephalopathy 29, OMIM:616339","Developmental and epileptic encephalopathy, 29, MONDO:0014593"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2411","gene_name":"crystallin gamma D","omim_gene":["123690"],"alias_name":null,"gene_symbol":"CRYGD","hgnc_symbol":"CRYGD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:208986331-208989225","ensembl_id":"ENSG00000118231"}},"GRch38":{"90":{"location":"2:208121607-208124501","ensembl_id":"ENSG00000118231"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CRYGD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9927684","10915766","12676897","17724170"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Cataract 4, multiple types, MIM# 115700"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCP2","Spc97p","SPBC97"],"biotype":"protein_coding","hgnc_id":"HGNC:18599","gene_name":"tubulin gamma complex associated protein 2","omim_gene":null,"alias_name":null,"gene_symbol":"TUBGCP2","hgnc_symbol":"TUBGCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:135093135-135125841","ensembl_id":"ENSG00000130640"}},"GRch38":{"90":{"location":"10:133278630-133312337","ensembl_id":"ENSG00000130640"}}},"hgnc_date_symbol_changed":"2002-08-14"},"entity_type":"gene","entity_name":"TUBGCP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31630790"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM #\t618737"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18603","gene_name":"collagen type XXV alpha 1 chain","omim_gene":["610004"],"alias_name":null,"gene_symbol":"COL25A1","hgnc_symbol":"COL25A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:109731877-110223813","ensembl_id":"ENSG00000188517"}},"GRch38":{"90":{"location":"4:108810721-109302657","ensembl_id":"ENSG00000188517"}}},"hgnc_date_symbol_changed":"2003-04-10"},"entity_type":"gene","entity_name":"COL25A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["35077597","26437029"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Arthrogryposis multiplex congenita MONDO:0015168"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA1094","DK1"],"biotype":"protein_coding","hgnc_id":"HGNC:23406","gene_name":"dolichol kinase","omim_gene":["610746"],"alias_name":["dolichol kinase 1"],"gene_symbol":"DOLK","hgnc_symbol":"DOLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131707809-131709898","ensembl_id":"ENSG00000175283"}},"GRch38":{"90":{"location":"9:128945530-128947619","ensembl_id":"ENSG00000175283"}}},"hgnc_date_symbol_changed":"2007-02-09"},"entity_type":"gene","entity_name":"DOLK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["17273964","22242004","23890587","30653653","28816422","24144945"],"evidence":["Expert Review Amber","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["DK1-CDG, MONDO:0012556","Congenital disorder of glycosylation, type Im, MIM# 610768"],"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":"1.559","version_created":"2026-04-21T11:27:49.150143+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1074"],"biotype":"protein_coding","hgnc_id":"HGNC:29186","gene_name":"ankyrin repeat domain 26","omim_gene":["610855"],"alias_name":null,"gene_symbol":"ANKRD26","hgnc_symbol":"ANKRD26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:27280843-27389421","ensembl_id":"ENSG00000107890"}},"GRch38":{"90":{"location":"10:26991914-27100498","ensembl_id":"ENSG00000107890"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"ANKRD26","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombocytopaenia 2, MIM# 188000"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dJ20C7.5"],"biotype":"protein_coding","hgnc_id":"HGNC:21024","gene_name":"cullin 7","omim_gene":["609577"],"alias_name":null,"gene_symbol":"CUL7","hgnc_symbol":"CUL7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43005355-43021683","ensembl_id":"ENSG00000044090"}},"GRch38":{"90":{"location":"6:43037617-43053945","ensembl_id":"ENSG00000044090"}}},"hgnc_date_symbol_changed":"2004-03-22"},"entity_type":"gene","entity_name":"CUL7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16142236","19225462","17675530"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["3-M syndrome 1, MIM#273750"],"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":["2E4"],"biotype":"protein_coding","hgnc_id":"HGNC:6404","gene_name":"kaptin, actin binding protein","omim_gene":["615620"],"alias_name":null,"gene_symbol":"KPTN","hgnc_symbol":"KPTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47978401-47987525","ensembl_id":"ENSG00000118162"}},"GRch38":{"90":{"location":"19:47475144-47484268","ensembl_id":"ENSG00000118162"}}},"hgnc_date_symbol_changed":"1999-08-27"},"entity_type":"gene","entity_name":"KPTN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24239382","32358097","32808430"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)"],"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":["CILD9","DIC2"],"biotype":"protein_coding","hgnc_id":"HGNC:18744","gene_name":"dynein axonemal intermediate chain 2","omim_gene":["605483"],"alias_name":["dynein intermediate chain 2"],"gene_symbol":"DNAI2","hgnc_symbol":"DNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72270386-72311023","ensembl_id":"ENSG00000171595"}},"GRch38":{"90":{"location":"17:74274247-74314884","ensembl_id":"ENSG00000171595"}}},"hgnc_date_symbol_changed":"2002-06-12"},"entity_type":"gene","entity_name":"DNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18950741"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444"],"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":["TIMM14","Tim14","Pam18"],"biotype":"protein_coding","hgnc_id":"HGNC:30528","gene_name":"DnaJ heat shock protein family (Hsp40) member C19","omim_gene":["608977"],"alias_name":null,"gene_symbol":"DNAJC19","hgnc_symbol":"DNAJC19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180701497-180707562","ensembl_id":"ENSG00000205981"}},"GRch38":{"90":{"location":"3:180983709-180989774","ensembl_id":"ENSG00000205981"}}},"hgnc_date_symbol_changed":"2005-07-28"},"entity_type":"gene","entity_name":"DNAJC19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152456","16055927","17244376","22797137"],"evidence":["Expert Review Green","Literature"],"phenotypes":["3-methylglutaconic aciduria type 5 MONDO:0012435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32456656","20301681"],"evidence":["Expert Review Green","BabySeq Category B gene","BeginNGS"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910","Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCS"],"biotype":"protein_coding","hgnc_id":"HGNC:4311","gene_name":"glutamate-cysteine ligase catalytic subunit","omim_gene":["606857"],"alias_name":null,"gene_symbol":"GCLC","hgnc_symbol":"GCLC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:53362139-53481768","ensembl_id":"ENSG00000001084"}},"GRch38":{"90":{"location":"6:53497341-53616970","ensembl_id":"ENSG00000001084"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"GCLC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11990","gene_name":"DNA topoisomerase II beta","omim_gene":["126431"],"alias_name":null,"gene_symbol":"TOP2B","hgnc_symbol":"TOP2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:25639475-25706398","ensembl_id":"ENSG00000077097"}},"GRch38":{"90":{"location":"3:25597905-25664907","ensembl_id":"ENSG00000077097"}}},"hgnc_date_symbol_changed":"1992-03-20"},"entity_type":"gene","entity_name":"TOP2B","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["DFNA40"],"biotype":"protein_coding","hgnc_id":"HGNC:2418","gene_name":"crystallin mu","omim_gene":["123740"],"alias_name":["thiomorpholine-carboxylate dehydrogenase"],"gene_symbol":"CRYM","hgnc_symbol":"CRYM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:21250195-21314404","ensembl_id":"ENSG00000103316"}},"GRch38":{"90":{"location":"16:21238874-21303083","ensembl_id":"ENSG00000103316"}}},"hgnc_date_symbol_changed":"1992-11-26"},"entity_type":"gene","entity_name":"CRYM","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 12471561, 32742378"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Deafness, autosomal dominant 40\tMIM#616357"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["GABAT"],"biotype":"protein_coding","hgnc_id":"HGNC:23","gene_name":"4-aminobutyrate aminotransferase","omim_gene":["137150"],"alias_name":["4-aminobutyrate transaminase"],"gene_symbol":"ABAT","hgnc_symbol":"ABAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:8768422-8878432","ensembl_id":"ENSG00000183044"}},"GRch38":{"90":{"location":"16:8674565-8784575","ensembl_id":"ENSG00000183044"}}},"hgnc_date_symbol_changed":"1996-03-13"},"entity_type":"gene","entity_name":"ABAT","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["GABA-transaminase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MYBP-C","FHC"],"biotype":"protein_coding","hgnc_id":"HGNC:7551","gene_name":"myosin binding protein C, cardiac","omim_gene":["600958"],"alias_name":null,"gene_symbol":"MYBPC3","hgnc_symbol":"MYBPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47352957-47374253","ensembl_id":"ENSG00000134571"}},"GRch38":{"90":{"location":"11:47331397-47352702","ensembl_id":"ENSG00000134571"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"MYBPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30681346","20378854"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cardiomyopathy, dilated, 1MM, MIM# 615396","Left ventricular noncompaction 10, MIM# 615396","Cardiomyopathy, hypertrophic, 4, MIM# 115197"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":["FLJ20069","ORF1","JBTS3"],"biotype":"protein_coding","hgnc_id":"HGNC:21575","gene_name":"Abelson helper integration site 1","omim_gene":["608894"],"alias_name":["Jouberin"],"gene_symbol":"AHI1","hgnc_symbol":"AHI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:135604670-135818914","ensembl_id":"ENSG00000135541"}},"GRch38":{"90":{"location":"6:135283532-135497776","ensembl_id":"ENSG00000135541"}}},"hgnc_date_symbol_changed":"2003-08-22"},"entity_type":"gene","entity_name":"AHI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16155189","20301500","28442542"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 3 MIM#608629"],"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":["HI","PHHI","SUR1","MRP8","ABC36","HHF1","TNDM2"],"biotype":"protein_coding","hgnc_id":"HGNC:59","gene_name":"ATP binding cassette subfamily C member 8","omim_gene":["600509"],"alias_name":["sulfonylurea receptor (hyperinsulinemia)"],"gene_symbol":"ABCC8","hgnc_symbol":"ABCC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17414432-17498449","ensembl_id":"ENSG00000006071"}},"GRch38":{"90":{"location":"11:17392885-17476845","ensembl_id":"ENSG00000006071"}}},"hgnc_date_symbol_changed":"1995-01-10"},"entity_type":"gene","entity_name":"ABCC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)"],"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":["PTC","CDHF12","RET51","CDHR16"],"biotype":"protein_coding","hgnc_id":"HGNC:9967","gene_name":"ret proto-oncogene","omim_gene":["164761"],"alias_name":["cadherin-related family member 16","RET receptor tyrosine kinase","rearranged during transfection"],"gene_symbol":"RET","hgnc_symbol":"RET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:43572475-43625799","ensembl_id":"ENSG00000165731"}},"GRch38":{"90":{"location":"10:43077027-43130351","ensembl_id":"ENSG00000165731"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"RET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Thyroid cancer, MONDO:0002108","Medullary thyroid gland carcinoma, MONDO:0015277","Multiple endocrine neoplasia type 2A, MONDO:0008234","Multiple endocrine neoplasia type 2B, MONDO:0008082","Multiple endocrine neoplasia, type 2A, MIM#171400","Multiple endocrine neoplasia, type 2B, MIM#162300","Pheochromocytoma, MIM#171300","Medullary thyroid carcinoma, MIM#155240","Pheochromocytoma, susceptibility to, MIM#171300"],"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":["PTC","CDHF12","RET51","CDHR16"],"biotype":"protein_coding","hgnc_id":"HGNC:9967","gene_name":"ret proto-oncogene","omim_gene":["164761"],"alias_name":["cadherin-related family member 16","RET receptor tyrosine kinase","rearranged during transfection"],"gene_symbol":"RET","hgnc_symbol":"RET","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:43572475-43625799","ensembl_id":"ENSG00000165731"}},"GRch38":{"90":{"location":"10:43077027-43130351","ensembl_id":"ENSG00000165731"}}},"hgnc_date_symbol_changed":"1990-07-15"},"entity_type":"gene","entity_name":"RET","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Tumor of parathyroid gland, MONDO:0021360","Multiple endocrine neoplasia type 2A, MONDO:0008234","Multiple endocrine neoplasia type 2B, MONDO:0008082","Multiple endocrine neoplasia, type 2A, MIM#171400","Multiple endocrine neoplasia, type 2B, MIM#162300","Pheochromocytoma, MIM#171300","Medullary thyroid carcinoma, MIM#155240","Pheochromocytoma, susceptibility to, MIM#171300"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4363,"hash_id":null,"name":"Parathyroid Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with parathyroid tumour. \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 parathyroid tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\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":"1.2","version_created":"2024-11-01T16:33:54.194345+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":["KIAA0307","bHLHe1"],"biotype":"protein_coding","hgnc_id":"HGNC:16876","gene_name":"aryl hydrocarbon receptor nuclear translocator 2","omim_gene":["606036"],"alias_name":null,"gene_symbol":"ARNT2","hgnc_symbol":"ARNT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80696692-80890278","ensembl_id":"ENSG00000172379"}},"GRch38":{"90":{"location":"15:80404350-80597937","ensembl_id":"ENSG00000172379"}}},"hgnc_date_symbol_changed":"2001-12-05"},"entity_type":"gene","entity_name":"ARNT2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24022475, 11381139"],"evidence":["Expert Review Amber","Genetic Health Queensland","Genomics England PanelApp","Literature","Literature","Genetic Health Queensland"],"phenotypes":["Webb-Dattani syndrome 615926"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"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":["FLJ39378"],"biotype":"protein_coding","hgnc_id":"HGNC:26814","gene_name":"Rab interacting lysosomal protein like 1","omim_gene":["614092"],"alias_name":null,"gene_symbol":"RILPL1","hgnc_symbol":"RILPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:123955925-124018265","ensembl_id":"ENSG00000188026"}},"GRch38":{"90":{"location":"12:123470054-123533718","ensembl_id":"ENSG00000188026"}}},"hgnc_date_symbol_changed":"2007-11-27"},"entity_type":"str","entity_name":"RILPL1_OPDM4_CGG","confidence_level":"3","penetrance":null,"publications":["35148830"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oculopharyngodistal myopathy MONDO:0025193"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CGG","chromosome":"12","grch37_coordinates":[124018270,124018296],"grch38_coordinates":[123533723,123533749],"normal_repeats":16,"pathogenic_repeats":139,"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}