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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":["HD4ST","D4ST-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24464","gene_name":"carbohydrate sulfotransferase 14","omim_gene":["608429"],"alias_name":null,"gene_symbol":"CHST14","hgnc_symbol":"CHST14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:40763160-40765353","ensembl_id":"ENSG00000169105"}},"GRch38":{"90":{"location":"15:40470998-40474571","ensembl_id":"ENSG00000169105"}}},"hgnc_date_symbol_changed":"2007-03-27"},"entity_type":"gene","entity_name":"CHST14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28306229","25703627","26373698"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ehlers-Danlos syndrome, musculocontractural type 1 MIM# 601776"],"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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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:9498","gene_name":"prosaposin","omim_gene":["176801"],"alias_name":["variant Gaucher disease and variant metachromatic leukodystrophy"],"gene_symbol":"PSAP","hgnc_symbol":"PSAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:73576055-73611126","ensembl_id":"ENSG00000197746"}},"GRch38":{"90":{"location":"10:71816298-71851375","ensembl_id":"ENSG00000197746"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PSAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32201884"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Parkinson disease, AD","Combined SAP deficiency, MIM# 611721","Encephalopathy due to prosaposin deficiency, MONDO:0012719","Krabbe disease, atypical, MIM# 611722","MONDO:0012720","Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900","MONDO:0009590","Gaucher disease, atypical, MIM# 610539","MONDO:0012517"],"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":null},{"gene_data":{"alias":["GLYT2"],"biotype":"protein_coding","hgnc_id":"HGNC:11051","gene_name":"solute carrier family 6 member 5","omim_gene":["604159"],"alias_name":["glycine transporter 2"],"gene_symbol":"SLC6A5","hgnc_symbol":"SLC6A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:20620946-20680831","ensembl_id":"ENSG00000165970"}},"GRch38":{"90":{"location":"11:20599400-20659285","ensembl_id":"ENSG00000165970"}}},"hgnc_date_symbol_changed":"1997-12-05"},"entity_type":"gene","entity_name":"SLC6A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31604777","30847549","29859229","16751771"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyperekplexia 3, MIM# 614618"],"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":null},{"gene_data":{"alias":["TN","MGC167029"],"biotype":"protein_coding","hgnc_id":"HGNC:5318","gene_name":"tenascin C","omim_gene":["187380"],"alias_name":["hexabrachion (tenascin)"],"gene_symbol":"TNC","hgnc_symbol":"TNC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:117782806-117880536","ensembl_id":"ENSG00000041982"}},"GRch38":{"90":{"location":"9:115019578-115118257","ensembl_id":"ENSG00000041982"}}},"hgnc_date_symbol_changed":"2002-06-07"},"entity_type":"gene","entity_name":"TNC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23936043","34093110","33763067","40203778","39720982","39020321","38640279","35062939"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 56, MIM# 615629"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":["KIAA0610","TAHCCP1"],"biotype":"protein_coding","hgnc_id":"HGNC:18514","gene_name":"spartin","omim_gene":["607111"],"alias_name":["spartin"],"gene_symbol":"SPART","hgnc_symbol":"SPART","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:36875775-36944317","ensembl_id":"ENSG00000133104"}},"GRch38":{"90":{"location":"13:36301638-36370180","ensembl_id":"ENSG00000133104"}}},"hgnc_date_symbol_changed":"2017-05-30"},"entity_type":"gene","entity_name":"SPART","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12134148","20437587","26003402","27112432","31535723","31535723","28875386","28679690"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Troyer syndrome, MIM# 275900","SPG20","MONDO:0010156"],"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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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":["DAM1","SPF27","Snt309"],"biotype":"protein_coding","hgnc_id":"HGNC:975","gene_name":"BCAS2, pre-mRNA processing factor","omim_gene":["605783"],"alias_name":["DNA amplified in mammary carcinoma 1"],"gene_symbol":"BCAS2","hgnc_symbol":"BCAS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:115110178-115124260","ensembl_id":"ENSG00000116752"}},"GRch38":{"90":{"location":"1:114567557-114581639","ensembl_id":"ENSG00000116752"}}},"hgnc_date_symbol_changed":"2000-01-31"},"entity_type":"gene","entity_name":"BCAS2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40585763"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Hyper IgM syndrome, MONDO:0003947, BCAS2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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:4023","gene_name":"FMR1 autosomal homolog 1","omim_gene":["600819"],"alias_name":null,"gene_symbol":"FXR1","hgnc_symbol":"FXR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180585929-180700541","ensembl_id":"ENSG00000114416"}},"GRch38":{"90":{"location":"3:180868141-180982753","ensembl_id":"ENSG00000114416"}}},"hgnc_date_symbol_changed":"1999-04-16"},"entity_type":"gene","entity_name":"FXR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30770808"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Congenital multi-minicore myopathy","myopathy, congenital proximal, with minicore lesions MONDO:0032937"],"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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deficiencies within the lysosome. The abnormal storage process leads to a broad spectrum of somatic and/or neurological clinical manifestations depending on the specific substrate and site of accumulation. Examples include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses.\r\n\r\nIf the clinical presentation is not specific for a lysosomal storage disorder, please consider the broader Metabolic Disorders Superpanel.","status":"public","version":"1.31","version_created":"2026-03-31T16:05:25.488597+11:00","relevant_disorders":["Lysosomal storage disorder","MONDO:0002561; Visceromegaly","HP:0003271"],"stats":{"number_of_genes":80,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-87","TTC-15"],"biotype":"protein_coding","hgnc_id":"HGNC:24284","gene_name":"trafficking protein particle complex 12","omim_gene":["614139"],"alias_name":null,"gene_symbol":"TRAPPC12","hgnc_symbol":"TRAPPC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:3383446-3488865","ensembl_id":"ENSG00000171853"}},"GRch38":{"90":{"location":"2:3379675-3485094","ensembl_id":"ENSG00000171853"}}},"hgnc_date_symbol_changed":"2011-12-12"},"entity_type":"gene","entity_name":"TRAPPC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28777934"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, MIM#617669"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H2","H3","H4","H5","CEK","FLG","BFGFR","N-SAM","CD331"],"biotype":"protein_coding","hgnc_id":"HGNC:3688","gene_name":"fibroblast growth factor receptor 1","omim_gene":["136350"],"alias_name":["Pfeiffer syndrome"],"gene_symbol":"FGFR1","hgnc_symbol":"FGFR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38268656-38326352","ensembl_id":"ENSG00000077782"}},"GRch38":{"90":{"location":"8:38411138-38468834","ensembl_id":"ENSG00000077782"}}},"hgnc_date_symbol_changed":"1992-02-25"},"entity_type":"gene","entity_name":"FGFR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26937548","31512363","23812909","26931467"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hartsfield syndrome\t(MIM#615465)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA504H3.4","DDK1"],"biotype":"protein_coding","hgnc_id":"HGNC:16205","gene_name":"mitochondrial genome maintenance exonuclease 1","omim_gene":["615076"],"alias_name":null,"gene_symbol":"MGME1","hgnc_symbol":"MGME1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:17949556-17971765","ensembl_id":"ENSG00000125871"}},"GRch38":{"90":{"location":"20:17968913-17991122","ensembl_id":"ENSG00000125871"}}},"hgnc_date_symbol_changed":"2013-01-11"},"entity_type":"gene","entity_name":"MGME1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23313956","29572490","28711739"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial DNA depletion syndrome 11, MIM# 615084"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10980","gene_name":"solute carrier family 25 member 10","omim_gene":["606794"],"alias_name":null,"gene_symbol":"SLC25A10","hgnc_symbol":"SLC25A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79670404-79688042","ensembl_id":"ENSG00000183048"}},"GRch38":{"90":{"location":"17:81712236-81721016","ensembl_id":"ENSG00000183048"}}},"hgnc_date_symbol_changed":"1998-07-08"},"entity_type":"gene","entity_name":"SLC25A10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["29211846"],"evidence":["Expert Review Amber","NHS GMS"],"phenotypes":["Intractable epileptic encephalopathy","Mitochondrial DNA depletion syndrome 19, MIM# 618972"],"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":["MGC15668","4-HPPD-L"],"biotype":"protein_coding","hgnc_id":"HGNC:28242","gene_name":"4-hydroxyphenylpyruvate dioxygenase like","omim_gene":null,"alias_name":null,"gene_symbol":"HPDL","hgnc_symbol":"HPDL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45792545-45794347","ensembl_id":"ENSG00000186603"}},"GRch38":{"90":{"location":"1:45326905-45328533","ensembl_id":"ENSG00000186603"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"HPDL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32707086"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026","Progressive neurological disorder","Leigh-like syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnQ"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7495","gene_name":"mitochondrially encoded tRNA glutamine","omim_gene":["590030"],"alias_name":null,"gene_symbol":"MT-TQ","hgnc_symbol":"MT-TQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}},"GRch38":{"90":{"location":"MT:4329-4400","ensembl_id":"ENSG00000210107"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TQ","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["11171912","10996779","17003408","11335700"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TQ-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CAGL85","Beta3","bHLHe22"],"biotype":"protein_coding","hgnc_id":"HGNC:11963","gene_name":"basic helix-loop-helix family member e22","omim_gene":["613483"],"alias_name":null,"gene_symbol":"BHLHE22","hgnc_symbol":"BHLHE22","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:65492814-65496181","ensembl_id":"ENSG00000180828"}},"GRch38":{"90":{"location":"8:64580367-64583628","ensembl_id":"ENSG00000180828"}}},"hgnc_date_symbol_changed":"2009-01-12"},"entity_type":"gene","entity_name":"BHLHE22","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39502664"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, BHLHE22-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["AADC"],"biotype":"protein_coding","hgnc_id":"HGNC:2719","gene_name":"dopa decarboxylase","omim_gene":["107930"],"alias_name":["aromatic L-amino acid decarboxylase"],"gene_symbol":"DDC","hgnc_symbol":"DDC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:50526134-50633154","ensembl_id":"ENSG00000132437"}},"GRch38":{"90":{"location":"7:50458436-50565457","ensembl_id":"ENSG00000132437"}}},"hgnc_date_symbol_changed":"1991-06-03"},"entity_type":"gene","entity_name":"DDC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Gsh4"],"biotype":"protein_coding","hgnc_id":"HGNC:21734","gene_name":"LIM homeobox 4","omim_gene":["602146"],"alias_name":null,"gene_symbol":"LHX4","hgnc_symbol":"LHX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:180199421-180249380","ensembl_id":"ENSG00000121454"}},"GRch38":{"90":{"location":"1:180230286-180278982","ensembl_id":"ENSG00000121454"}}},"hgnc_date_symbol_changed":"2003-07-21"},"entity_type":"gene","entity_name":"LHX4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Pituitary hormone deficiency, combined, 4, MIM# 262700"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OTRPC4","TRP12","VROAC","VRL-2","VR-OAC","CMT2C"],"biotype":"protein_coding","hgnc_id":"HGNC:18083","gene_name":"transient receptor potential cation channel subfamily V member 4","omim_gene":["605427"],"alias_name":["osmosensitive transient receptor potential channel 4"],"gene_symbol":"TRPV4","hgnc_symbol":"TRPV4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110220890-110271212","ensembl_id":"ENSG00000111199"}},"GRch38":{"90":{"location":"12:109783085-109833401","ensembl_id":"ENSG00000111199"}}},"hgnc_date_symbol_changed":"2002-01-29"},"entity_type":"gene","entity_name":"TRPV4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31393079","24789864","22675077","31468327","20460441","15925108"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Auditory neuropathy spectrum disorder","Charcot-Marie-Tooth disease axonal type 2C, MONDO:0011633","Hearing loss"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":209,"hash_id":null,"name":"Deafness_IsolatedAndComplex","disease_group":"Hearing and ear disorders","disease_sub_group":"","description":"This panel contains genes associated with:\r\n1) Isolated deafness\r\n2) Syndromic deafness \r\n3) Auditory neuropathy spectrum \r\n\r\nAuditory neuropathy spectrum presents with absent or markedly abnormal auditory nerve function measures, such as auditory brainstem response (ABR), and normal measures of sensory hair cell function, such as otoacoustic emissions and cochlear microphonics. \r\n\r\nThis panel was originally designed for the Melbourne Genomics Congenital Deafness Flagship. With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.359","version_created":"2026-04-03T14:38:51.840380+11:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAF"],"biotype":"protein_coding","hgnc_id":"HGNC:3587","gene_name":"Fanconi anemia complementation group F","omim_gene":["613897"],"alias_name":null,"gene_symbol":"FANCF","hgnc_symbol":"FANCF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22644079-22647387","ensembl_id":"ENSG00000183161"}},"GRch38":{"90":{"location":"11:22622519-22626787","ensembl_id":"ENSG00000183161"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Fanconi anaemia, complementation group F 603467"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. The genes included are associated with conditions that are adult-onset, clinically-actionable, have a known management pathway which is publicly funded in Victoria, and have a population frequency of gene variants greater than 1/100,000.\r\n\r\nThis has been updated with the 2023 ACMG V3.2 Secondary Findings list, PMID: 37347242.\r\n\r\nV1.0 was used for the Australian Genomics Acute Care additional findings study.\r\n\r\nThe panel has been updated with ClinGen Adult Actionability assertions.","status":"public","version":"2.0","version_created":"2026-03-16T10:56:03.168206+11:00","relevant_disorders":[],"stats":{"number_of_genes":136,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FHR5","FHR-5"],"biotype":"protein_coding","hgnc_id":"HGNC:24668","gene_name":"complement factor H related 5","omim_gene":["608593"],"alias_name":["factor H related protein 5"],"gene_symbol":"CFHR5","hgnc_symbol":"CFHR5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196946667-196978804","ensembl_id":"ENSG00000134389"}},"GRch38":{"90":{"location":"1:196977556-197009674","ensembl_id":"ENSG00000134389"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Nephropathy due to CFHR5 deficiency, MIM# 614809"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":224,"hash_id":null,"name":"Complement Deficiencies","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains all the genes that are associated with complement deficiencies.\r\n\r\nIt has been updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.2","version_created":"2025-10-30T13:50:05.331358+11:00","relevant_disorders":["Abnormality of complement system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FI","C3b-INA","KAF"],"biotype":"protein_coding","hgnc_id":"HGNC:5394","gene_name":"complement factor I","omim_gene":["217030"],"alias_name":["Konglutinogen-activating factor","C3b-inactivator"],"gene_symbol":"CFI","hgnc_symbol":"CFI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:110661852-110723335","ensembl_id":"ENSG00000205403"}},"GRch38":{"90":{"location":"4:109740694-109802179","ensembl_id":"ENSG00000205403"}}},"hgnc_date_symbol_changed":"2006-02-10"},"entity_type":"gene","entity_name":"CFI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review 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system","HP:0005339"],"stats":{"number_of_genes":34,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0209"],"biotype":"protein_coding","hgnc_id":"HGNC:2988","gene_name":"dedicator of cytokinesis 2","omim_gene":["603122"],"alias_name":null,"gene_symbol":"DOCK2","hgnc_symbol":"DOCK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169064251-169510386","ensembl_id":"ENSG00000134516"}},"GRch38":{"90":{"location":"5:169637247-170083382","ensembl_id":"ENSG00000134516"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 36836791"],"evidence":["Expert Review Amber","Literature","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Genetic hemophagocytic lymphohistiocytosis MONDO:0015541"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ASK","chif","ZDBF1","DBF4A"],"biotype":"protein_coding","hgnc_id":"HGNC:17364","gene_name":"DBF4 zinc finger","omim_gene":["604281"],"alias_name":["activator of S phase kinase","chiffon homolog (Drosophila)","zinc finger, DBF-type containing 1","DBF4 zinc finger 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Susceptibility to infection from phagocytic dysfunction ranges from mild, recurrent skin infections to overwhelming, fatal systemic infection. Affected individuals are more susceptible to bacterial and fungal infections but have a normal resistance to viral infections. Most are diagnosed in infancy due to the severity of the infection or the unusual presentation of the organism, but some are diagnosed in adulthood. Includes:\r\n- Congenital Neutropenias\r\n- Defects of Motility\r\n- Defects of Respiratory Burst\r\n- Other Non-Lymphoid Defects\r\n\r\nUpdated with the 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications. \r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).\r\n\r\nThis panel was merged with and replaces the Melbourne Genomics Immunology Flagship Neutrophil Defects gene panel (22/03/2021).","status":"public","version":"1.45","version_created":"2025-12-15T10:26:57.519304+11:00","relevant_disorders":["Unusual infection","HP:0032101"],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p16-Arc","ARC16","dJ127C7.3"],"biotype":"protein_coding","hgnc_id":"HGNC:708","gene_name":"actin related protein 2/3 complex subunit 5","omim_gene":["604227"],"alias_name":["Arp2/3 protein complex subunit p16"],"gene_symbol":"ARPC5","hgnc_symbol":"ARPC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183592401-183604892","ensembl_id":"ENSG00000162704"}},"GRch38":{"90":{"location":"1:183620846-183635757","ensembl_id":"ENSG00000162704"}}},"hgnc_date_symbol_changed":"1999-08-06"},"entity_type":"gene","entity_name":"ARPC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37349293","37382373"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Literature","Literature"],"phenotypes":["Immunodeficiency 133 with autoimmunity and autoinflammation, MIM# 620565"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":238,"hash_id":null,"name":"Autoinflammatory Disorders","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes associated with systemic autoinflammatory diseases and periodic fever, including the following:\r\n- Defects affecting the inflammasome\r\n- Non-inflammasome related conditions\r\n- Type 1 Interferonopathies\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Fiona Moghaddas and Dr Seth Masters (Walter and Eliza Hall Institute).","status":"public","version":"2.46","version_created":"2026-03-16T12:22:08.572710+11:00","relevant_disorders":["Fever HP:0001945;Systemic autoinflammation HP:0033428"],"stats":{"number_of_genes":108,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD137","4-1BB"],"biotype":"protein_coding","hgnc_id":"HGNC:11924","gene_name":"TNF receptor superfamily member 9","omim_gene":["602250"],"alias_name":null,"gene_symbol":"TNFRSF9","hgnc_symbol":"TNFRSF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:7979907-8000926","ensembl_id":"ENSG00000049249"}},"GRch38":{"90":{"location":"1:7915894-7943165","ensembl_id":"ENSG00000049249"}}},"hgnc_date_symbol_changed":"1996-06-12"},"entity_type":"gene","entity_name":"TNFRSF9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BTLA1","CD272"],"biotype":"protein_coding","hgnc_id":"HGNC:21087","gene_name":"B and T lymphocyte associated","omim_gene":["607925"],"alias_name":null,"gene_symbol":"BTLA","hgnc_symbol":"BTLA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:112182815-112218408","ensembl_id":"ENSG00000186265"}},"GRch38":{"90":{"location":"3:112463968-112499561","ensembl_id":"ENSG00000186265"}}},"hgnc_date_symbol_changed":"2003-08-20"},"entity_type":"gene","entity_name":"BTLA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["umccr"],"panel":{"id":243,"hash_id":null,"name":"Immune_markers_WTS_UMCCR","disease_group":"Cancer","disease_sub_group":"","description":"Author: Jacek Marzec, jacek.marzec@unimelb.edu.au\r\n\r\nPurpose: panel of immune markers used to assess pre-existing anti-cancer immunity and likelihood of response to immunotherapy. This set of genes is used in UMCCR WTS report \"Immune markers\" section\r\n\r\nSource: https://www.omniseq.com\r\n\r\nGithub: https://github.com/umccr/RNAsum","status":"public","version":"0.77","version_created":"2025-11-03T15:30:48.145923+11:00","relevant_disorders":[],"stats":{"number_of_genes":71,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TMC","MGC9042","STT3-A"],"biotype":"protein_coding","hgnc_id":"HGNC:6172","gene_name":"STT3A, catalytic subunit of the oligosaccharyltransferase complex","omim_gene":["601134"],"alias_name":["dolichyl-diphosphooligosaccharide protein glycotransferase"],"gene_symbol":"STT3A","hgnc_symbol":"STT3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125461607-125495110","ensembl_id":"ENSG00000134910"}},"GRch38":{"90":{"location":"11:125591712-125625215","ensembl_id":"ENSG00000134910"}}},"hgnc_date_symbol_changed":"2006-02-07"},"entity_type":"gene","entity_name":"STT3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23842455","30701557","28424003","34653363"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Congenital disorder of glycosylation, type Iw, AR, OMIM #615596","Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4332","gene_name":"BRD4 interacting chromatin remodeling complex associated protein","omim_gene":["605690"],"alias_name":null,"gene_symbol":"BICRA","hgnc_symbol":"BICRA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:48111453-48206533","ensembl_id":"ENSG00000063169"}},"GRch38":{"90":{"location":"19:47608196-47703277","ensembl_id":"ENSG00000063169"}}},"hgnc_date_symbol_changed":"2017-03-21"},"entity_type":"gene","entity_name":"BICRA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33232675"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Coffin-Siris syndrome-12, MIM#619325","Developmental delay, intellectual disability, autism spectrum disorder,behavioral abnormalities, dysmorphic features"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","version_created":"2026-04-03T15:53:29.044094+11:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2523,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NY-REN-58","NPHP18"],"biotype":"protein_coding","hgnc_id":"HGNC:17966","gene_name":"centrosomal protein 83","omim_gene":["615847"],"alias_name":null,"gene_symbol":"CEP83","hgnc_symbol":"CEP83","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:94700225-94853764","ensembl_id":"ENSG00000173588"}},"GRch38":{"90":{"location":"12:94306449-94459988","ensembl_id":"ENSG00000173588"}}},"hgnc_date_symbol_changed":"2014-03-06"},"entity_type":"gene","entity_name":"CEP83","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24882706","33938610"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Nephronophthisis 18, MIM# 615862","MONDO:0014374","Retinal dystrophy","ID"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GTPCH1","DYT5a"],"biotype":"protein_coding","hgnc_id":"HGNC:4193","gene_name":"GTP cyclohydrolase 1","omim_gene":["600225"],"alias_name":["dopa-responsive dystonia"],"gene_symbol":"GCH1","hgnc_symbol":"GCH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:55308726-55369570","ensembl_id":"ENSG00000131979"}},"GRch38":{"90":{"location":"14:54842008-54902852","ensembl_id":"ENSG00000131979"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"GCH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21935284","24509643","33713342"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital"],"phenotypes":["Hereditary spastic paraplegia MONDO:0019064, GCH1-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4065","gene_name":"glucosidase alpha, acid","omim_gene":["606800"],"alias_name":["Pompe disease","glycogen storage disease type II"],"gene_symbol":"GAA","hgnc_symbol":"GAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78075355-78093678","ensembl_id":"ENSG00000171298"}},"GRch38":{"90":{"location":"17:80101556-80119879","ensembl_id":"ENSG00000171298"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29880332"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Glycogen storage disease II\t232300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"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":["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":["9546340","24263034"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["VLCAD deficiency 201475"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21065","DRAG1"],"biotype":"protein_coding","hgnc_id":"HGNC:24097","gene_name":"ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3","omim_gene":["606647"],"alias_name":null,"gene_symbol":"ARAP3","hgnc_symbol":"ARAP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:141032968-141061788","ensembl_id":"ENSG00000120318"}},"GRch38":{"90":{"location":"5:141653401-141682221","ensembl_id":"ENSG00000120318"}}},"hgnc_date_symbol_changed":"2008-09-22"},"entity_type":"gene","entity_name":"ARAP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["32908855"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["Lymphoedema, MONDO:0019297, ARAP3-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and syndromic lymphoedema.","status":"public","version":"0.32","version_created":"2026-02-06T22:04:55.315713+11:00","relevant_disorders":["Lymphedema","HP:0001004"],"stats":{"number_of_genes":59,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9988","gene_name":"regulatory factor X associated protein","omim_gene":["601861"],"alias_name":null,"gene_symbol":"RFXAP","hgnc_symbol":"RFXAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:37393361-37403241","ensembl_id":"ENSG00000133111"}},"GRch38":{"90":{"location":"13:36819224-36829104","ensembl_id":"ENSG00000133111"}}},"hgnc_date_symbol_changed":"1997-11-05"},"entity_type":"gene","entity_name":"RFXAP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Bare lymphocyte syndrome, type II, complementation group D, 209920 (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":["bA351K16.3","FLJ20627","RMD1"],"biotype":"protein_coding","hgnc_id":"HGNC:21176","gene_name":"required for meiotic nuclear division 1 homolog","omim_gene":["614917"],"alias_name":null,"gene_symbol":"RMND1","hgnc_symbol":"RMND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:151725989-151773259","ensembl_id":"ENSG00000155906"}},"GRch38":{"90":{"location":"6:151404763-151452181","ensembl_id":"ENSG00000155906"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"RMND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 11, 614922 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3437","gene_name":"ERCC excision repair 5, endonuclease","omim_gene":["133530"],"alias_name":["Cockayne syndrome"],"gene_symbol":"ERCC5","hgnc_symbol":"ERCC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:103497194-103528345","ensembl_id":"ENSG00000134899"}},"GRch38":{"90":{"location":"13:102844844-102876001","ensembl_id":"ENSG00000134899"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Xeroderma pigmentosum"],"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":["CARMA1","BIMP3"],"biotype":"protein_coding","hgnc_id":"HGNC:16393","gene_name":"caspase recruitment domain family member 11","omim_gene":["607210"],"alias_name":["card-maguk protein 1","bcl10-interacting maguk protein 3"],"gene_symbol":"CARD11","hgnc_symbol":"CARD11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:2945775-3083579","ensembl_id":"ENSG00000198286"}},"GRch38":{"90":{"location":"7:2906141-3043945","ensembl_id":"ENSG00000198286"}}},"hgnc_date_symbol_changed":"2001-08-13"},"entity_type":"gene","entity_name":"CARD11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["23561803","12818158","23374270","28628108"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 11A, MIM#\t615206"],"mode_of_inheritance":"BOTH monoallelic and 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":[]},{"gene_data":{"alias":["Miner1","ERIS","NAF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:24212","gene_name":"CDGSH iron sulfur domain 2","omim_gene":["611507"],"alias_name":["mitoNEET related 1","endoplasmic reticulum intermembrane small protein","nutrient-deprivation autophagy factor-1"],"gene_symbol":"CISD2","hgnc_symbol":"CISD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:103790135-103810399","ensembl_id":"ENSG00000145354"}},"GRch38":{"90":{"location":"4:102868978-102889242","ensembl_id":"ENSG00000145354"}}},"hgnc_date_symbol_changed":"2007-08-10"},"entity_type":"gene","entity_name":"CISD2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Wolfram syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0384","p120","p120cas","p120ctn"],"biotype":"protein_coding","hgnc_id":"HGNC:2515","gene_name":"catenin delta 1","omim_gene":["601045"],"alias_name":null,"gene_symbol":"CTNND1","hgnc_symbol":"CTNND1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:57520715-57587018","ensembl_id":"ENSG00000198561"}},"GRch38":{"90":{"location":"11:57753243-57819546","ensembl_id":"ENSG00000198561"}}},"hgnc_date_symbol_changed":"1995-09-18"},"entity_type":"gene","entity_name":"CTNND1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28301459","32196547"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Blepharocheilodontic syndrome 2, MIM# 617681"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC8685","DKFZp566F223","bA506K6.1"],"biotype":"protein_coding","hgnc_id":"HGNC:30829","gene_name":"tubulin beta 2B class IIb","omim_gene":["612850"],"alias_name":["class IIb beta-tubulin"],"gene_symbol":"TUBB2B","hgnc_symbol":"TUBB2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:3224495-3231964","ensembl_id":"ENSG00000137285"}},"GRch38":{"90":{"location":"6:3224261-3231730","ensembl_id":"ENSG00000137285"}}},"hgnc_date_symbol_changed":"2005-11-03"},"entity_type":"gene","entity_name":"TUBB2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23001566","11425694"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Fibrosis of extraocular muscles, congenital","Cortical dysplasia, complex, with other brain malformations 7"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7010","gene_name":"menin 1","omim_gene":["613733"],"alias_name":["menin"],"gene_symbol":"MEN1","hgnc_symbol":"MEN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64570982-64578766","ensembl_id":"ENSG00000133895"}},"GRch38":{"90":{"location":"11:64803510-64811294","ensembl_id":"ENSG00000133895"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MEN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4455","gene_name":"glycerol-3-phosphate dehydrogenase 1","omim_gene":["138420"],"alias_name":null,"gene_symbol":"GPD1","hgnc_symbol":"GPD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:50497602-50505102","ensembl_id":"ENSG00000167588"}},"GRch38":{"90":{"location":"12:50103819-50111319","ensembl_id":"ENSG00000167588"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GPD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32591995","22226083","33447932"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Hypertriglyceridemia, transient infantile MIM#614480","glycerol-3-phosphate dehydrogenase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CEK2","JTK4","CD333"],"biotype":"protein_coding","hgnc_id":"HGNC:3690","gene_name":"fibroblast growth factor receptor 3","omim_gene":["134934"],"alias_name":null,"gene_symbol":"FGFR3","hgnc_symbol":"FGFR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:1795034-1810599","ensembl_id":"ENSG00000068078"}},"GRch38":{"90":{"location":"4:1793307-1808872","ensembl_id":"ENSG00000068078"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"FGFR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20199409","17935505","11426459","31016899"],"evidence":["Expert Review Green","Genomics England PanelApp","Radboud University Medical Center, Nijmegen","Eligibility statement prior genetic testing","UKGTN"],"phenotypes":["Crouzon syndrome with acanthosis nigricans\t612247"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3498,"hash_id":null,"name":"Choanal atresia","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.","status":"public","version":"1.6","version_created":"2024-10-03T11:49:26.278825+10:00","relevant_disorders":["Choanal atresia HP:0000453"],"stats":{"number_of_genes":16,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAI","IASPP"],"biotype":"protein_coding","hgnc_id":"HGNC:18838","gene_name":"protein phosphatase 1 regulatory subunit 13 like","omim_gene":["607463"],"alias_name":null,"gene_symbol":"PPP1R13L","hgnc_symbol":"PPP1R13L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45882892-45909607","ensembl_id":"ENSG00000104881"}},"GRch38":{"90":{"location":"19:45379634-45406349","ensembl_id":"ENSG00000104881"}}},"hgnc_date_symbol_changed":"2004-11-26"},"entity_type":"gene","entity_name":"PPP1R13L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32666529","28864777"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519"],"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":["CDC2"],"biotype":"protein_coding","hgnc_id":"HGNC:9175","gene_name":"DNA polymerase delta 1, catalytic subunit","omim_gene":["174761"],"alias_name":["CDC2 homolog (S. cerevisiae)"],"gene_symbol":"POLD1","hgnc_symbol":"POLD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:50887461-50921273","ensembl_id":"ENSG00000062822"}},"GRch38":{"90":{"location":"19:50384204-50418018","ensembl_id":"ENSG00000062822"}}},"hgnc_date_symbol_changed":"1992-02-06"},"entity_type":"gene","entity_name":"POLD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23770608"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 615381"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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","Genomics England PanelApp"],"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":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":["RETL1","GDNFR","GFR-ALPHA-1","RET1L","TRNR1"],"biotype":"protein_coding","hgnc_id":"HGNC:4243","gene_name":"GDNF family receptor alpha 1","omim_gene":["601496"],"alias_name":null,"gene_symbol":"GFRA1","hgnc_symbol":"GFRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:117816444-118032979","ensembl_id":"ENSG00000151892"}},"GRch38":{"90":{"location":"10:116056925-116273467","ensembl_id":"ENSG00000151892"}}},"hgnc_date_symbol_changed":"1997-01-17"},"entity_type":"gene","entity_name":"GFRA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33020172","34737117"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Renal hypodysplasia/aplasia 4, MIM# 619887"],"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":["DKFZp434A128","CILD14","FAP59"],"biotype":"protein_coding","hgnc_id":"HGNC:25244","gene_name":"coiled-coil domain containing 39","omim_gene":["613798"],"alias_name":null,"gene_symbol":"CCDC39","hgnc_symbol":"CCDC39","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180320646-180588793","ensembl_id":"ENSG00000145075"}},"GRch38":{"90":{"location":"3:180602858-180871005","ensembl_id":"ENSG00000145075"}}},"hgnc_date_symbol_changed":"2005-11-11"},"entity_type":"gene","entity_name":"CCDC39","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21131972"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ciliary dyskinesia, primary, 14, 613807 (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":["KIAA1970","MSE1"],"biotype":"protein_coding","hgnc_id":"HGNC:29419","gene_name":"glutamyl-tRNA synthetase 2, mitochondrial","omim_gene":["612799"],"alias_name":["glutamate tRNA ligase 2, mitochondrial"],"gene_symbol":"EARS2","hgnc_symbol":"EARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23533335-23569052","ensembl_id":"ENSG00000103356"}},"GRch38":{"90":{"location":"16:23522014-23557731","ensembl_id":"ENSG00000103356"}}},"hgnc_date_symbol_changed":"2006-04-04"},"entity_type":"gene","entity_name":"EARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["39173847"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 12 MIM#614924"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10586","gene_name":"sodium voltage-gated channel beta subunit 1","omim_gene":["600235"],"alias_name":null,"gene_symbol":"SCN1B","hgnc_symbol":"SCN1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:35521588-35531352","ensembl_id":"ENSG00000105711"}},"GRch38":{"90":{"location":"19:35030466-35040449","ensembl_id":"ENSG00000105711"}}},"hgnc_date_symbol_changed":"1990-05-14"},"entity_type":"gene","entity_name":"SCN1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36291443","31709768"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 52, MIM#617350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. 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It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3579","gene_name":"fumarylacetoacetate hydrolase","omim_gene":["613871"],"alias_name":["fumarylacetoacetase"],"gene_symbol":"FAH","hgnc_symbol":"FAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80444832-80479288","ensembl_id":"ENSG00000103876"}},"GRch38":{"90":{"location":"15:80152490-80186946","ensembl_id":"ENSG00000103876"}}},"hgnc_date_symbol_changed":"1989-06-07"},"entity_type":"gene","entity_name":"FAH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene","BeginNGS"],"phenotypes":["Tyrosinaemia, type I, MIM#276700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CMD1S"],"biotype":"protein_coding","hgnc_id":"HGNC:7577","gene_name":"myosin heavy chain 7","omim_gene":["160760"],"alias_name":null,"gene_symbol":"MYH7","hgnc_symbol":"MYH7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:23881947-23904927","ensembl_id":"ENSG00000092054"}},"GRch38":{"90":{"location":"14:23412738-23435718","ensembl_id":"ENSG00000092054"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MYH7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene","BabySeq Category B gene"],"phenotypes":["Cardiomyopathy, hypertrophic, 1, MIM# 192600"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["cardiac","treatable"],"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":["ED5","EDA3","Edar","ED1R","EDA1R"],"biotype":"protein_coding","hgnc_id":"HGNC:2895","gene_name":"ectodysplasin A receptor","omim_gene":["604095"],"alias_name":null,"gene_symbol":"EDAR","hgnc_symbol":"EDAR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:109510927-109605828","ensembl_id":"ENSG00000135960"}},"GRch38":{"90":{"location":"2:108894471-108989372","ensembl_id":"ENSG00000135960"}}},"hgnc_date_symbol_changed":"1999-08-09"},"entity_type":"gene","entity_name":"EDAR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884","autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2190","gene_name":"collagen type XIII alpha 1 chain","omim_gene":["120350"],"alias_name":null,"gene_symbol":"COL13A1","hgnc_symbol":"COL13A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:71561644-71724031","ensembl_id":"ENSG00000197467"}},"GRch38":{"90":{"location":"10:69801931-69964275","ensembl_id":"ENSG00000197467"}}},"hgnc_date_symbol_changed":"1988-08-05"},"entity_type":"gene","entity_name":"COL13A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BeginNGS"],"phenotypes":["Myasthenic syndrome, congenital, 19, MIM#\t616720"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","neurological"],"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":["KIAA0912","SCKL5","MCPH9"],"biotype":"protein_coding","hgnc_id":"HGNC:29298","gene_name":"centrosomal protein 152","omim_gene":["613529"],"alias_name":["asterless"],"gene_symbol":"CEP152","hgnc_symbol":"CEP152","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:49005125-49103343","ensembl_id":"ENSG00000103995"}},"GRch38":{"90":{"location":"15:48712928-48811146","ensembl_id":"ENSG00000103995"}}},"hgnc_date_symbol_changed":"2005-12-01"},"entity_type":"gene","entity_name":"CEP152","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Microcephaly 9, primary, autosomal recessive, MIM# 614852","Seckel syndrome 5, MIM# 613823"],"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":["Cav1.1","hypoPP"],"biotype":"protein_coding","hgnc_id":"HGNC:1397","gene_name":"calcium voltage-gated channel subunit alpha1 S","omim_gene":["114208"],"alias_name":null,"gene_symbol":"CACNA1S","hgnc_symbol":"CACNA1S","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:201008642-201081694","ensembl_id":"ENSG00000081248"}},"GRch38":{"90":{"location":"1:201039512-201112566","ensembl_id":"ENSG00000081248"}}},"hgnc_date_symbol_changed":"1992-03-27"},"entity_type":"gene","entity_name":"CACNA1S","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance"],"phenotypes":["Malignant hyperthermia susceptibility 5, MIM# 601887"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4126,"hash_id":null,"name":"Transplant Co-Morbidity","disease_group":"Screening","disease_sub_group":"","description":"This panel was built for the Melbourne Genomics Health Alliance Transplant Clinical Change Project. It contains genes from the following panels, that may be actionable in the study cohort:\r\n- cardiomyopathy and arrhythmia adult superpanels\r\n- additional findings adult panel, minus STK11, MUTYH, BTD, OTC, GAA, RPE65\r\n- AD nonsyndromic monogenic diabetes genes\r\n- dyslipidaemia\r\n- osteogenesis imperfecta\r\n- bleeding & platelet disorders\r\n- melanoma","status":"public","version":"0.21","version_created":"2026-01-16T12:00:12.269232+11:00","relevant_disorders":[],"stats":{"number_of_genes":278,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ16107"],"biotype":"protein_coding","hgnc_id":"HGNC:19684","gene_name":"WEE1 homolog 2","omim_gene":["614084"],"alias_name":null,"gene_symbol":"WEE2","hgnc_symbol":"WEE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:141408153-141431071","ensembl_id":"ENSG00000214102"}},"GRch38":{"90":{"location":"7:141708353-141731271","ensembl_id":"ENSG00000214102"}}},"hgnc_date_symbol_changed":"2005-01-21"},"entity_type":"gene","entity_name":"WEE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29606300","30628060","39476306","37772619","36568932","34476630"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oocyte/zygote/embryo maturation arrest 5, MIM# 617996"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["KPL2","FLJ23577","CT122"],"biotype":"protein_coding","hgnc_id":"HGNC:26293","gene_name":"sperm flagellar 2","omim_gene":["610172"],"alias_name":["cancer/testis antigen 122"],"gene_symbol":"SPEF2","hgnc_symbol":"SPEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:35617946-35814713","ensembl_id":"ENSG00000152582"}},"GRch38":{"90":{"location":"5:35617844-35814611","ensembl_id":"ENSG00000152582"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"SPEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31151990","31278745","31048344","39753944","38568462"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 43, MIM# 618751"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":["FSP95","SOB1","AKAP110","CT82"],"biotype":"protein_coding","hgnc_id":"HGNC:373","gene_name":"A-kinase anchoring protein 3","omim_gene":["604689"],"alias_name":["Fibrous Sheath Protein of 95 kDa","cancer/testis antigen 82"],"gene_symbol":"AKAP3","hgnc_symbol":"AKAP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4724674-4758213","ensembl_id":"ENSG00000111254"}},"GRch38":{"90":{"location":"12:4615508-4649047","ensembl_id":"ENSG00000111254"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"AKAP3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35228300","31969357"],"evidence":["Literature","Expert Review Amber","Expert Review Amber","Literature"],"phenotypes":["spermatogenic failure MONDO:0004983"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":[]},{"gene_data":{"alias":["CHK1"],"biotype":"protein_coding","hgnc_id":"HGNC:1925","gene_name":"checkpoint kinase 1","omim_gene":["603078"],"alias_name":null,"gene_symbol":"CHEK1","hgnc_symbol":"CHEK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:125495036-125546150","ensembl_id":"ENSG00000149554"}},"GRch38":{"90":{"location":"11:125625136-125676255","ensembl_id":"ENSG00000149554"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"CHEK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33953335","33948904"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Oocyte/zygote/embryo maturation arrest 21, MIM# 620610"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["D6S504E","ATX1"],"biotype":"protein_coding","hgnc_id":"HGNC:10548","gene_name":"ataxin 1","omim_gene":["601556"],"alias_name":null,"gene_symbol":"ATXN1","hgnc_symbol":"ATXN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:16299343-16761722","ensembl_id":"ENSG00000124788"}},"GRch38":{"90":{"location":"6:16299112-16761491","ensembl_id":"ENSG00000124788"}}},"hgnc_date_symbol_changed":"2004-08-13"},"entity_type":"str","entity_name":"ATXN1_SCA1_CAG","confidence_level":"3","penetrance":null,"publications":["•\tPMID: 24602359"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spinocerebellar Ataxia type 1","Parkinsonism","OMIM 164400"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"CAG","chromosome":"6","grch37_coordinates":[16327867,16327953],"grch38_coordinates":[16327636,16327722],"normal_repeats":36,"pathogenic_repeats":45,"tags":[],"panel":{"id":26,"hash_id":null,"name":"Early-onset Parkinson disease","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause early-onset Parkinson disease and conditions where parkinsonism is a prominent feature. It is maintained by VCGS and RMH.\r\nThe original panel as of 17/11/2019 was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"2.51","version_created":"2026-03-30T11:47:22.375379+11:00","relevant_disorders":["Abnormality of extrapyramidal motor function","HP:0002071"],"stats":{"number_of_genes":129,"number_of_strs":14,"number_of_regions":0},"types":[{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"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":[]}}]}