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For early onset dilated cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England 'Dilated Cardiomyopathy - teen and adult' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England 5/8/2020.\r\n\r\nThe panel is aligned with the assessments of DCM genes by ClinGen, Jordan E et al, 2021, PMID 33947203.","status":"public","version":"1.66","version_created":"2026-04-02T19:34:23.537467+11:00","relevant_disorders":["Dilated cardiomyopathy","HP:0001644"],"stats":{"number_of_genes":69,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CED","TGFbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:11766","gene_name":"transforming growth factor beta 1","omim_gene":["190180"],"alias_name":["Camurati-Engelmann disease","prepro-transforming growth factor beta-1"],"gene_symbol":"TGFB1","hgnc_symbol":"TGFB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41807492-41859816","ensembl_id":"ENSG00000105329"}},"GRch38":{"90":{"location":"19:41301587-41353911","ensembl_id":"ENSG00000105329"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TGFB1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29483653"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Inflammatory bowel disease, immunodeficiency, and encephalopathy, MIM# 618213"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ32122","FLJ43653","ZIZ2","ACG"],"biotype":"protein_coding","hgnc_id":"HGNC:23483","gene_name":"dedicator of cytokinesis 11","omim_gene":["300681"],"alias_name":["zizimin2"],"gene_symbol":"DOCK11","hgnc_symbol":"DOCK11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:117629861-117820126","ensembl_id":"ENSG00000147251"}},"GRch38":{"90":{"location":"X:118495898-118686163","ensembl_id":"ENSG00000147251"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 37342957","PMID: 36952639"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109","Inflammatory bowel disease"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":123,"hash_id":null,"name":"Inflammatory bowel disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.126","version_created":"2025-10-16T15:50:33.114198+11:00","relevant_disorders":["Gastrointestinal inflammation","HP:0004386"],"stats":{"number_of_genes":85,"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":["LRBP","MK"],"biotype":"protein_coding","hgnc_id":"HGNC:7530","gene_name":"mevalonate kinase","omim_gene":["251170"],"alias_name":["LH receptor mRNA-binding protein","mevalonic aciduria"],"gene_symbol":"MVK","hgnc_symbol":"MVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110011060-110035067","ensembl_id":"ENSG00000110921"}},"GRch38":{"90":{"location":"12:109573255-109598117","ensembl_id":"ENSG00000110921"}}},"hgnc_date_symbol_changed":"1992-10-06"},"entity_type":"gene","entity_name":"MVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41240373","26202976"],"evidence":["Expert Review Green","Literature"],"phenotypes":["porokeratosis 3, disseminated superficial actinic type MONDO:0008293"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"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":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["R51H3","Trad","HsTRAD"],"biotype":"protein_coding","hgnc_id":"HGNC:9823","gene_name":"RAD51 paralog D","omim_gene":["602954"],"alias_name":["recombination repair protein","DNA repair protein RAD51 homolog 4"],"gene_symbol":"RAD51D","hgnc_symbol":"RAD51D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:33426811-33448541","ensembl_id":"ENSG00000185379"}},"GRch38":{"90":{"location":"17:35092208-35121522","ensembl_id":"ENSG00000185379"}}},"hgnc_date_symbol_changed":"2011-07-01"},"entity_type":"gene","entity_name":"RAD51D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 28646019","31937788","26057125"],"evidence":["Expert Review Green","Literature"],"phenotypes":["{Breast-ovarian cancer, familial, susceptibility to, 4} 614291"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:31088","gene_name":"ALG10B, alpha-1,2-glucosyltransferase","omim_gene":null,"alias_name":["potassium channel regulator 1","dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"],"gene_symbol":"ALG10B","hgnc_symbol":"ALG10B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:38710380-38717784","ensembl_id":"ENSG00000175548"}},"GRch38":{"90":{"location":"12:38316578-38329728","ensembl_id":"ENSG00000175548"}}},"hgnc_date_symbol_changed":"2004-11-30"},"entity_type":"gene","entity_name":"ALG10B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37071726"],"evidence":["ClinGen"],"phenotypes":["long QT syndrome MONDO:0002442"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NF1A"],"biotype":"protein_coding","hgnc_id":"HGNC:7788","gene_name":"nuclear factor I X","omim_gene":["164005"],"alias_name":["CCAAT-binding transcription factor"],"gene_symbol":"NFIX","hgnc_symbol":"NFIX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13106422-13209610","ensembl_id":"ENSG00000008441"}},"GRch38":{"90":{"location":"19:12995608-13098796","ensembl_id":"ENSG00000008441"}}},"hgnc_date_symbol_changed":"1993-11-03"},"entity_type":"gene","entity_name":"NFIX","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":["KIAA1106","NZF1","ZC2HC4B","ZC2H2C2"],"biotype":"protein_coding","hgnc_id":"HGNC:7623","gene_name":"myelin transcription factor 1 like","omim_gene":["613084"],"alias_name":["neural zinc finger transcription factor 1"],"gene_symbol":"MYT1L","hgnc_symbol":"MYT1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:1792885-2335032","ensembl_id":"ENSG00000186487"}},"GRch38":{"90":{"location":"2:1789113-2331260","ensembl_id":"ENSG00000186487"}}},"hgnc_date_symbol_changed":"1996-07-11"},"entity_type":"gene","entity_name":"MYT1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID: 32065501)"],"evidence":["Expert Review Green","Literature"],"phenotypes":["intellectual disability","macrocephaly","epilepsy","autism","Mental retardation, autosomal dominant 39, MIM#\t616521"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["RPAC2","RPA16","RPO1-3","RPA9","MGC9850"],"biotype":"protein_coding","hgnc_id":"HGNC:20422","gene_name":"RNA polymerase I subunit D","omim_gene":["613715"],"alias_name":null,"gene_symbol":"POLR1D","hgnc_symbol":"POLR1D","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:28194903-28241548","ensembl_id":"ENSG00000186184"}},"GRch38":{"90":{"location":"13:27620742-27744237","ensembl_id":"ENSG00000186184"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1D","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131976","24603435","27448281","25790162"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Treacher Collins syndrome 2, MIM# 613717"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DJ159A19.3","RP1-159A19.1"],"biotype":"protein_coding","hgnc_id":"HGNC:25230","gene_name":"AT-hook DNA binding motif containing 1","omim_gene":["615790"],"alias_name":null,"gene_symbol":"AHDC1","hgnc_symbol":"AHDC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27860546-27930942","ensembl_id":"ENSG00000126705"}},"GRch38":{"90":{"location":"1:27534035-27604431","ensembl_id":"ENSG00000126705"}}},"hgnc_date_symbol_changed":"2005-07-21"},"entity_type":"gene","entity_name":"AHDC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24791903","27148574","30152016"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Xia-Gibbs syndrome, MIM# 615829","AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome MONDO:0014358"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAD1","FANCQ"],"biotype":"protein_coding","hgnc_id":"HGNC:3436","gene_name":"ERCC excision repair 4, endonuclease catalytic subunit","omim_gene":["133520"],"alias_name":["xeroderma pigmentosum, complementation group F"],"gene_symbol":"ERCC4","hgnc_symbol":"ERCC4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:14014014-14046202","ensembl_id":"ENSG00000175595"}},"GRch38":{"90":{"location":"16:13920157-13952345","ensembl_id":"ENSG00000175595"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23623386","8797827","23623389","17183314","29105242"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group Q, MIM# 615272","MONDO:0014108","Xeroderma pigmentosum, group F, MIM# 278760","MONDO:0010215","XFE progeroid syndrome, MIM# 610965","MONDO:0012590"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ22501","BLOC2S3"],"biotype":"protein_coding","hgnc_id":"HGNC:18817","gene_name":"HPS6, biogenesis of lysosomal organelles complex 2 subunit 3","omim_gene":["607522"],"alias_name":null,"gene_symbol":"HPS6","hgnc_symbol":"HPS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:103825147-103827792","ensembl_id":"ENSG00000166189"}},"GRch38":{"90":{"location":"10:102065390-102068038","ensembl_id":"ENSG00000166189"}}},"hgnc_date_symbol_changed":"2004-02-04"},"entity_type":"gene","entity_name":"HPS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12548288","17041891","19843503"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 6, MIM# 614075","MONDO:0013558"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D12S1889","NKHC","MY050"],"biotype":"protein_coding","hgnc_id":"HGNC:6323","gene_name":"kinesin family member 5A","omim_gene":["602821"],"alias_name":null,"gene_symbol":"KIF5A","hgnc_symbol":"KIF5A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57943781-57980415","ensembl_id":"ENSG00000155980"}},"GRch38":{"90":{"location":"12:57549998-57586632","ensembl_id":"ENSG00000155980"}}},"hgnc_date_symbol_changed":"1998-08-24"},"entity_type":"gene","entity_name":"KIF5A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30057544","29892902","28902413","26403765","25695920","25008398","27463701","27414745"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuropathy","Spastic paraplegia 10, autosomal dominant, MIM# 604187","Myoclonus, intractable, neonatal, MIM# 617235"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TCF1ALPHA","TCF10","TCF7L3"],"biotype":"protein_coding","hgnc_id":"HGNC:6551","gene_name":"lymphoid enhancer binding factor 1","omim_gene":["153245"],"alias_name":null,"gene_symbol":"LEF1","hgnc_symbol":"LEF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:108968701-109090112","ensembl_id":"ENSG00000138795"}},"GRch38":{"90":{"location":"4:108047545-108168956","ensembl_id":"ENSG00000138795"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"LEF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32022899","35583550"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Ectodermal dysplasia 17 with or without limb malformations, MIM#\t621224"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5226","gene_name":"heat shock transcription factor 2 binding protein","omim_gene":["604554"],"alias_name":["heat shock factor 2 binding protein"],"gene_symbol":"HSF2BP","hgnc_symbol":"HSF2BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:44949072-45079374","ensembl_id":"ENSG00000160207"}},"GRch38":{"90":{"location":"21:43529192-43659493","ensembl_id":"ENSG00000160207"}}},"hgnc_date_symbol_changed":"1999-08-26"},"entity_type":"gene","entity_name":"HSF2BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32845237","35174157"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Premature ovarian failure, OMIM#619245"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:20127","gene_name":"tubulin epsilon and delta complex 1","omim_gene":null,"alias_name":null,"gene_symbol":"C14orf80","hgnc_symbol":"TEDC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105956192-105965912","ensembl_id":"ENSG00000185347"}},"GRch38":{"90":{"location":"14:105489855-105499575","ensembl_id":"ENSG00000185347"}}},"hgnc_date_symbol_changed":"2017-07-13"},"entity_type":"gene","entity_name":"C14orf80","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39979680","38252227","30842647"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Primary microcephaly, MONDO:0016660"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2978","gene_name":"DNA methyltransferase 3 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It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.301","version_created":"2026-03-12T11:30:58.449890+11:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ00118","FLJ13070","DNAJC5A"],"biotype":"protein_coding","hgnc_id":"HGNC:16235","gene_name":"DnaJ heat shock protein family (Hsp40) member C5","omim_gene":["611203"],"alias_name":null,"gene_symbol":"DNAJC5","hgnc_symbol":"DNAJC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62526518-62567384","ensembl_id":"ENSG00000101152"}},"GRch38":{"90":{"location":"20:63895182-63936031","ensembl_id":"ENSG00000101152"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"DNAJC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820099","22073189","22235333","22978711"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":181,"hash_id":null,"name":"Lysosomal Storage Disorder","disease_group":"Metabolic conditions","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe lysosomal storage diseases are a group of progressive metabolic disorders that are caused by enzyme deficiencies within the lysosome. 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Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["hFrtz","fritz","BBS15"],"biotype":"protein_coding","hgnc_id":"HGNC:28027","gene_name":"WD repeat containing planar cell polarity effector","omim_gene":["613580"],"alias_name":null,"gene_symbol":"WDPCP","hgnc_symbol":"WDPCP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:63348518-64054977","ensembl_id":"ENSG00000143951"}},"GRch38":{"90":{"location":"2:63121383-63827843","ensembl_id":"ENSG00000143951"}}},"hgnc_date_symbol_changed":"2011-02-01"},"entity_type":"gene","entity_name":"WDPCP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20671153","25427950","32055034","29588463","28289185"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Bardet-Biedl syndrome 15, MIM# 615992","OFD","Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085"],"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":["dJ852M4.2"],"biotype":"protein_coding","hgnc_id":"HGNC:16133","gene_name":"TBC1 domain family member 20","omim_gene":["611663"],"alias_name":null,"gene_symbol":"TBC1D20","hgnc_symbol":"TBC1D20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:416124-443197","ensembl_id":"ENSG00000125875"}},"GRch38":{"90":{"location":"20:435480-462553","ensembl_id":"ENSG00000125875"}}},"hgnc_date_symbol_changed":"2005-01-05"},"entity_type":"gene","entity_name":"TBC1D20","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24239381"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Warburg micro syndrome 4, MIM#615663"],"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. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4076","gene_name":"gamma-aminobutyric acid type A receptor alpha2 subunit","omim_gene":["137140"],"alias_name":["GABA(A) receptor, alpha 2"],"gene_symbol":"GABRA2","hgnc_symbol":"GABRA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:46250444-46477247","ensembl_id":"ENSG00000151834"}},"GRch38":{"90":{"location":"4:46248427-46475230","ensembl_id":"ENSG00000151834"}}},"hgnc_date_symbol_changed":"1989-06-02"},"entity_type":"gene","entity_name":"GABRA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29961870","31032849","29422393"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 78, MIM#\t618557"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLK-1","CAT5"],"biotype":"protein_coding","hgnc_id":"HGNC:2244","gene_name":"coenzyme Q7, hydroxylase","omim_gene":["601683"],"alias_name":["5-demethoxyubiquinone hydroxylase"],"gene_symbol":"COQ7","hgnc_symbol":"COQ7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:19078921-19091417","ensembl_id":"ENSG00000167186"}},"GRch38":{"90":{"location":"16:19067599-19080095","ensembl_id":"ENSG00000167186"}}},"hgnc_date_symbol_changed":"1998-09-29"},"entity_type":"gene","entity_name":"COQ7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31240163"],"evidence":["Expert Review Green","Expert Review Green","Expert list"],"phenotypes":["Coenzyme Q10 deficiency, primary, 8 MIM#616733"],"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":["FLJ12118"],"biotype":"protein_coding","hgnc_id":"HGNC:25695","gene_name":"cysteinyl-tRNA synthetase 2, mitochondrial","omim_gene":["612800"],"alias_name":["cysteine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"CARS2","hgnc_symbol":"CARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:111293759-111365950","ensembl_id":"ENSG00000134905"}},"GRch38":{"90":{"location":"13:110641412-110713603","ensembl_id":"ENSG00000134905"}}},"hgnc_date_symbol_changed":"2007-01-24"},"entity_type":"gene","entity_name":"CARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25361775","25787132","30139652"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 27, MIM# 616672","MONDO:0014728"],"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 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265800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["WNT-12","SHFM6"],"biotype":"protein_coding","hgnc_id":"HGNC:12775","gene_name":"Wnt family member 10B","omim_gene":["601906"],"alias_name":null,"gene_symbol":"WNT10B","hgnc_symbol":"WNT10B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:49359123-49365546","ensembl_id":"ENSG00000169884"}},"GRch38":{"90":{"location":"12:48965340-48971763","ensembl_id":"ENSG00000169884"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"WNT10B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24211389"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen","NHS GMS"],"phenotypes":["Split-hand/foot malformation 6 225300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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# 619688","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":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLRP","CSNB1A"],"biotype":"protein_coding","hgnc_id":"HGNC:8082","gene_name":"nyctalopin","omim_gene":["300278"],"alias_name":null,"gene_symbol":"NYX","hgnc_symbol":"NYX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:41306687-41334963","ensembl_id":"ENSG00000188937"}},"GRch38":{"90":{"location":"X:41447434-41475710","ensembl_id":"ENSG00000188937"}}},"hgnc_date_symbol_changed":"2000-07-31"},"entity_type":"gene","entity_name":"NYX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11062471","11062472","16670814","23714322","34064005","34165036"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Night blindness, congenital stationary (complete), 1A, X-linked, 310500"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":283,"hash_id":null,"name":"Congenital Stationary Night Blindness","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.24","version_created":"2026-01-09T18:46:33.929328+11:00","relevant_disorders":["Congenital stationary night blindness","HP:0007642; Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":21,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["LAMAN"],"biotype":"protein_coding","hgnc_id":"HGNC:6826","gene_name":"mannosidase alpha class 2B member 1","omim_gene":["609458"],"alias_name":null,"gene_symbol":"MAN2B1","hgnc_symbol":"MAN2B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12757325-12777556","ensembl_id":"ENSG00000104774"}},"GRch38":{"90":{"location":"19:12646511-12666742","ensembl_id":"ENSG00000104774"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MAN2B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Mannosidosis, alpha-, types I and II, MIM#248500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CATSF","CLN13"],"biotype":"protein_coding","hgnc_id":"HGNC:2531","gene_name":"cathepsin F","omim_gene":["603539"],"alias_name":null,"gene_symbol":"CTSF","hgnc_symbol":"CTSF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66330934-66336312","ensembl_id":"ENSG00000174080"}},"GRch38":{"90":{"location":"11:66563463-66568841","ensembl_id":"ENSG00000174080"}}},"hgnc_date_symbol_changed":"1998-12-17"},"entity_type":"gene","entity_name":"CTSF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPL27"],"biotype":"protein_coding","hgnc_id":"HGNC:5248","gene_name":"heat shock protein family B (small) member 3","omim_gene":["604624"],"alias_name":null,"gene_symbol":"HSPB3","hgnc_symbol":"HSPB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:53751445-53752207","ensembl_id":"ENSG00000169271"}},"GRch38":{"90":{"location":"5:54455601-54456384","ensembl_id":"ENSG00000169271"}}},"hgnc_date_symbol_changed":"1999-01-15"},"entity_type":"gene","entity_name":"HSPB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["20142617","27549087"],"evidence":["Royal Melbourne Hospital","Expert Review Red","Expert Review Red"],"phenotypes":["HMSN, dHMN/dSMA","?Neuronopathy, distal hereditary motor, type IIC, 613376"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PC4","TIS7"],"biotype":"protein_coding","hgnc_id":"HGNC:5456","gene_name":"interferon related developmental regulator 1","omim_gene":["603502"],"alias_name":null,"gene_symbol":"IFRD1","hgnc_symbol":"IFRD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:112063023-112121072","ensembl_id":"ENSG00000006652"}},"GRch38":{"90":{"location":"7:112422968-112481017","ensembl_id":"ENSG00000006652"}}},"hgnc_date_symbol_changed":"1998-01-21"},"entity_type":"gene","entity_name":"IFRD1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29362493","19409521"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Hereditary spastic paraplegia MONDO:0019064, IFRD1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":["refuted"],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnV"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7500","gene_name":"mitochondrially encoded tRNA valine","omim_gene":["590105"],"alias_name":null,"gene_symbol":"MT-TV","hgnc_symbol":"MT-TV","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}},"GRch38":{"90":{"location":"MT:1602-1670","ensembl_id":"ENSG00000210077"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TV","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9450773","12056939","19252805","15320572","18314141","24691472","39468830"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TV-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":3093,"hash_id":null,"name":"Monogenic Diabetes","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel contains genes associated with monogenic diabetes, including: \r\n-familial diabetes\r\n-neonatal diabetes\r\n-maturity onset diabetes of the young\r\n-insulin resistance (including lipodystrophy)\r\n\r\nIt has been compared against the following Genomics England PanelApp panels with all discrepancies reviewed and resolved (February 2026) : monogenic diabetes (V3.8), familial diabetes (V1.68), neonatal diabetes (V5.14), multi-organ autoimmune diabetes (V1.12), diabetes with additional phenotypes suggestive of a monogenic aetiology (V1.68), and insulin resistance (including lipodystrophy)(V1.18). \r\n\r\nFor a high suspicion of a mitochondrial DNA disorder: \r\nrequest a specific assay for mitochondrially encoded genes (such as mitochondrial genome sequencing or whole genome sequencing).","status":"public","version":"0.224","version_created":"2026-04-06T18:03:06.439122+10:00","relevant_disorders":["Diabetes mellitus","HP:0000819"],"stats":{"number_of_genes":109,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["IKK-gamma","NEMO","Fip3p","FIP-3","FIP3","ZC2HC9"],"biotype":null,"hgnc_id":"HGNC:5961","gene_name":"inhibitor of nuclear factor kappa B kinase subunit gamma","omim_gene":["300248"],"alias_name":null,"gene_symbol":"IKBKG","hgnc_symbol":"IKBKG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153769414-153796782","ensembl_id":"ENSG00000073009"}},"GRch38":{"90":{"location":"X:154541199-154565046","ensembl_id":"ENSG00000269335"}}},"hgnc_date_symbol_changed":"1998-09-30"},"entity_type":"gene","entity_name":"IKBKG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Incontinentia pigmenti, MIM#\t308300"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.256","version_created":"2026-03-31T19:05:29.271183+11:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":138,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SHIP2"],"biotype":"protein_coding","hgnc_id":"HGNC:6080","gene_name":"inositol polyphosphate phosphatase like 1","omim_gene":["600829"],"alias_name":["51C protein","SH2 domain-containing inositol 5'-phosphatase 2","phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2"],"gene_symbol":"INPPL1","hgnc_symbol":"INPPL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:71934745-71950149","ensembl_id":"ENSG00000165458"}},"GRch38":{"90":{"location":"11:72223701-72239105","ensembl_id":"ENSG00000165458"}}},"hgnc_date_symbol_changed":"1995-05-12"},"entity_type":"gene","entity_name":"INPPL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Opsismodysplasia, 258480 (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":["PDXPO"],"biotype":"protein_coding","hgnc_id":"HGNC:30260","gene_name":"pyridoxamine 5'-phosphate oxidase","omim_gene":["603287"],"alias_name":null,"gene_symbol":"PNPO","hgnc_symbol":"PNPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:46018872-46025654","ensembl_id":"ENSG00000108439"}},"GRch38":{"90":{"location":"17:47941506-47949308","ensembl_id":"ENSG00000108439"}}},"hgnc_date_symbol_changed":"2004-11-22"},"entity_type":"gene","entity_name":"PNPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (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":["CEV14","Trip230","GMAP-210","GMAP210"],"biotype":"protein_coding","hgnc_id":"HGNC:12305","gene_name":"thyroid hormone receptor interactor 11","omim_gene":["604505"],"alias_name":["golgi-microtubule-associated-protein of 210 kDa"],"gene_symbol":"TRIP11","hgnc_symbol":"TRIP11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:92432335-92507240","ensembl_id":"ENSG00000100815"}},"GRch38":{"90":{"location":"14:91965991-92040896","ensembl_id":"ENSG00000100815"}}},"hgnc_date_symbol_changed":"1999-03-19"},"entity_type":"gene","entity_name":"TRIP11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Achondrogenesis, type IA, 200600 (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":["KIAA0605"],"biotype":"protein_coding","hgnc_id":"HGNC:14631","gene_name":"ADAMTS like 2","omim_gene":["612277"],"alias_name":null,"gene_symbol":"ADAMTSL2","hgnc_symbol":"ADAMTSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:136397286-136440641","ensembl_id":"ENSG00000197859"}},"GRch38":{"90":{"location":"9:133532164-133575519","ensembl_id":"ENSG00000197859"}}},"hgnc_date_symbol_changed":"2005-01-12"},"entity_type":"gene","entity_name":"ADAMTSL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Geleophysic dysplasia 1, 231050 (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":["NOF","NOF1","L49mt"],"biotype":"protein_coding","hgnc_id":"HGNC:1176","gene_name":"mitochondrial ribosomal protein L49","omim_gene":["606866"],"alias_name":["neighbor of FAU","next to FAU"],"gene_symbol":"MRPL49","hgnc_symbol":"MRPL49","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64889655-64894843","ensembl_id":"ENSG00000149792"}},"GRch38":{"90":{"location":"11:65122183-65127371","ensembl_id":"ENSG00000149792"}}},"hgnc_date_symbol_changed":"2001-10-19"},"entity_type":"gene","entity_name":"MRPL49","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39417135"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Combined oxidative phosphorylation deficiency 60, MIM# 621195"],"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":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["BS","RECQL3","RECQ2"],"biotype":"protein_coding","hgnc_id":"HGNC:1058","gene_name":"Bloom syndrome RecQ like helicase","omim_gene":["604610"],"alias_name":null,"gene_symbol":"BLM","hgnc_symbol":"BLM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:91260558-91358859","ensembl_id":"ENSG00000197299"}},"GRch38":{"90":{"location":"15:90717327-90816165","ensembl_id":"ENSG00000197299"}}},"hgnc_date_symbol_changed":"1992-11-06"},"entity_type":"gene","entity_name":"BLM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34794894","29056561","28846287"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bloom syndrome MIM#210900"],"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":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13998","gene_name":"PR/SET domain 13","omim_gene":["616741"],"alias_name":null,"gene_symbol":"PRDM13","hgnc_symbol":"PRDM13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:100054606-100063454","ensembl_id":"ENSG00000112238"}},"GRch38":{"90":{"location":"6:99606730-99615578","ensembl_id":"ENSG00000112238"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM13","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34730112"],"evidence":["Expert Review Amber","Literature","Literature","Literature"],"phenotypes":["Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3236,"hash_id":null,"name":"Pituitary hormone deficiency","disease_group":"Endocrine disorders","disease_sub_group":"Pituitary disorders","description":"This panel contains genes associated with pituitary hormone deficiency. \r\nIncludes isolated hormone deficiency, combined hormone deficiencies, and panhypopituitarism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Pituitary hormone deficiency' panel V4.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.208","version_created":"2026-04-02T15:15:10.893013+11:00","relevant_disorders":["Hypopituitarism","HP:0040075"],"stats":{"number_of_genes":118,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20533"],"biotype":"protein_coding","hgnc_id":"HGNC:26050","gene_name":"transmembrane protein 70","omim_gene":["612418"],"alias_name":null,"gene_symbol":"TMEM70","hgnc_symbol":"TMEM70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:74884672-74895018","ensembl_id":"ENSG00000175606"}},"GRch38":{"90":{"location":"8:73972437-73982783","ensembl_id":"ENSG00000175606"}}},"hgnc_date_symbol_changed":"2005-08-26"},"entity_type":"gene","entity_name":"TMEM70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","MetBioNet","NHS GMS"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052"],"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":null},{"gene_data":{"alias":["G6PD1"],"biotype":"protein_coding","hgnc_id":"HGNC:4057","gene_name":"glucose-6-phosphate dehydrogenase","omim_gene":["305900"],"alias_name":null,"gene_symbol":"G6PD","hgnc_symbol":"G6PD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153759606-153775787","ensembl_id":"ENSG00000160211"}},"GRch38":{"90":{"location":"X:154531391-154547572","ensembl_id":"ENSG00000160211"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"G6PD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Haemolytic anemia, G6PD deficient (favism), MIM#\t300908"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":3271,"hash_id":null,"name":"Pharmacogenomics_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is under development, to be used by the Australian Genomics Acute Care Flagship.","status":"public","version":"0.50","version_created":"2020-08-27T20:53:11.205850+10:00","relevant_disorders":[],"stats":{"number_of_genes":17,"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":[]},{"gene_data":{"alias":["treacle","TCS"],"biotype":"protein_coding","hgnc_id":"HGNC:11654","gene_name":"treacle ribosome biogenesis factor 1","omim_gene":["606847"],"alias_name":null,"gene_symbol":"TCOF1","hgnc_symbol":"TCOF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149737202-149779871","ensembl_id":"ENSG00000070814"}},"GRch38":{"90":{"location":"5:150357639-150400308","ensembl_id":"ENSG00000070814"}}},"hgnc_date_symbol_changed":"1991-05-21"},"entity_type":"gene","entity_name":"TCOF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Treacher Collins syndrome 1"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4707","gene_name":"glycogen synthase 2","omim_gene":["138571"],"alias_name":null,"gene_symbol":"GYS2","hgnc_symbol":"GYS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21689123-21757781","ensembl_id":"ENSG00000111713"}},"GRch38":{"90":{"location":"12:21536189-21604847","ensembl_id":"ENSG00000111713"}}},"hgnc_date_symbol_changed":"1993-09-24"},"entity_type":"gene","entity_name":"GYS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Glycogen storage disease 0"],"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":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18408718","8596229","18596229","19592582"],"evidence":["Expert Review Green","Yorkshire and North East GLH","NHS GMS","Wessex and West Midlands GLH","North West GLH"],"phenotypes":["Iron-refractory iron deficiency anaemia MIM# 206200","Iron malabsorption","hypochromic microcytic anaemia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CDA017","OCA7"],"biotype":"protein_coding","hgnc_id":"HGNC:23405","gene_name":"leucine rich melanocyte differentiation associated","omim_gene":["614537"],"alias_name":["oculocutaneous albinism 7, autosomal recessive"],"gene_symbol":"LRMDA","hgnc_symbol":"LRMDA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:77360998-78319925","ensembl_id":"ENSG00000148655"}},"GRch38":{"90":{"location":"10:75431453-76560167","ensembl_id":"ENSG00000148655"}}},"hgnc_date_symbol_changed":"2017-04-05"},"entity_type":"gene","entity_name":"LRMDA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23395477"],"evidence":["Expert Review Green","Genomics England PanelApp","NHS Genomic Medicine Service","Victorian Clinical Genetics Services"],"phenotypes":["Albinism, oculocutaneous, type VII, MIM# 615179","MONDO:0014070"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3762,"hash_id":null,"name":"Congenital nystagmus","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with isolated or syndromic nystagmus presenting in infancy or early childhood.","status":"public","version":"1.24","version_created":"2026-01-26T13:26:36.043723+11:00","relevant_disorders":["Nystagmus HP:0000639"],"stats":{"number_of_genes":84,"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":["FLJ20265","GPI7","LAS21"],"biotype":"protein_coding","hgnc_id":"HGNC:25985","gene_name":"phosphatidylinositol glycan anchor biosynthesis class G","omim_gene":["616918"],"alias_name":null,"gene_symbol":"PIGG","hgnc_symbol":"PIGG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:492989-533985","ensembl_id":"ENSG00000174227"}},"GRch38":{"90":{"location":"4:499210-540196","ensembl_id":"ENSG00000174227"}}},"hgnc_date_symbol_changed":"2006-02-08"},"entity_type":"gene","entity_name":"PIGG","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26996948"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert Review","Genetic Health Queensland"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 53, MIM#616917"],"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":["EF-Tsmt","EF-TS"],"biotype":"protein_coding","hgnc_id":"HGNC:12367","gene_name":"Ts translation elongation factor, mitochondrial","omim_gene":["604723"],"alias_name":null,"gene_symbol":"TSFM","hgnc_symbol":"TSFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58176372-58201854","ensembl_id":"ENSG00000123297"}},"GRch38":{"90":{"location":"12:57782589-57808071","ensembl_id":"ENSG00000123297"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"TSFM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31267352"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Combined oxidative phosphorylation deficiency 3, MIM#610505"],"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:4908","gene_name":"3-hydroxyisobutyryl-CoA hydrolase","omim_gene":["610690"],"alias_name":null,"gene_symbol":"HIBCH","hgnc_symbol":"HIBCH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191054461-191208919","ensembl_id":"ENSG00000198130"}},"GRch38":{"90":{"location":"2:190189735-190344193","ensembl_id":"ENSG00000198130"}}},"hgnc_date_symbol_changed":"1999-12-07"},"entity_type":"gene","entity_name":"HIBCH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26026795","25251209","24299452","32677093"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620"],"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":["CaT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14006","gene_name":"transient receptor potential cation channel subfamily V member 6","omim_gene":["606680"],"alias_name":null,"gene_symbol":"TRPV6","hgnc_symbol":"TRPV6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:142568956-142583507","ensembl_id":"ENSG00000165125"}},"GRch38":{"90":{"location":"7:142871203-142885762","ensembl_id":"ENSG00000165125"}}},"hgnc_date_symbol_changed":"2002-02-01"},"entity_type":"gene","entity_name":"TRPV6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32383311","31930989","29861107"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hyperparathyroidism, transient neonatal, MIM#618188"],"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":["VLCAD","LCACD","ACAD6"],"biotype":"protein_coding","hgnc_id":"HGNC:92","gene_name":"acyl-CoA dehydrogenase very long chain","omim_gene":["609575"],"alias_name":null,"gene_symbol":"ACADVL","hgnc_symbol":"ACADVL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7120444-7128592","ensembl_id":"ENSG00000072778"}},"GRch38":{"90":{"location":"17:7217125-7225273","ensembl_id":"ENSG00000072778"}}},"hgnc_date_symbol_changed":"1996-05-30"},"entity_type":"gene","entity_name":"ACADVL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31372341, 32885845"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["VLCAD deficiency, 201475 (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":["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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene","BeginNGS"],"phenotypes":["Maple syrup urine disease, type III, MIM#246900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CYP11BL","CPN2","P-450C18","P450aldo","ALDOS"],"biotype":"protein_coding","hgnc_id":"HGNC:2592","gene_name":"cytochrome P450 family 11 subfamily B member 2","omim_gene":["124080"],"alias_name":["steroid 11-beta-monooxygenase"],"gene_symbol":"CYP11B2","hgnc_symbol":"CYP11B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:143991975-143999259","ensembl_id":"ENSG00000179142"}},"GRch38":{"90":{"location":"8:142910559-142917843","ensembl_id":"ENSG00000179142"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"CYP11B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9360501","9814506","12788848","8439335","8772616","15240589"],"evidence":["Expert Review Green","KidGen_AldoHypertension v38.1.0"],"phenotypes":["Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RMRPR","RRP2","NME1"],"biotype":null,"hgnc_id":"HGNC:10031","gene_name":"RNA component of mitochondrial RNA processing endoribonuclease","omim_gene":["157660"],"alias_name":null,"gene_symbol":"RMRP","hgnc_symbol":"RMRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35657748-35658015","ensembl_id":"ENSG00000269900"}},"GRch38":{"90":{"location":"9:35657751-35658018","ensembl_id":"ENSG00000269900"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RMRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16244706","21396580","22420014","11940090","16252239"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cartilage-hair hypoplasia MIM#250250","Anauxetic dysplasia 1, MIM#607095","Metaphyseal dysplasia without hypotrichosis MIM#250460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DPCK","NBP","CoASY","PPAT"],"biotype":"protein_coding","hgnc_id":"HGNC:29932","gene_name":"Coenzyme A synthase","omim_gene":["609855"],"alias_name":null,"gene_symbol":"COASY","hgnc_symbol":"COASY","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:40713485-40718295","ensembl_id":"ENSG00000068120"}},"GRch38":{"90":{"location":"17:42561467-42566277","ensembl_id":"ENSG00000068120"}}},"hgnc_date_symbol_changed":"2004-03-22"},"entity_type":"gene","entity_name":"COASY","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24360804, 28489334, 27021474"],"evidence":["Expert Review Green"],"phenotypes":["neurodegeneration with brain iron accumulation 6 MONDO:0014290","Disorders of pantothenate and CoA metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H_DJ0042M02.9","HNPCC4","MLH4"],"biotype":"protein_coding","hgnc_id":"HGNC:9122","gene_name":"PMS1 homolog 2, mismatch repair system component","omim_gene":["600259"],"alias_name":null,"gene_symbol":"PMS2","hgnc_symbol":"PMS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:6012870-6048756","ensembl_id":"ENSG00000122512"}},"GRch38":{"90":{"location":"7:5973239-6009125","ensembl_id":"ENSG00000122512"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"PMS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Endometrial cancer, MONDO:0011962","Lynch syndrome 4, MONDO:0013699","Mismatch repair cancer syndrome 4, MONDO:0030843","Lynch syndrome 4, MIM#614337","Mismatch repair cancer syndrome 4, MIM#619101"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4373,"hash_id":null,"name":"Endometrial Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:28:51.012692+11:00","relevant_disorders":[],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:13485","gene_name":"ubiquitin specific peptidase 26","omim_gene":["300309"],"alias_name":null,"gene_symbol":"USP26","hgnc_symbol":"USP26","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:132158659-132231137","ensembl_id":"ENSG00000134588"}},"GRch38":{"90":{"location":"X:133024631-133097109","ensembl_id":"ENSG00000134588"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"USP26","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34202084","27089915"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Spermatogenic failure, X-linked 6, MIM# 301101"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["27068427"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750","Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM#613571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}