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It contains all the genes on the Peter MacCallum Bone Marrow Failure panel, as of 2/3/2020, and includes all the genes associated with telomere disorders (Dysterkeratosis Congenita).\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.","status":"public","version":"1.141","version_created":"2026-03-17T18:48:23.244194+11:00","relevant_disorders":["Abnormality of multiple cell lineages of the bone marrow","HP:0012145"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne 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Diagnostic yield ranged between 10-30% depending on presence of additional characteristics such as ID/epilepsy/ASD.\r\n\r\nThe aetiology of cerebral palsy is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia, Ataxia, Malformations of Cortical Development, Mitochondrial Disorders and the Bleeding and Platelet Disorders panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Jozef Gecz, Clare van Eyk, Luisa Weiss and team for their contribution to the development of this panel.","status":"public","version":"1.410","version_created":"2026-02-17T16:35:59.013988+11:00","relevant_disorders":["Cerebral palsy HP:0100021"],"stats":{"number_of_genes":364,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CSX1","NKX2.5","NKX4-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2488","gene_name":"NK2 homeobox 5","omim_gene":["600584"],"alias_name":["tinman paralog (Drosophila)"],"gene_symbol":"NKX2-5","hgnc_symbol":"NKX2-5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:172659112-172662360","ensembl_id":"ENSG00000183072"}},"GRch38":{"90":{"location":"5:173232109-173235357","ensembl_id":"ENSG00000183072"}}},"hgnc_date_symbol_changed":"2002-10-04"},"entity_type":"gene","entity_name":"NKX2-5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25742962","26805889"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ventricular septal defect 3 (MIM#614432)","Tetralogy of Fallot (MIM#187500)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PKACa"],"biotype":"protein_coding","hgnc_id":"HGNC:9380","gene_name":"protein kinase cAMP-activated catalytic subunit alpha","omim_gene":["601639"],"alias_name":null,"gene_symbol":"PRKACA","hgnc_symbol":"PRKACA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:14202500-14228896","ensembl_id":"ENSG00000072062"}},"GRch38":{"90":{"location":"19:14091688-14118084","ensembl_id":"ENSG00000072062"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRKACA","confidence_level":"3","penetrance":"unknown","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":["33058759","31130284"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardioacrofacial dysplasia 1, MIM# 619142","Postaxial hand polydactyly","Postaxial foot polydactyly","Common atrium","Atrioventricular canal defect","Narrow chest","Abnormality of the teeth","Intellectual disability"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HsT1705","FLJ12542"],"biotype":"protein_coding","hgnc_id":"HGNC:25727","gene_name":"centrosomal protein 76","omim_gene":null,"alias_name":null,"gene_symbol":"CEP76","hgnc_symbol":"CEP76","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:12661832-12702776","ensembl_id":"ENSG00000101624"}},"GRch38":{"90":{"location":"18:12661833-12702777","ensembl_id":"ENSG00000101624"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP76","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Other"],"phenotypes":["complex neurodevelopmental disorder MONDO:0100038","Joubert syndrome","Bardet-Biedl syndrome","retinitis pigmentosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":84,"hash_id":null,"name":"Ciliopathies","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was created by merging the Ciliopathy panels created by VCGS and RMH and is a consensus panel used by both.\r\n\r\nIt covers conditions caused by mutations in the genes encoding non-motile cilia components as well as a small number of conditions that can present as phenocopies.\r\n\r\nPlease note a number of smaller panels are available that cover specific ciliopathy phenotypes such as Bardet-Biedl syndrome, Jeune syndrome and Joubert syndrome.\r\n\r\nPlease refer to the Ciliary Dyskinesia panel for conditions caused by mutations in genes encoding components of the motile cilia, which present with predominantly respiratory phenotypes.","status":"public","version":"1.99","version_created":"2026-02-26T20:47:06.255758+11:00","relevant_disorders":["Ciliopathy","MONDO:0005308"],"stats":{"number_of_genes":158,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D6S586E"],"biotype":"protein_coding","hgnc_id":"HGNC:1802","gene_name":"corneodesmosin","omim_gene":["602593"],"alias_name":null,"gene_symbol":"CDSN","hgnc_symbol":"CDSN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31082867-31088223","ensembl_id":"ENSG00000204539"}},"GRch38":{"90":{"location":"6:31115090-31120446","ensembl_id":"ENSG00000204539"}}},"hgnc_date_symbol_changed":"1998-05-14"},"entity_type":"gene","entity_name":"CDSN","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["23957618","20691404","21191406","25473393"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Peeling skin syndrome 1\t(MIM#270300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSL"],"biotype":"protein_coding","hgnc_id":"HGNC:6621","gene_name":"lipase E, hormone sensitive type","omim_gene":["151750"],"alias_name":null,"gene_symbol":"LIPE","hgnc_symbol":"LIPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42905659-42931578","ensembl_id":"ENSG00000079435"}},"GRch38":{"90":{"location":"19:42401507-42427426","ensembl_id":"ENSG00000079435"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"LIPE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27862896","25475467","24848981"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["LIPE-related familial partial lipodystrophy, MONDO:0014431"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAG"],"biotype":"protein_coding","hgnc_id":"HGNC:7632","gene_name":"N-acetyl-alpha-glucosaminidase","omim_gene":["609701"],"alias_name":["Sanfilippo disease IIIB"],"gene_symbol":"NAGLU","hgnc_symbol":"NAGLU","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40688190-40696467","ensembl_id":"ENSG00000108784"}},"GRch38":{"90":{"location":"17:42536172-42544449","ensembl_id":"ENSG00000108784"}}},"hgnc_date_symbol_changed":"1995-09-15"},"entity_type":"gene","entity_name":"NAGLU","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PRO1557","PRO2086"],"biotype":"protein_coding","hgnc_id":"HGNC:11740","gene_name":"transferrin","omim_gene":["190000"],"alias_name":null,"gene_symbol":"TF","hgnc_symbol":"TF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:133464800-133497850","ensembl_id":"ENSG00000091513"}},"GRch38":{"90":{"location":"3:133745956-133779006","ensembl_id":"ENSG00000091513"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11110675","3472216"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Atransferrinaemia MIM# 209300","iron overload","hypochromic anaemia","low serum transferrin","Hemosiderosis of the heart and/or liver","Congestive heart failure"],"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":["FLJ10597"],"biotype":"protein_coding","hgnc_id":"HGNC:25552","gene_name":"ring finger protein 220","omim_gene":["616136"],"alias_name":null,"gene_symbol":"RNF220","hgnc_symbol":"RNF220","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:44870866-45117396","ensembl_id":"ENSG00000187147"}},"GRch38":{"90":{"location":"1:44405194-44651724","ensembl_id":"ENSG00000187147"}}},"hgnc_date_symbol_changed":"2008-06-13"},"entity_type":"gene","entity_name":"RNF220","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33964137","10881263"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM#\t619688","Leukodystrophy","CNS hypomyelination","Ataxia","Intellectual disability","Sensorineural hearing impairment","Elevated hepatic transaminases","Hepatic fibrosis","Dilated cardiomyopathy","Spastic paraplegia","Dysarthria","Abnormality of the corpus callosum"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["SWD3","CFAP89"],"biotype":"protein_coding","hgnc_id":"HGNC:12757","gene_name":"WD repeat domain 5","omim_gene":["609012"],"alias_name":["SWD3, Set1c WD40 repeat protein, homolog (S. cerevisiae)","cilia and flagella associated protein 89"],"gene_symbol":"WDR5","hgnc_symbol":"WDR5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:137000487-137025093","ensembl_id":"ENSG00000196363"}},"GRch38":{"90":{"location":"9:134135365-134159968","ensembl_id":"ENSG00000196363"}}},"hgnc_date_symbol_changed":"1999-08-23"},"entity_type":"gene","entity_name":"WDR5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["36408368"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder MONDO:0700092, WDR5-related"],"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":[]},{"gene_data":{"alias":["VATB","RTA1B","Vma2"],"biotype":"protein_coding","hgnc_id":"HGNC:853","gene_name":"ATPase H+ transporting V1 subunit B1","omim_gene":["192132"],"alias_name":["Renal tubular acidosis with deafness"],"gene_symbol":"ATP6V1B1","hgnc_symbol":"ATP6V1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:71163012-71192536","ensembl_id":"ENSG00000116039"}},"GRch38":{"90":{"location":"2:70935882-70965406","ensembl_id":"ENSG00000116039"}}},"hgnc_date_symbol_changed":"2002-05-10"},"entity_type":"gene","entity_name":"ATP6V1B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9916796","12414817","16611712","18798332","39837581"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["treatable"],"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":["Translokin","TSP57","KIAA0092"],"biotype":"protein_coding","hgnc_id":"HGNC:30794","gene_name":"centrosomal protein 57","omim_gene":["607951"],"alias_name":null,"gene_symbol":"CEP57","hgnc_symbol":"CEP57","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:95523129-95565857","ensembl_id":"ENSG00000166037"}},"GRch38":{"90":{"location":"11:95789965-95832693","ensembl_id":"ENSG00000166037"}}},"hgnc_date_symbol_changed":"2005-12-02"},"entity_type":"gene","entity_name":"CEP57","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24259107","21552266","32861809","30147898"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mosaic variegated aneuploidy syndrome 2, #MIM 614114"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","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":["SATT","ASCT1"],"biotype":"protein_coding","hgnc_id":"HGNC:10942","gene_name":"solute carrier family 1 member 4","omim_gene":["600229"],"alias_name":["alanine/serine/cysteine/threonine transporter"],"gene_symbol":"SLC1A4","hgnc_symbol":"SLC1A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:65215611-65250999","ensembl_id":"ENSG00000115902"}},"GRch38":{"90":{"location":"2:64988477-65023865","ensembl_id":"ENSG00000115902"}}},"hgnc_date_symbol_changed":"1993-12-16"},"entity_type":"gene","entity_name":"SLC1A4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25930971","26138499","26041762","27193218","29989513"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657","MONDO:0014725"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":["ND4L","NAD4L"],"biotype":"protein_coding","hgnc_id":"HGNC:7460","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L","omim_gene":["516004"],"alias_name":["complex I ND4L subunit","NADH-ubiquinone oxidoreductase chain 4L"],"gene_symbol":"MT-ND4L","hgnc_symbol":"MT-ND4L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:10470-10766","ensembl_id":"ENSG00000212907"}},"GRch38":{"90":{"location":"MT:10470-10766","ensembl_id":"ENSG00000212907"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND4L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["8680405","11935318","17003408","22879922","24568867"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-ND4L-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":["JTK13","CD221","IGFIR","MGC18216","IGFR"],"biotype":"protein_coding","hgnc_id":"HGNC:5465","gene_name":"insulin like growth factor 1 receptor","omim_gene":["147370"],"alias_name":null,"gene_symbol":"IGF1R","hgnc_symbol":"IGF1R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:99192200-99507759","ensembl_id":"ENSG00000140443"}},"GRch38":{"90":{"location":"15:98648971-98964530","ensembl_id":"ENSG00000140443"}}},"hgnc_date_symbol_changed":"1988-07-07"},"entity_type":"gene","entity_name":"IGF1R","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["14657428","25040157","23045302","26252249","15928254"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Insulin-like growth factor I, resistance to, MIM#\t270450"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PTPS"],"biotype":"protein_coding","hgnc_id":"HGNC:9689","gene_name":"6-pyruvoyltetrahydropterin synthase","omim_gene":["612719"],"alias_name":null,"gene_symbol":"PTS","hgnc_symbol":"PTS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:112097088-112140678","ensembl_id":"ENSG00000150787"}},"GRch38":{"90":{"location":"11:112226365-112269955","ensembl_id":"ENSG00000150787"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"PTS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9222755"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":145,"hash_id":null,"name":"Neurotransmitter Defects","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe panel contains genes associated with neurotransmitter disorders, a heterogeneous group of disorders involving defects in the metabolism of monoamines (dopamine, norepinephrine, epinephrine and serotonin), GABA and glycine. The clinical presentations were highly variable, and may include seizures, neurodevelopmental delay, movement disorders, gait abnormalities, hypotonia, autonomic features. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) may be helpful in delineating the metabolic defects.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Neurotransmitter disorders' panel V1.6 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.8","version_created":"2026-01-09T20:59:22.980216+11:00","relevant_disorders":["Abnormal CSF metabolite concentration","HP:0025454"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC4093","MKS10"],"biotype":"protein_coding","hgnc_id":"HGNC:28636","gene_name":"B9 domain containing 2","omim_gene":["611951"],"alias_name":null,"gene_symbol":"B9D2","hgnc_symbol":"B9D2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41860326-41870078","ensembl_id":"ENSG00000123810"}},"GRch38":{"90":{"location":"19:41354421-41364173","ensembl_id":"ENSG00000123810"}}},"hgnc_date_symbol_changed":"2007-08-21"},"entity_type":"gene","entity_name":"B9D2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21763481"],"evidence":["Expert Review Amber","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Meckel syndrome 10, MIM# 614175"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:14937","gene_name":"phosphatidylinositol glycan anchor biosynthesis class S","omim_gene":["610271"],"alias_name":["GPI transamidase subunit"],"gene_symbol":"PIGS","hgnc_symbol":"PIGS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26880401-26898890","ensembl_id":"ENSG00000087111"}},"GRch38":{"90":{"location":"17:28553383-28571872","ensembl_id":"ENSG00000087111"}}},"hgnc_date_symbol_changed":"2001-03-27"},"entity_type":"gene","entity_name":"PIGS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30269814"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Glycosylphosphatidylinositol biosynthesis defect 18\t618143"],"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":[]},{"gene_data":{"alias":["FLJ34154","KIAA0614"],"biotype":"protein_coding","hgnc_id":"HGNC:26611","gene_name":"HECT domain E3 ubiquitin protein ligase 4","omim_gene":null,"alias_name":null,"gene_symbol":"HECTD4","hgnc_symbol":"HECTD4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:112597992-112819896","ensembl_id":"ENSG00000173064"}},"GRch38":{"90":{"location":"12:112160188-112382439","ensembl_id":"ENSG00000173064"}}},"hgnc_date_symbol_changed":"2012-08-14"},"entity_type":"gene","entity_name":"HECTD4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36401616"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM# 620250"],"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":[]},{"gene_data":{"alias":["COX4-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2265","gene_name":"cytochrome c oxidase subunit 4I1","omim_gene":["123864"],"alias_name":null,"gene_symbol":"COX4I1","hgnc_symbol":"COX4I1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:85832239-85840650","ensembl_id":"ENSG00000131143"}},"GRch38":{"90":{"location":"16:85798633-85807044","ensembl_id":"ENSG00000131143"}}},"hgnc_date_symbol_changed":"2001-12-07"},"entity_type":"gene","entity_name":"COX4I1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28766551","22592081","31290619"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060","regression","seizures","short stature","mild dysmorphic features","Fanconi anemia"],"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":["DLDH"],"biotype":"protein_coding","hgnc_id":"HGNC:2898","gene_name":"dihydrolipoamide dehydrogenase","omim_gene":["238331"],"alias_name":["E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"],"gene_symbol":"DLD","hgnc_symbol":"DLD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:107531415-107572175","ensembl_id":"ENSG00000091140"}},"GRch38":{"90":{"location":"7:107890970-107931730","ensembl_id":"ENSG00000091140"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"DLD","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3023","gene_name":"dopamine receptor D2","omim_gene":["126450"],"alias_name":null,"gene_symbol":"DRD2","hgnc_symbol":"DRD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:113280318-113346413","ensembl_id":"ENSG00000149295"}},"GRch38":{"90":{"location":"11:113409615-113475691","ensembl_id":"ENSG00000149295"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"DRD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["33200438"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Combined dystonia, MONDO:0020065, DRD2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[],"biotype":"IG_C_gene","hgnc_id":"HGNC:5541","gene_name":"immunoglobulin heavy constant mu","omim_gene":["147020"],"alias_name":null,"gene_symbol":"IGHM","hgnc_symbol":"IGHM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:106320349-106322323","ensembl_id":"ENSG00000211899"}},"GRch38":{"90":{"location":"14:105851708-105856218","ensembl_id":"ENSG00000211899"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IGHM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12370281","8890099"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Agammaglobulinemia 1, MIM#\t601495"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":222,"hash_id":null,"name":"Predominantly Antibody Deficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause predominantly antibody deficiency, including:\r\n- Agammaglobulinemia\r\n- Severe Reduction in All Serum Immunoglobulin Isotypes with Profoundly Decreased or Absent B Cells, Agammaglobulinemia \r\n- CVID Phenotype\r\n- Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype\r\n- Severe Reduction in Serum IgG and IgA with Normal/Elevated IgM and Normal Numbers of B cells, Hyper IgM\r\n- Isotype, Light Chain, or Functional Deficiencies with Generally Normal Numbers of B Cells\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":"1.4","version_created":"2025-09-11T18:11:50.640122+10:00","relevant_disorders":["Decreased immunoglobulin level","HP:0041078"],"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AGM1","DKFZP434B187","PAGM"],"biotype":"protein_coding","hgnc_id":"HGNC:8907","gene_name":"phosphoglucomutase 3","omim_gene":["172100"],"alias_name":["acetylglucosamine phosphomutase"],"gene_symbol":"PGM3","hgnc_symbol":"PGM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:83870869-83903655","ensembl_id":"ENSG00000013375"}},"GRch38":{"90":{"location":"6:83161150-83193936","ensembl_id":"ENSG00000013375"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30578875","31231132","33098103","30157810","28704707"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Immunodeficiency 23, MIM# 615816","PGM3-CDG, MONDO:0014353"],"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 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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:3649","gene_name":"fem-1 homolog B","omim_gene":["613539"],"alias_name":null,"gene_symbol":"FEM1B","hgnc_symbol":"FEM1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68570141-68588203","ensembl_id":"ENSG00000169018"}},"GRch38":{"90":{"location":"15:68277803-68295865","ensembl_id":"ENSG00000169018"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"FEM1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","38465576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263"],"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. 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VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDHF14","FAT-J","CDHR11"],"biotype":"protein_coding","hgnc_id":"HGNC:23109","gene_name":"FAT atypical cadherin 4","omim_gene":["612411"],"alias_name":["cadherin-related family member 11"],"gene_symbol":"FAT4","hgnc_symbol":"FAT4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:126237554-126414087","ensembl_id":"ENSG00000196159"}},"GRch38":{"90":{"location":"4:125316399-125492932","ensembl_id":"ENSG00000196159"}}},"hgnc_date_symbol_changed":"2003-09-11"},"entity_type":"gene","entity_name":"FAT4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24913602"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","London South GLH"],"phenotypes":["Hennekam lymphangiectasia-lymphedema syndrome 2, 616006","Van Maldergem syndrome 2, 615546"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD132"],"biotype":"protein_coding","hgnc_id":"HGNC:6010","gene_name":"interleukin 2 receptor subunit gamma","omim_gene":["308380"],"alias_name":null,"gene_symbol":"IL2RG","hgnc_symbol":"IL2RG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:70327254-70331958","ensembl_id":"ENSG00000147168"}},"GRch38":{"90":{"location":"X:71107404-71112108","ensembl_id":"ENSG00000147168"}}},"hgnc_date_symbol_changed":"1992-11-30"},"entity_type":"gene","entity_name":"IL2RG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Severe combined immunodeficiency, X-linked, 300400 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BCD541","SMNT","SMA1","SMA2","SMA3","GEMIN1","TDRD16A"],"biotype":"protein_coding","hgnc_id":"HGNC:11117","gene_name":"survival of motor neuron 1, telomeric","omim_gene":["600354"],"alias_name":["gemin-1","tudor domain containing 16A"],"gene_symbol":"SMN1","hgnc_symbol":"SMN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:70220768-70249769","ensembl_id":"ENSG00000172062"}},"GRch38":{"90":{"location":"5:70925030-70953942","ensembl_id":"ENSG00000172062"}}},"hgnc_date_symbol_changed":"1996-12-12"},"entity_type":"gene","entity_name":"SMN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Spinal muscular atrophy-1, 253300 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMP35","PAF-1","RNF72","ZWS3"],"biotype":"protein_coding","hgnc_id":"HGNC:9717","gene_name":"peroxisomal biogenesis factor 2","omim_gene":["170993"],"alias_name":["Zellweger syndrome","peroxin 2"],"gene_symbol":"PEX2","hgnc_symbol":"PEX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:77892494-77913280","ensembl_id":"ENSG00000164751"}},"GRch38":{"90":{"location":"8:76980258-77001044","ensembl_id":"ENSG00000164751"}}},"hgnc_date_symbol_changed":"2010-01-25"},"entity_type":"gene","entity_name":"PEX2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Peroxisome biogenesis disorder 5A (Zellweger), 614866"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TSPAN22","rd2","CACD2"],"biotype":"protein_coding","hgnc_id":"HGNC:9942","gene_name":"peripherin 2","omim_gene":["179605"],"alias_name":null,"gene_symbol":"PRPH2","hgnc_symbol":"PRPH2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42664340-42690312","ensembl_id":"ENSG00000112619"}},"GRch38":{"90":{"location":"6:42696600-42722574","ensembl_id":"ENSG00000112619"}}},"hgnc_date_symbol_changed":"2006-11-23"},"entity_type":"gene","entity_name":"PRPH2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Choroidal dystrophy, central areolar 2 MIM#613105"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.69","version_created":"2026-04-14T07:26:39.974051+10:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32242900"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13829","gene_name":"Wnt family member 10A","omim_gene":["606268"],"alias_name":null,"gene_symbol":"WNT10A","hgnc_symbol":"WNT10A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219745085-219764303","ensembl_id":"ENSG00000135925"}},"GRch38":{"90":{"location":"2:218880363-218899581","ensembl_id":"ENSG00000135925"}}},"hgnc_date_symbol_changed":"2001-07-13"},"entity_type":"gene","entity_name":"WNT10A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31332722"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Odontoonychodermal dysplasia"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3269,"hash_id":null,"name":"Hair disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause syndromic and non-syndromic disorders that have hair abnormalities as a prominent feature of the condition. \r\n\r\nThe conditions include: hypotrichosis, hair shaft disorders with/without hair fragility, ectodermal dysplasias, trichorhinophalangeal syndrome, and atrichia with papular lesions.\r\nFor hypertrichosis the Hypertrichosis syndromes gene panel is more suitable.\r\n\r\nThe panel was developed and is maintained by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.84","version_created":"2026-03-30T12:08:41.487037+11:00","relevant_disorders":["Abnormal hair morphology","HP:0001595"],"stats":{"number_of_genes":60,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10351","gene_name":"ribosomal protein L3 like","omim_gene":["617416"],"alias_name":null,"gene_symbol":"RPL3L","hgnc_symbol":"RPL3L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1993975-2007607","ensembl_id":"ENSG00000140986"}},"GRch38":{"90":{"location":"16:1943974-1957606","ensembl_id":"ENSG00000140986"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"RPL3L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32514796","32870709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, dilated, 2D, MIM# 619371","Neonatal dilated cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IGF1A","IGFI","IGF-I"],"biotype":"protein_coding","hgnc_id":"HGNC:5464","gene_name":"insulin like growth factor 1","omim_gene":["147440"],"alias_name":["somatomedin C"],"gene_symbol":"IGF1","hgnc_symbol":"IGF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:102789645-102874423","ensembl_id":"ENSG00000017427"}},"GRch38":{"90":{"location":"12:102395867-102480645","ensembl_id":"ENSG00000017427"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IGF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Insulin-like growth factor deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FIX"],"biotype":"protein_coding","hgnc_id":"HGNC:3551","gene_name":"coagulation factor IX","omim_gene":["300746"],"alias_name":["Factor IX","plasma thromboplastic component","Christmas disease","hemophilia B"],"gene_symbol":"F9","hgnc_symbol":"F9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:138612917-138645617","ensembl_id":"ENSG00000101981"}},"GRch38":{"90":{"location":"X:139530758-139563458","ensembl_id":"ENSG00000101981"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"F9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hemophilia B"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ORC1","D13S327"],"biotype":"protein_coding","hgnc_id":"HGNC:10985","gene_name":"solute carrier family 25 member 15","omim_gene":["603861"],"alias_name":["ornithine transporter 1"],"gene_symbol":"SLC25A15","hgnc_symbol":"SLC25A15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:41363548-41384247","ensembl_id":"ENSG00000102743"}},"GRch38":{"90":{"location":"13:40789412-40810111","ensembl_id":"ENSG00000102743"}}},"hgnc_date_symbol_changed":"1999-06-28"},"entity_type":"gene","entity_name":"SLC25A15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1008","gene_name":"B-cell CLL/lymphoma 9","omim_gene":["602597"],"alias_name":null,"gene_symbol":"BCL9","hgnc_symbol":"BCL9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147013182-147098017","ensembl_id":"ENSG00000116128"}},"GRch38":{"90":{"location":"1:147541412-147626216","ensembl_id":"ENSG00000116128"}}},"hgnc_date_symbol_changed":"1997-07-01"},"entity_type":"gene","entity_name":"BCL9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Congenital heart disease"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.2","ENB1","BFNC","KCNA11","HNSPC"],"biotype":"protein_coding","hgnc_id":"HGNC:6296","gene_name":"potassium voltage-gated channel subfamily Q member 2","omim_gene":["602235"],"alias_name":null,"gene_symbol":"KCNQ2","hgnc_symbol":"KCNQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62037542-62103993","ensembl_id":"ENSG00000075043"}},"GRch38":{"90":{"location":"20:63400210-63472677","ensembl_id":"ENSG00000075043"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Epilepsy, benign neonatal"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OATP8","OATP1B3"],"biotype":"protein_coding","hgnc_id":"HGNC:10961","gene_name":"solute carrier organic anion transporter family member 1B3","omim_gene":["605495"],"alias_name":null,"gene_symbol":"SLCO1B3","hgnc_symbol":"SLCO1B3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:20963636-21243040","ensembl_id":"ENSG00000111700"}},"GRch38":{"90":{"location":"12:20810702-20916911","ensembl_id":"ENSG00000111700"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"SLCO1B3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hyperbilirubinemia, Rotor type, digenic"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDA-II","CDAII","HEMPAS"],"biotype":"protein_coding","hgnc_id":"HGNC:10702","gene_name":"Sec23 homolog B, coat complex II component","omim_gene":["610512"],"alias_name":null,"gene_symbol":"SEC23B","hgnc_symbol":"SEC23B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:18488137-18542059","ensembl_id":"ENSG00000101310"}},"GRch38":{"90":{"location":"20:18507493-18561415","ensembl_id":"ENSG00000101310"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"SEC23B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19561605","19621418"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH","London South GLH","Victorian Clinical Genetics Services"],"phenotypes":["Dyserythropoietic anaemia, congenital, type II , MIM#224100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ALR","MLL4","CAGL114"],"biotype":"protein_coding","hgnc_id":"HGNC:7133","gene_name":"lysine methyltransferase 2D","omim_gene":["602113"],"alias_name":null,"gene_symbol":"KMT2D","hgnc_symbol":"KMT2D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49412758-49453557","ensembl_id":"ENSG00000167548"}},"GRch38":{"90":{"location":"12:49018975-49059774","ensembl_id":"ENSG00000167548"}}},"hgnc_date_symbol_changed":"2013-05-09"},"entity_type":"gene","entity_name":"KMT2D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22126750","20711175","21671394","26049589","25142838"],"evidence":["Literature","Expert Review Green","Radboud University Medical Center, Nijmegen","UKGTN","Emory Genetics Laboratory","Expert Review","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Kabuki syndrome 1, 147920"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["KIAA1395","ZIR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19189","gene_name":"dedicator of cytokinesis 6","omim_gene":["614194"],"alias_name":null,"gene_symbol":"DOCK6","hgnc_symbol":"DOCK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11309971-11373157","ensembl_id":"ENSG00000130158"}},"GRch38":{"90":{"location":"19:11199295-11262481","ensembl_id":"ENSG00000130158"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green"],"phenotypes":["ADAMS-OLIVER 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:7897","gene_name":"NPC intracellular cholesterol transporter 1","omim_gene":["607623"],"alias_name":null,"gene_symbol":"NPC1","hgnc_symbol":"NPC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:21086148-21166862","ensembl_id":"ENSG00000141458"}},"GRch38":{"90":{"location":"18:23506184-23586898","ensembl_id":"ENSG00000141458"}}},"hgnc_date_symbol_changed":"1993-04-13"},"entity_type":"gene","entity_name":"NPC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25902754"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Niemann-Pick disease, MIM#\t257220"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3400,"hash_id":null,"name":"Liver Failure_Paediatric","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel includes primary liver disorders as well as metabolic and other multi-system disorders that have been reported to cause liver failure in children.\r\n\r\nPlease also consider using the Cholestasis panel if clinically indicated.","status":"public","version":"1.33","version_created":"2026-01-08T17:48:33.703909+11:00","relevant_disorders":["Liver failure","HP:0001399"],"stats":{"number_of_genes":68,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:22923","gene_name":"GDP-mannose pyrophosphorylase A","omim_gene":["615495"],"alias_name":null,"gene_symbol":"GMPPA","hgnc_symbol":"GMPPA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220363589-220371710","ensembl_id":"ENSG00000144591"}},"GRch38":{"90":{"location":"2:219498867-219506989","ensembl_id":"ENSG00000144591"}}},"hgnc_date_symbol_changed":"2005-01-10"},"entity_type":"gene","entity_name":"GMPPA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3439,"hash_id":null,"name":"Autonomic neuropathy","disease_group":"Autonomic Neuropathy","disease_sub_group":"","description":"This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).","status":"public","version":"1.2","version_created":"2026-03-24T17:08:06.931372+11:00","relevant_disorders":["Abnormality of the autonomic nervous system HP:0002270"],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TTF-2","HFKH4"],"biotype":"protein_coding","hgnc_id":"HGNC:3806","gene_name":"forkhead box E1","omim_gene":["602617"],"alias_name":["thyroid transcription factor 2"],"gene_symbol":"FOXE1","hgnc_symbol":"FOXE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:100615536-100618986","ensembl_id":"ENSG00000178919"}},"GRch38":{"90":{"location":"9:97853254-97856715","ensembl_id":"ENSG00000178919"}}},"hgnc_date_symbol_changed":"1997-02-14"},"entity_type":"gene","entity_name":"FOXE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20453517","24219130","9697705","12165566","16882747","20484477"],"evidence":["Expert Review Green","Genomics England PanelApp","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN","Literature"],"phenotypes":["Bamforth-Lazarus syndrome, MIM# 241850","MONDO:0009437"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3498,"hash_id":null,"name":"Choanal atresia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.6","version_created":"2024-10-03T11:49:26.278825+10:00","relevant_disorders":["Choanal atresia HP:0000453"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FAD","FAD1","BRCC2","XRCC11"],"biotype":"protein_coding","hgnc_id":"HGNC:1101","gene_name":"BRCA2, DNA repair associated","omim_gene":["600185"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 2"],"gene_symbol":"BRCA2","hgnc_symbol":"BRCA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:32889611-32973805","ensembl_id":"ENSG00000139618"}},"GRch38":{"90":{"location":"13:32315474-32400266","ensembl_id":"ENSG00000139618"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"BRCA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24395671","11239453","14670928","12065746","28185119"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anaemia, complementation group D1, MIM# 605724"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DLNB11"],"biotype":"protein_coding","hgnc_id":"HGNC:23688","gene_name":"B-cell CLL/lymphoma 9 like","omim_gene":["609004"],"alias_name":null,"gene_symbol":"BCL9L","hgnc_symbol":"BCL9L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118764584-118796317","ensembl_id":"ENSG00000186174"}},"GRch38":{"90":{"location":"11:118893875-118925608","ensembl_id":"ENSG00000186174"}}},"hgnc_date_symbol_changed":"2003-12-09"},"entity_type":"gene","entity_name":"BCL9L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23035047","8757136","30366904"],"evidence":["Expert Review Amber","Other","Literature","Expert list","Genomics England PanelApp"],"phenotypes":["Heterotaxy","Congenital Heart Disease"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACHRE"],"biotype":"protein_coding","hgnc_id":"HGNC:1966","gene_name":"cholinergic receptor nicotinic epsilon subunit","omim_gene":["100725"],"alias_name":["acetylcholine receptor, nicotinic, epsilon (muscle)"],"gene_symbol":"CHRNE","hgnc_symbol":"CHRNE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:4801069-4806369","ensembl_id":"ENSG00000108556"}},"GRch38":{"90":{"location":"17:4897774-4903074","ensembl_id":"ENSG00000108556"}}},"hgnc_date_symbol_changed":"1992-04-23"},"entity_type":"gene","entity_name":"CHRNE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 4A, slow-channel, 605809","Myasthenic syndrome, congenital, 4B, fast-channel, 616324","Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:362","gene_name":"adenylate kinase 2","omim_gene":["103020"],"alias_name":null,"gene_symbol":"AK2","hgnc_symbol":"AK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:33473585-33546597","ensembl_id":"ENSG00000004455"}},"GRch38":{"90":{"location":"1:33007940-33080996","ensembl_id":"ENSG00000004455"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"AK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["19043416","19043417"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Reticular dysgenesis, MIM# 267500","MONDO:0009973"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:388","gene_name":"aldo-keto reductase family 1 member D1","omim_gene":["604741"],"alias_name":["delta 4-3-ketosteroid-5-beta-reductase"],"gene_symbol":"AKR1D1","hgnc_symbol":"AKR1D1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:137687070-137802732","ensembl_id":"ENSG00000122787"}},"GRch38":{"90":{"location":"7:138002324-138117986","ensembl_id":"ENSG00000122787"}}},"hgnc_date_symbol_changed":"1995-11-02"},"entity_type":"gene","entity_name":"AKR1D1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["12970144","20522910"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Bile acid synthesis defect, congenital, 2, MIM# 235555"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC25043","DKFZp566M114","DKFZp313H0531","DKFZp779O2438"],"biotype":"protein_coding","hgnc_id":"HGNC:23088","gene_name":"solute carrier family 10 member 7","omim_gene":["611459"],"alias_name":null,"gene_symbol":"SLC10A7","hgnc_symbol":"SLC10A7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:147175127-147443123","ensembl_id":"ENSG00000120519"}},"GRch38":{"90":{"location":"4:146253975-146521964","ensembl_id":"ENSG00000120519"}}},"hgnc_date_symbol_changed":"2006-12-19"},"entity_type":"gene","entity_name":"SLC10A7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29878199","30082715","31191616"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LGR3"],"biotype":"protein_coding","hgnc_id":"HGNC:12373","gene_name":"thyroid stimulating hormone receptor","omim_gene":["603372"],"alias_name":null,"gene_symbol":"TSHR","hgnc_symbol":"TSHR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:81421333-81612646","ensembl_id":"ENSG00000165409"}},"GRch38":{"90":{"location":"14:80954989-81146302","ensembl_id":"ENSG00000165409"}}},"hgnc_date_symbol_changed":"1990-03-05"},"entity_type":"gene","entity_name":"TSHR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23295291","9360555","7800007","18655531","15163335"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperthyroidism, nonautoimmune - MIM#609152","Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23560"],"biotype":"protein_coding","hgnc_id":"HGNC:26291","gene_name":"Bardet-Biedl syndrome 10","omim_gene":["610148"],"alias_name":null,"gene_symbol":"BBS10","hgnc_symbol":"BBS10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:76738254-76742222","ensembl_id":"ENSG00000179941"}},"GRch38":{"90":{"location":"12:76344474-76348442","ensembl_id":"ENSG00000179941"}}},"hgnc_date_symbol_changed":"2006-04-28"},"entity_type":"gene","entity_name":"BBS10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16582908","19252258"],"evidence":["Expert Review Green","Genomics England PanelApp","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Bardet-Biedl syndrome 10, MIM# 615987"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNRPI","HNRNP-I","PTB2","PTB3","PTB-1","PTB4","pPTB"],"biotype":"protein_coding","hgnc_id":"HGNC:9583","gene_name":"polypyrimidine tract binding protein 1","omim_gene":["600693"],"alias_name":["heterogeneous nuclear ribonucleoprotein I"],"gene_symbol":"PTBP1","hgnc_symbol":"PTBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:797075-812327","ensembl_id":"ENSG00000011304"}},"GRch38":{"90":{"location":"19:797075-812327","ensembl_id":"ENSG00000011304"}}},"hgnc_date_symbol_changed":"2002-01-25"},"entity_type":"gene","entity_name":"PTBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40965981"],"evidence":["Expert Review Green","Literature"],"phenotypes":["STAD syndrome, MIM# 621495"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13478","gene_name":"ubiquitin protein ligase E3B","omim_gene":["608047"],"alias_name":null,"gene_symbol":"UBE3B","hgnc_symbol":"UBE3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:109915207-109974507","ensembl_id":"ENSG00000151148"}},"GRch38":{"90":{"location":"12:109477402-109536705","ensembl_id":"ENSG00000151148"}}},"hgnc_date_symbol_changed":"2004-03-02"},"entity_type":"gene","entity_name":"UBE3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23200864","23200864","34012380","32949109","27763745"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Kaufman oculocerebrofacial syndrome, 244450 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10879","StIP"],"biotype":"protein_coding","hgnc_id":"HGNC:18248","gene_name":"elongator acetyltransferase complex subunit 2","omim_gene":["616054"],"alias_name":null,"gene_symbol":"ELP2","hgnc_symbol":"ELP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:33709407-33757909","ensembl_id":"ENSG00000134759"}},"GRch38":{"90":{"location":"18:36129444-36180556","ensembl_id":"ENSG00000134759"}}},"hgnc_date_symbol_changed":"2007-04-20"},"entity_type":"gene","entity_name":"ELP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21937992","25847581","32573669","34653680"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 58, MIM# 617270"],"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. 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