{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=292","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=290","results":[{"gene_data":{"alias":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 21671375"],"evidence":["Expert Review Amber","Expert list","Literature"],"phenotypes":["Desmosterolosis, MONDO:0011217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":28,"hash_id":null,"name":"Skeletal Dysplasia_Fetal","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel was developed and used by the Melbourne Genomics Perinatal Autopsy Flagship. 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It contains genes that cause isolated craniosynostosis, as well as those that cause complex syndromic or other multi-system disorders where craniosynostosis is a prominent feature.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Craniosynostosis panel and all differences have been resolved, with reciprocal feedback provided to Genomics England 3/7/2020.","status":"public","version":"1.85","version_created":"2026-04-07T13:46:55.940488+10:00","relevant_disorders":["Craniosynostosis HP:0001363"],"stats":{"number_of_genes":105,"number_of_strs":0,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["L35"],"biotype":"protein_coding","hgnc_id":"HGNC:10344","gene_name":"ribosomal protein L35","omim_gene":null,"alias_name":["60S ribosomal protein L35"],"gene_symbol":"RPL35","hgnc_symbol":"RPL35","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:127620159-127624260","ensembl_id":"ENSG00000136942"}},"GRch38":{"90":{"location":"9:124857880-124861981","ensembl_id":"ENSG00000136942"}}},"hgnc_date_symbol_changed":"1999-09-16"},"entity_type":"gene","entity_name":"RPL35","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28280134"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Diamond-Blackfan anemia 19, MIM#\t618312"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":98,"hash_id":null,"name":"Diamond Blackfan anaemia","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nDiamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. Main features are:\r\n-normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow\r\n-growth retardation\r\n-craniofacial, upper limb, heart, and urinary system congenital malformations.\r\n\r\nIncreased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F are typical; however, there is significant variability.\r\n\r\nDBA is caused by variants in the large and small ribosomal protein genes. Deletions are common, and may not be reported as part of some NGS assays.\r\n\r\nPlease also refer to the Bone Marrow Failure, Chromosome Breakage Disorders, and Bleeding and Platelet disorders panels if a broader differential diagnosis is being considered.","status":"public","version":"1.16","version_created":"2026-03-17T20:20:46.699102+11:00","relevant_disorders":["Anemia","HP:0001903; Abnormality of thumb morphology","HP:0001172"],"stats":{"number_of_genes":28,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5102","gene_name":"homeobox A13","omim_gene":["142959"],"alias_name":null,"gene_symbol":"HOXA13","hgnc_symbol":"HOXA13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:27233122-27239725","ensembl_id":"ENSG00000106031"}},"GRch38":{"90":{"location":"7:27193503-27200106","ensembl_id":"ENSG00000106031"}}},"hgnc_date_symbol_changed":"1990-07-05"},"entity_type":"gene","entity_name":"HOXA13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10839976","9020844"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hand-foot-uterus syndrome, MIM# 140000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPR73b","PKR2","GPRg2","dJ680N4.3"],"biotype":"protein_coding","hgnc_id":"HGNC:15836","gene_name":"prokineticin receptor 2","omim_gene":["607123"],"alias_name":null,"gene_symbol":"PROKR2","hgnc_symbol":"PROKR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:5282317-5297378","ensembl_id":"ENSG00000101292"}},"GRch38":{"90":{"location":"20:5302040-5314369","ensembl_id":"ENSG00000101292"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"PROKR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18826963","29161432"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":99,"hash_id":null,"name":"Differences of Sex Development","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with atypical development of the internal and external genitalia, including genes that cause hypogonadotropic hypogonadism.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Disorders of Sex Development', and 'Hypogonadotropic hypogonadism idiopathic' panels, with all differences reviewed and reciprocal feedback provided to Genomics England, 18/6/2020. Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["SFA-1","PETA-3","TSPAN24","RAPH"],"biotype":"protein_coding","hgnc_id":"HGNC:1630","gene_name":"CD151 molecule (Raph blood group)","omim_gene":["602243"],"alias_name":null,"gene_symbol":"CD151","hgnc_symbol":"CD151","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:832843-839831","ensembl_id":"ENSG00000177697"}},"GRch38":{"90":{"location":"11:832843-839831","ensembl_id":"ENSG00000177697"}}},"hgnc_date_symbol_changed":"1997-04-10"},"entity_type":"gene","entity_name":"CD151","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["15265795","29138120"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":101,"hash_id":null,"name":"Epidermolysis bullosa","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause epidermolysis bullosa, as well as genes that cause other blistering and peeling skin disorders. Including those described as EB-related disorders in Has et al 2020 (PMID: 32017015).\r\n\r\nThis panel has been compared against the Genomics England 'Epidermolysis bullosa and congenital skin fragility' with all discrepancies resolved and reciprocal feedback provided to Genomics England, 10/8/2020.\r\n\r\nThis panel was created by merging the panels developed by VCGS and RMH.","status":"public","version":"1.27","version_created":"2026-03-08T22:19:30.435795+11:00","relevant_disorders":["Abnormal blistering of the skin","HP:0008066"],"stats":{"number_of_genes":46,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["bA204B7.2","EPM2B","malin"],"biotype":"protein_coding","hgnc_id":"HGNC:21576","gene_name":"NHL repeat containing E3 ubiquitin protein ligase 1","omim_gene":["608072"],"alias_name":["epilepsy, progressive myoclonus type 2B"],"gene_symbol":"NHLRC1","hgnc_symbol":"NHLRC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:18120718-18122851","ensembl_id":"ENSG00000187566"}},"GRch38":{"90":{"location":"6:18120440-18122687","ensembl_id":"ENSG00000187566"}}},"hgnc_date_symbol_changed":"2003-10-06"},"entity_type":"gene","entity_name":"NHLRC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21505799","12958597"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epilepsy, progressive myoclonic 2B (Lafora) 254780"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":106,"hash_id":null,"name":"Glycogen Storage Diseases","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThe glycogen storage diseases (GSDs) are a group of inherited metabolic disorders caused by deficiency of enzymes involved in the production or breakdown of glycogen. \r\n\r\nThe GSDs can be divided into 4 categories:\r\n1). GSDs predominantly affecting the liver and having a direct influence on blood glucose level (types I, VI, and VIII)\r\n2). GSDs predominantly affecting muscle and having a direct influence on muscle function (types V and VII)\r\n3). a GSD affecting liver and muscle and having a direct influence on blood glucose level and muscle function (type III)\r\n4). GSDs affecting liver, muscle, and other tissues and having no direct effect on blood glucose or muscle function (types II and IV).","status":"public","version":"1.4","version_created":"2025-11-21T17:00:56.134684+11:00","relevant_disorders":["Abnormal hepatic glycogen storage","HP:0500030; Abnormal muscle glycogen content","HP:0012269; Visceromegaly","HP:0003271;Hypoglycemia","HP:0001943"],"stats":{"number_of_genes":29,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:713","gene_name":"arylsulfatase A","omim_gene":["607574"],"alias_name":["metachromatic leucodystrophy"],"gene_symbol":"ARSA","hgnc_symbol":"ARSA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:51061182-51066607","ensembl_id":"ENSG00000100299"}},"GRch38":{"90":{"location":"22:50622754-50628173","ensembl_id":"ENSG00000100299"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ARSA","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Metachromatic leukodystrophy, MIM#\t250100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NY-REN-55","KIAA1901"],"biotype":"protein_coding","hgnc_id":"HGNC:7744","gene_name":"NIMA related kinase 1","omim_gene":["604588"],"alias_name":null,"gene_symbol":"NEK1","hgnc_symbol":"NEK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:170314426-170533780","ensembl_id":"ENSG00000137601"}},"GRch38":{"90":{"location":"4:169392857-169612629","ensembl_id":"ENSG00000137601"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"NEK1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["7491205","15605271"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#\t263520"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GFI1A","GFI-1"],"biotype":"protein_coding","hgnc_id":"HGNC:4237","gene_name":"growth factor independent 1 transcriptional repressor","omim_gene":["600871"],"alias_name":null,"gene_symbol":"GFI1","hgnc_symbol":"GFI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92940319-92952433","ensembl_id":"ENSG00000162676"}},"GRch38":{"90":{"location":"1:92474762-92486876","ensembl_id":"ENSG00000162676"}}},"hgnc_date_symbol_changed":"1994-10-17"},"entity_type":"gene","entity_name":"GFI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12778173","20560965","11810106","22684987"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neutropaenia, severe congenital 2, autosomal dominant, MIM# 613107"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["AP19","SIGMA1A","WUGSC:H_DJ0747G18.2"],"biotype":"protein_coding","hgnc_id":"HGNC:559","gene_name":"adaptor related protein complex 1 sigma 1 subunit","omim_gene":["603531"],"alias_name":["clathrin-associated/assembly/adaptor protein, small 1 (19kD)","clathrin coat assembly protein AP19","sigma1A subunit of AP-1 clathrin adaptor complex","AP-1 complex subunit sigma-1A","sigma1A-adaptin","golgi adaptor HA1/AP1 adaptin sigma-1A subunit","clathrin assembly protein complex 1 sigma-1A small chain","HA1 19 kDa subunit"],"gene_symbol":"AP1S1","hgnc_symbol":"AP1S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:100797678-100804877","ensembl_id":"ENSG00000106367"}},"GRch38":{"90":{"location":"7:101154397-101161596","ensembl_id":"ENSG00000106367"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32306098"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["MEDNIK syndrome 609313","non-syndromic congenital intestinal failure"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["OVCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:3003","gene_name":"diphthamide biosynthesis 1","omim_gene":["603527"],"alias_name":["ovarian tumor suppressor candidate 1"],"gene_symbol":"DPH1","hgnc_symbol":"DPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1933404-1946724","ensembl_id":"ENSG00000108963"}},"GRch38":{"90":{"location":"17:2030110-2043430","ensembl_id":"ENSG00000108963"}}},"hgnc_date_symbol_changed":"2005-06-03"},"entity_type":"gene","entity_name":"DPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29362492","29410513","25558065","26220823"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["STA","LEMD5"],"biotype":"protein_coding","hgnc_id":"HGNC:3331","gene_name":"emerin","omim_gene":["300384"],"alias_name":["LEM domain containing 5"],"gene_symbol":"EMD","hgnc_symbol":"EMD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153607557-153609883","ensembl_id":"ENSG00000102119"}},"GRch38":{"90":{"location":"X:154379197-154381523","ensembl_id":"ENSG00000102119"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"EMD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21697856","31802929"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4736","version_created":"2026-04-11T11:19:25.397495+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":["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":null,"publications":["33020172","34737117"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Renal hypodysplasia/aplasia 4, MIM# 619887"],"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":"1.4736","version_created":"2026-04-11T11:19:25.397495+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:10351","gene_name":"ribosomal protein L3 like","omim_gene":["617416"],"alias_name":null,"gene_symbol":"RPL3L","hgnc_symbol":"RPL3L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1993975-2007607","ensembl_id":"ENSG00000140986"}},"GRch38":{"90":{"location":"16:1943974-1957606","ensembl_id":"ENSG00000140986"}}},"hgnc_date_symbol_changed":"1996-10-18"},"entity_type":"gene","entity_name":"RPL3L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 32514796","32870709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cardiomyopathy, dilated, 2D, MIM# 619371","Neonatal dilated cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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It 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":["DCRC","DSRC"],"biotype":"protein_coding","hgnc_id":"HGNC:3046","gene_name":"phosphatidylinositol glycan anchor biosynthesis class P","omim_gene":["605938"],"alias_name":["phosphatidylinositol-n-acetylglucosaminyltranferase subunit"],"gene_symbol":"PIGP","hgnc_symbol":"PIGP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:38431470-38445470","ensembl_id":"ENSG00000185808"}},"GRch38":{"90":{"location":"21:37059170-37073170","ensembl_id":"ENSG00000185808"}}},"hgnc_date_symbol_changed":"2005-11-10"},"entity_type":"gene","entity_name":"PIGP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28334793","31139695","32042915"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Developmental and epileptic encephalopathy 55, MIM# 617599"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. 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It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NFE1B"],"biotype":"protein_coding","hgnc_id":"HGNC:4171","gene_name":"GATA binding protein 2","omim_gene":["137295"],"alias_name":null,"gene_symbol":"GATA2","hgnc_symbol":"GATA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:128198270-128212028","ensembl_id":"ENSG00000179348"}},"GRch38":{"90":{"location":"3:128479427-128493185","ensembl_id":"ENSG00000179348"}}},"hgnc_date_symbol_changed":"1992-11-03"},"entity_type":"gene","entity_name":"GATA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21670465","21242295","21892158"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982"],"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":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RING10","D6S216E","PSMB5i","beta5i"],"biotype":"protein_coding","hgnc_id":"HGNC:9545","gene_name":"proteasome subunit beta 8","omim_gene":["177046"],"alias_name":null,"gene_symbol":"PSMB8","hgnc_symbol":"PSMB8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:32808494-32812480","ensembl_id":"ENSG00000204264"}},"GRch38":{"90":{"location":"6:32840717-32844703","ensembl_id":"ENSG00000204264"}}},"hgnc_date_symbol_changed":"1992-06-25"},"entity_type":"gene","entity_name":"PSMB8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129723","21881205","21852578","21953331","40666351","https://dx.doi.org/10.2139/ssrn.5370606"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Proteasome-associated autoinflammatory syndrome 1, MIM# 256040","MONDO:0054698"],"mode_of_inheritance":"BOTH monoallelic and 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":null},{"gene_data":{"alias":["RIG-I","FLJ13599","DKFZp434J1111"],"biotype":"protein_coding","hgnc_id":"HGNC:19102","gene_name":"DExD/H-box helicase 58","omim_gene":["609631"],"alias_name":["RNA helicase RIG-I","retinoic acid inducible gene I"],"gene_symbol":"DDX58","hgnc_symbol":"DDX58","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:32455300-32526322","ensembl_id":"ENSG00000107201"}},"GRch38":{"90":{"location":"9:32455705-32526324","ensembl_id":"ENSG00000107201"}}},"hgnc_date_symbol_changed":"2004-05-10"},"entity_type":"gene","entity_name":"DDX58","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","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":["CGI-12","FLJ10939"],"biotype":"protein_coding","hgnc_id":"HGNC:24258","gene_name":"mitochondrial transcription termination factor 3","omim_gene":["616930"],"alias_name":null,"gene_symbol":"MTERF3","hgnc_symbol":"MTERF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97251626-97273838","ensembl_id":"ENSG00000156469"}},"GRch38":{"90":{"location":"8:96239398-96261610","ensembl_id":"ENSG00000156469"}}},"hgnc_date_symbol_changed":"2014-06-26"},"entity_type":"gene","entity_name":"MTERF3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40543543"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MTERF3-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7526","gene_name":"methylmalonyl-CoA mutase","omim_gene":["609058"],"alias_name":null,"gene_symbol":"MUT","hgnc_symbol":"MUT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49398073-49430904","ensembl_id":"ENSG00000146085"}},"GRch38":{"90":{"location":"6:49430360-49463191","ensembl_id":"ENSG00000146085"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MUT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301409","37420116","1977311","11528502","12948746"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Methylmalonic aciduria, mut(0) type, MIM# 251000"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":["APH2"],"biotype":"protein_coding","hgnc_id":"HGNC:20714","gene_name":"zinc finger DHHC-type containing 16","omim_gene":["616750"],"alias_name":null,"gene_symbol":"ZDHHC16","hgnc_symbol":"ZDHHC16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:99205927-99217127","ensembl_id":"ENSG00000171307"}},"GRch38":{"90":{"location":"10:97446131-97457370","ensembl_id":"ENSG00000171307"}}},"hgnc_date_symbol_changed":"2003-03-21"},"entity_type":"gene","entity_name":"ZDHHC16","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39313616"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["neurodevelopmental disorder MONDO:0700092, ZDHHC16-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","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":[]},{"gene_data":{"alias":["PPI5PIV","CORS1","pharbin"],"biotype":"protein_coding","hgnc_id":"HGNC:21474","gene_name":"inositol polyphosphate-5-phosphatase E","omim_gene":["613037"],"alias_name":null,"gene_symbol":"INPP5E","hgnc_symbol":"INPP5E","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:139323071-139334274","ensembl_id":"ENSG00000148384"}},"GRch38":{"90":{"location":"9:136428619-136439823","ensembl_id":"ENSG00000148384"}}},"hgnc_date_symbol_changed":"2003-06-13"},"entity_type":"gene","entity_name":"INPP5E","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19668216","32139166","29230161","29052317","27998989","27401686","19668215"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Joubert syndrome 1, MIM# 213300","MONDO:0008944","Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156","MONDO:0012423"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. Discrepant gene classifications reviewed and resolved by Chirag Patel and Zornitza Stark.\r\n\r\nThis is a consensus panel used by VCGS, GHQ and RMH.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Intellectual Disability panel, and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, 11/3/2020.","status":"public","version":"1.745","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":["FRA2","FLJ23306"],"biotype":"protein_coding","hgnc_id":"HGNC:3798","gene_name":"FOS like 2, AP-1 transcription factor subunit","omim_gene":["601575"],"alias_name":null,"gene_symbol":"FOSL2","hgnc_symbol":"FOSL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:28615315-28640179","ensembl_id":"ENSG00000075426"}},"GRch38":{"90":{"location":"2:28392448-28417312","ensembl_id":"ENSG00000075426"}}},"hgnc_date_symbol_changed":"1996-10-02"},"entity_type":"gene","entity_name":"FOSL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["36197437"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Aplasia cutis-enamel dysplasia syndrome, MIM# 620789"],"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":["PPP1R170"],"biotype":"protein_coding","hgnc_id":"HGNC:12852","gene_name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma","omim_gene":["605356"],"alias_name":["14-3-3 gamma","protein phosphatase 1, regulatory subunit 170"],"gene_symbol":"YWHAG","hgnc_symbol":"YWHAG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75956116-75988348","ensembl_id":"ENSG00000170027"}},"GRch38":{"90":{"location":"7:76326794-76359031","ensembl_id":"ENSG00000170027"}}},"hgnc_date_symbol_changed":"1993-09-20"},"entity_type":"gene","entity_name":"YWHAG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33393734","33590706","31926053","33767733"],"evidence":["Expert Review Green","Genetic Health Queensland"],"phenotypes":["Developmental and epileptic encephalopathy 56, (MIMI#617665)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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":["DSPG1","SLRR1A"],"biotype":"protein_coding","hgnc_id":"HGNC:1044","gene_name":"biglycan","omim_gene":["301870"],"alias_name":["biglycan proteoglycan"],"gene_symbol":"BGN","hgnc_symbol":"BGN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152760397-152775012","ensembl_id":"ENSG00000182492"}},"GRch38":{"90":{"location":"X:153494939-153509554","ensembl_id":"ENSG00000182492"}}},"hgnc_date_symbol_changed":"1989-07-18"},"entity_type":"gene","entity_name":"BGN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27236923"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Spondyloepimetaphyseal dysplasia, X-linked - MIM# 300106"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HOGA"],"biotype":"protein_coding","hgnc_id":"HGNC:8091","gene_name":"ornithine aminotransferase","omim_gene":["613349"],"alias_name":["Ornithine aminotransferase","ornithine aminotransferase precursor","gyrate atrophy"],"gene_symbol":"OAT","hgnc_symbol":"OAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:126085872-126107545","ensembl_id":"ENSG00000065154"}},"GRch38":{"90":{"location":"10:124397303-124418976","ensembl_id":"ENSG00000065154"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Gyrate atrophy of choroid and retina"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"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":["dJ236A3.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21062","gene_name":"phenylalanyl-tRNA synthetase 2, mitochondrial","omim_gene":["611592"],"alias_name":["phenylalanine tRNA ligase 2, mitochondrial"],"gene_symbol":"FARS2","hgnc_symbol":"FARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:5261277-5771813","ensembl_id":"ENSG00000145982"}},"GRch38":{"90":{"location":"6:5261044-5771580","ensembl_id":"ENSG00000145982"}}},"hgnc_date_symbol_changed":"2004-12-03"},"entity_type":"gene","entity_name":"FARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26553276","25851414","29126765"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 77, autosomal recessive, 617046"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0472","DustyPK","RIP5"],"biotype":"protein_coding","hgnc_id":"HGNC:29043","gene_name":"dual serine/threonine and tyrosine protein kinase","omim_gene":["612666"],"alias_name":null,"gene_symbol":"DSTYK","hgnc_symbol":"DSTYK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:205111632-205180727","ensembl_id":"ENSG00000133059"}},"GRch38":{"90":{"location":"1:205142505-205211566","ensembl_id":"ENSG00000133059"}}},"hgnc_date_symbol_changed":"2008-12-18"},"entity_type":"gene","entity_name":"DSTYK","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["28157540","23862974"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Spastic paraplegia 23, MIM#270750"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","founder"],"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":["GPM6C"],"biotype":"protein_coding","hgnc_id":"HGNC:9086","gene_name":"proteolipid protein 1","omim_gene":["300401"],"alias_name":["Pelizaeus-Merzbacher 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forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC19780"],"biotype":"protein_coding","hgnc_id":"HGNC:28287","gene_name":"ALG14, UDP-N-acetylglucosaminyltransferase subunit","omim_gene":["612866"],"alias_name":null,"gene_symbol":"ALG14","hgnc_symbol":"ALG14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:95439963-95538501","ensembl_id":"ENSG00000172339"}},"GRch38":{"90":{"location":"1:94974407-95072945","ensembl_id":"ENSG00000172339"}}},"hgnc_date_symbol_changed":"2005-08-09"},"entity_type":"gene","entity_name":"ALG14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30221345, 23404334, 28733338, 33751823, 34971077"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Myasthenic syndrome, congenital, 15, without tubular aggregates 616227","Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031","Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036","Disorder of N-glycosylation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3078,"hash_id":null,"name":"Congenital Myasthenia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal 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(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":["eLOX3","E-LOX"],"biotype":"protein_coding","hgnc_id":"HGNC:13743","gene_name":"arachidonate lipoxygenase 3","omim_gene":["607206"],"alias_name":null,"gene_symbol":"ALOXE3","hgnc_symbol":"ALOXE3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7999218-8022365","ensembl_id":"ENSG00000179148"}},"GRch38":{"90":{"location":"17:8095900-8119047","ensembl_id":"ENSG00000179148"}}},"hgnc_date_symbol_changed":"2000-11-29"},"entity_type":"gene","entity_name":"ALOXE3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 3, 606545 (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":["HUS","FHL1","ARMS1","ARMD4"],"biotype":"protein_coding","hgnc_id":"HGNC:4883","gene_name":"complement factor H","omim_gene":["134370"],"alias_name":["beta-1H","H factor 2 (complement)","age-related maculopathy susceptibility 1"],"gene_symbol":"CFH","hgnc_symbol":"CFH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196621008-196716634","ensembl_id":"ENSG00000000971"}},"GRch38":{"90":{"location":"1:196651878-196747504","ensembl_id":"ENSG00000000971"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"CFH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Complement factor H deficiency, 609814 (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:4326","gene_name":"glycine receptor alpha 1","omim_gene":["138491"],"alias_name":["stiff person syndrome"],"gene_symbol":"GLRA1","hgnc_symbol":"GLRA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:151202074-151304403","ensembl_id":"ENSG00000145888"}},"GRch38":{"90":{"location":"5:151822513-151924842","ensembl_id":"ENSG00000145888"}}},"hgnc_date_symbol_changed":"1990-06-15"},"entity_type":"gene","entity_name":"GLRA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["London South GLH","Expert Review Red","NHS GMS"],"phenotypes":["Hyperekplexia, hereditary 1, 149400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HNPCC","FCC2","HNPCC2"],"biotype":"protein_coding","hgnc_id":"HGNC:7127","gene_name":"mutL homolog 1","omim_gene":["120436"],"alias_name":null,"gene_symbol":"MLH1","hgnc_symbol":"MLH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:37034823-37107380","ensembl_id":"ENSG00000076242"}},"GRch38":{"90":{"location":"3:36993332-37050918","ensembl_id":"ENSG00000076242"}}},"hgnc_date_symbol_changed":"1993-11-24"},"entity_type":"gene","entity_name":"MLH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Medulloblastoma, MONDO:0007959","Lynch syndrome 2, MONDO:0012249","Mismatch repair cancer syndrome 1, MONDO:0010159","Lynch syndrome 2, MIM#609310","Mismatch repair cancer syndrome 1, MIM#276300"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":3280,"hash_id":null,"name":"Medulloblastoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with medulloblastoma. \r\n\r\nFurther information on the testing criteria for medulloblastoma can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3654-medulloblastoma-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with medulloblastoma and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\n\r\nThis panel was developed by the Adult Genetics Unit, Royal Adelaide Hospital and SA Pathology. This panel has been updated under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:31:30.977610+11:00","relevant_disorders":["Medulloblastoma","HP:0002885"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"SA Pathology","slug":"sa-pathology","description":"SA Pathology"},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ZNRP","BOV-1A","BOV-1B","BOV-1C","RBM8B","Y14"],"biotype":null,"hgnc_id":"HGNC:9905","gene_name":"RNA binding motif protein 8A","omim_gene":["605313"],"alias_name":null,"gene_symbol":"RBM8A","hgnc_symbol":"RBM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145507598-145513536","ensembl_id":"ENSG00000131795"}},"GRch38":{"90":{"location":"1:145917714-145927678","ensembl_id":"ENSG00000265241"}}},"hgnc_date_symbol_changed":"1999-05-05"},"entity_type":"gene","entity_name":"RBM8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Thrombocytopaenia-absent radius syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2333","gene_name":"carboxypeptidase Z","omim_gene":["603105"],"alias_name":["metallocarboxypeptidase Z"],"gene_symbol":"CPZ","hgnc_symbol":"CPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:8594387-8621488","ensembl_id":"ENSG00000109625"}},"GRch38":{"90":{"location":"4:8592660-8619759","ensembl_id":"ENSG00000109625"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"CPZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Autism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:144","gene_name":"actin gamma 1","omim_gene":["102560"],"alias_name":null,"gene_symbol":"ACTG1","hgnc_symbol":"ACTG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79476997-79490873","ensembl_id":"ENSG00000184009"}},"GRch38":{"90":{"location":"17:81509971-81523847","ensembl_id":"ENSG00000184009"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"ACTG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Deafness, autosomal dominant","Baraitser-Winter syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TSAP6","dudlin-2","STMP3"],"biotype":"protein_coding","hgnc_id":"HGNC:24592","gene_name":"STEAP3 metalloreductase","omim_gene":["609671"],"alias_name":null,"gene_symbol":"STEAP3","hgnc_symbol":"STEAP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:119981384-120023228","ensembl_id":"ENSG00000115107"}},"GRch38":{"90":{"location":"2:119223831-119265652","ensembl_id":"ENSG00000115107"}}},"hgnc_date_symbol_changed":"2005-06-15"},"entity_type":"gene","entity_name":"STEAP3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22031863","25515317","26675350","38360212"],"evidence":["Expert Review Red","Expert Review Red","NHS Genomic Medicine Service","Genomics England PanelApp","Wessex and West Midlands GLH","NHS GMS"],"phenotypes":["Severe congenital hypochromic anemia with ringed sideroblasts, MONDO:0014094"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":["disputed"],"panel":{"id":3366,"hash_id":null,"name":"Red cell disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel contains genes associated with red cell disorders, including anaemias and erythrocytosis.\r\n\r\nPlease refer to the Bone Marrow Failure panel if there is suspicion of pancytopaenia, and to the Diamond Blackfan Anaemia panel if specific features of DBA are present.\r\n\r\nWith thanks to Genomics England PanelApp/NHS Genomic Medicine Service for the original design of this panel.","status":"public","version":"1.52","version_created":"2026-03-28T15:18:36.006857+11:00","relevant_disorders":["Abnormal erythrocyte morphology","HP:0001877"],"stats":{"number_of_genes":116,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GPR73b","PKR2","GPRg2","dJ680N4.3"],"biotype":"protein_coding","hgnc_id":"HGNC:15836","gene_name":"prokineticin receptor 2","omim_gene":["607123"],"alias_name":null,"gene_symbol":"PROKR2","hgnc_symbol":"PROKR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:5282317-5297378","ensembl_id":"ENSG00000101292"}},"GRch38":{"90":{"location":"20:5302040-5314369","ensembl_id":"ENSG00000101292"}}},"hgnc_date_symbol_changed":"2006-02-15"},"entity_type":"gene","entity_name":"PROKR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22319038","18559922","29161432","17054399"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Hypogonadotropic hypogonadism 3 with or without anosmia MIM# 244200","Kallmann syndrome (KS)","normosmic idiopathic hypogonadotropic hypogonadism (nIHH)","Anosmia","GnRH deficiency","cleft lip and palate","renal agenesis","Hypogonadotropic hypogonadism","low testosterone/ estradiol","Absent/ partial Puberty","Hearing loss"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":[],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Hypochondroplasia, MIM#146000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ46629"],"biotype":"protein_coding","hgnc_id":"HGNC:25099","gene_name":"protein arginine methyltransferase 9","omim_gene":["616125"],"alias_name":null,"gene_symbol":"PRMT9","hgnc_symbol":"PRMT9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:148558936-148605381","ensembl_id":"ENSG00000164169"}},"GRch38":{"90":{"location":"4:147637785-147684230","ensembl_id":"ENSG00000164169"}}},"hgnc_date_symbol_changed":"2014-01-24"},"entity_type":"gene","entity_name":"PRMT9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38561334","41260215"],"evidence":["Literature","Expert Review Green","Expert Review Green"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, PRMT9-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KIAA0018","seladin-1"],"biotype":"protein_coding","hgnc_id":"HGNC:2859","gene_name":"24-dehydrocholesterol reductase","omim_gene":["606418"],"alias_name":null,"gene_symbol":"DHCR24","hgnc_symbol":"DHCR24","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55315306-55352891","ensembl_id":"ENSG00000116133"}},"GRch38":{"90":{"location":"1:54849633-54887218","ensembl_id":"ENSG00000116133"}}},"hgnc_date_symbol_changed":"1998-04-27"},"entity_type":"gene","entity_name":"DHCR24","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Desmosterolosis, MONDO:0011217"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:37216","gene_name":"lipoyl(octanoyl) transferase 2","omim_gene":["617659"],"alias_name":null,"gene_symbol":"LIPT2","hgnc_symbol":"LIPT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:74202757-74204778","ensembl_id":"ENSG00000175536"}},"GRch38":{"90":{"location":"11:74491712-74493733","ensembl_id":"ENSG00000175536"}}},"hgnc_date_symbol_changed":"2009-09-09"},"entity_type":"gene","entity_name":"LIPT2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28757203"],"evidence":["Expert Review Red","Genomics England PanelApp","Expert list"],"phenotypes":["Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11301","gene_name":"signal recognition particle 54","omim_gene":["604857"],"alias_name":null,"gene_symbol":"SRP54","hgnc_symbol":"SRP54","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:35451163-35498773","ensembl_id":"ENSG00000100883"}},"GRch38":{"90":{"location":"14:34981957-35029567","ensembl_id":"ENSG00000100883"}}},"hgnc_date_symbol_changed":"1991-12-05"},"entity_type":"gene","entity_name":"SRP54","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Neutropenia, severe congenital, 8, autosomal dominant, MIM#\t618752"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":["KIAA0683","hCLK2","TEL2"],"biotype":"protein_coding","hgnc_id":"HGNC:29099","gene_name":"telomere maintenance 2","omim_gene":["611140"],"alias_name":null,"gene_symbol":"TELO2","hgnc_symbol":"TELO2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1543345-1560458","ensembl_id":"ENSG00000100726"}},"GRch38":{"90":{"location":"16:1493344-1510457","ensembl_id":"ENSG00000100726"}}},"hgnc_date_symbol_changed":"2006-09-25"},"entity_type":"gene","entity_name":"TELO2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27132593","28944240"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848","You-Hoover-Fong syndrome, OMIM:616954"],"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":["MGC13379","HSPC244","JBTS2"],"biotype":"protein_coding","hgnc_id":"HGNC:25018","gene_name":"transmembrane protein 216","omim_gene":["613277"],"alias_name":null,"gene_symbol":"TMEM216","hgnc_symbol":"TMEM216","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61159159-61166335","ensembl_id":"ENSG00000187049"}},"GRch38":{"90":{"location":"11:61391687-61398863","ensembl_id":"ENSG00000187049"}}},"hgnc_date_symbol_changed":"2008-06-10"},"entity_type":"gene","entity_name":"TMEM216","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20512146","20036350"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 2, MIM# 608091","Meckel syndrome 2, OMIM:603194","Meckel syndrome, type 2, MONDO:0011296"],"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":["SEN2","SEN2L","MGC2776"],"biotype":"protein_coding","hgnc_id":"HGNC:28422","gene_name":"tRNA splicing endonuclease subunit 2","omim_gene":["608753"],"alias_name":null,"gene_symbol":"TSEN2","hgnc_symbol":"TSEN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:12525931-12581122","ensembl_id":"ENSG00000154743"}},"GRch38":{"90":{"location":"3:12484432-12539623","ensembl_id":"ENSG00000154743"}}},"hgnc_date_symbol_changed":"2005-03-07"},"entity_type":"gene","entity_name":"TSEN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23562994","20952379","27392077"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pontocerebellar hypoplasia type 2B (MIM#612389)"],"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":["FAP48","GLML","GVM","FKBPAP"],"biotype":"protein_coding","hgnc_id":"HGNC:14373","gene_name":"glomulin, FKBP associated protein","omim_gene":["601749"],"alias_name":null,"gene_symbol":"GLMN","hgnc_symbol":"GLMN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:92711959-92764544","ensembl_id":"ENSG00000174842"}},"GRch38":{"90":{"location":"1:92246402-92298987","ensembl_id":"ENSG00000174842"}}},"hgnc_date_symbol_changed":"2003-07-14"},"entity_type":"gene","entity_name":"GLMN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Glomuvenous malformations MIM#138000"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. 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":["MYBP-C","FHC"],"biotype":"protein_coding","hgnc_id":"HGNC:7551","gene_name":"myosin binding protein C, cardiac","omim_gene":["600958"],"alias_name":null,"gene_symbol":"MYBPC3","hgnc_symbol":"MYBPC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:47352957-47374253","ensembl_id":"ENSG00000134571"}},"GRch38":{"90":{"location":"11:47331397-47352702","ensembl_id":"ENSG00000134571"}}},"hgnc_date_symbol_changed":"1995-05-30"},"entity_type":"gene","entity_name":"MYBPC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16679492","17937428","19858127"],"evidence":["Expert Review Green","Expert list","Literature"],"phenotypes":["Neonatal hypertrophic cardiomyopathy","Cardiomyopathy, hypertrophic, 4 - MIM#115197"],"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. 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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":["FLJ22167","ALYE870","PRO1886","JBTS20","MKS11"],"biotype":"protein_coding","hgnc_id":"HGNC:37234","gene_name":"transmembrane protein 231","omim_gene":["614949"],"alias_name":null,"gene_symbol":"TMEM231","hgnc_symbol":"TMEM231","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75572015-75590184","ensembl_id":"ENSG00000205084"}},"GRch38":{"90":{"location":"16:75536744-75556286","ensembl_id":"ENSG00000205084"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"TMEM231","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23012439","23349226","22179047","30617574","27449316","31663672","25869670"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 20, MIM# 614970","MONDO:0013994","Meckel syndrome 11, MIM# 615397","MONDO:0014164"],"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":["STAT91","ISGF-3"],"biotype":"protein_coding","hgnc_id":"HGNC:11362","gene_name":"signal transducer and activator of transcription 1","omim_gene":["600555"],"alias_name":["transcription factor ISGF-3 components p91/p84"],"gene_symbol":"STAT1","hgnc_symbol":"STAT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:191829084-191885686","ensembl_id":"ENSG00000115415"}},"GRch38":{"90":{"location":"2:190964358-191020960","ensembl_id":"ENSG00000115415"}}},"hgnc_date_symbol_changed":"1995-11-08"},"entity_type":"gene","entity_name":"STAT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12590259","16585605","20841510","31512162","27117246","21772053","32603902"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796","Immunodeficiency 31B MONDO:0013427"],"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:9577","gene_name":"phosphoserine phosphatase","omim_gene":["172480"],"alias_name":null,"gene_symbol":"PSPH","hgnc_symbol":"PSPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:56078744-56119297","ensembl_id":"ENSG00000146733"}},"GRch38":{"90":{"location":"7:56011051-56051604","ensembl_id":"ENSG00000146733"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PSPH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["26589312, 25080166, 14673469","27604308","26888760","25152457"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["neurometabolic disorder due to serine deficiency MONDO:0018162"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5389","gene_name":"iduronate 2-sulfatase","omim_gene":["300823"],"alias_name":["Hunter syndrome"],"gene_symbol":"IDS","hgnc_symbol":"IDS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:148558521-148615470","ensembl_id":"ENSG00000010404"}},"GRch38":{"90":{"location":"X:149476990-149521096","ensembl_id":"ENSG00000010404"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"IDS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["CalDAG-GEFII","RASGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:9878","gene_name":"RAS guanyl releasing protein 1","omim_gene":["603962"],"alias_name":["calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II"],"gene_symbol":"RASGRP1","hgnc_symbol":"RASGRP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:38780304-38857776","ensembl_id":"ENSG00000172575"}},"GRch38":{"90":{"location":"15:38488103-38565575","ensembl_id":"ENSG00000172575"}}},"hgnc_date_symbol_changed":"1999-06-02"},"entity_type":"gene","entity_name":"RASGRP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Immunodeficiency 64 (MIM#618534)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"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":[]},{"gene_data":{"alias":["AMN","ALDP","adrenoleukodystrophy"],"biotype":"protein_coding","hgnc_id":"HGNC:61","gene_name":"ATP binding cassette subfamily D member 1","omim_gene":["300371"],"alias_name":null,"gene_symbol":"ABCD1","hgnc_symbol":"ABCD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:152990323-153010216","ensembl_id":"ENSG00000101986"}},"GRch38":{"90":{"location":"X:153724868-153744762","ensembl_id":"ENSG00000101986"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ABCD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Adrenoleukodystrophy, MIM# 300100"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["NARC-1","FH3"],"biotype":"protein_coding","hgnc_id":"HGNC:20001","gene_name":"proprotein convertase subtilisin/kexin type 9","omim_gene":["607786"],"alias_name":null,"gene_symbol":"PCSK9","hgnc_symbol":"PCSK9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:55505221-55530525","ensembl_id":"ENSG00000169174"}},"GRch38":{"90":{"location":"1:55039548-55064852","ensembl_id":"ENSG00000169174"}}},"hgnc_date_symbol_changed":"2003-05-13"},"entity_type":"gene","entity_name":"PCSK9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category B gene"],"phenotypes":["Hypercholesterolaemia, familial, 3, MIM# 603776"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["for review","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":["DP3","PDGB","PKGB","DPIII"],"biotype":"protein_coding","hgnc_id":"HGNC:6207","gene_name":"junction plakoglobin","omim_gene":["173325"],"alias_name":null,"gene_symbol":"JUP","hgnc_symbol":"JUP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:39775692-39943183","ensembl_id":"ENSG00000173801"}},"GRch38":{"90":{"location":"17:41754604-41786931","ensembl_id":"ENSG00000173801"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"JUP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene","BabySeq Category B gene"],"phenotypes":["Arrhythmogenic right ventricular dysplasia 12 MIM# 611528","Naxos disease MIM# 601214"],"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":["TGASE","TGK","LI","LI1"],"biotype":"protein_coding","hgnc_id":"HGNC:11777","gene_name":"transglutaminase 1","omim_gene":["190195"],"alias_name":["K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"],"gene_symbol":"TGM1","hgnc_symbol":"TGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24718320-24733638","ensembl_id":"ENSG00000092295"}},"GRch38":{"90":{"location":"14:24249114-24264432","ensembl_id":"ENSG00000092295"}}},"hgnc_date_symbol_changed":"1990-05-25"},"entity_type":"gene","entity_name":"TGM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9326318","10482949","11298529","24261627","30302839"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ichthyosis, congenital, autosomal recessive 1, MIM#242300"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0155","TSBP","p150TSP"],"biotype":"protein_coding","hgnc_id":"HGNC:16850","gene_name":"CTR9 homolog, Paf1/RNA polymerase II complex component","omim_gene":["609366"],"alias_name":null,"gene_symbol":"CTR9","hgnc_symbol":"CTR9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:10772534-10801290","ensembl_id":"ENSG00000198730"}},"GRch38":{"90":{"location":"11:10750987-10779743","ensembl_id":"ENSG00000198730"}}},"hgnc_date_symbol_changed":"2006-05-22"},"entity_type":"gene","entity_name":"CTR9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25099282","39293508","29292210"],"evidence":["Expert Review Green","Literature","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Wilms tumor predisposition, no MIM#"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RNF53","BRCC1","PPP1R53","FANCS"],"biotype":"protein_coding","hgnc_id":"HGNC:1100","gene_name":"BRCA1, DNA repair associated","omim_gene":["113705"],"alias_name":["BRCA1/BRCA2-containing complex, subunit 1","protein phosphatase 1, regulatory subunit 53","Fanconi anemia, complementation group S"],"gene_symbol":"BRCA1","hgnc_symbol":"BRCA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:41196312-41277500","ensembl_id":"ENSG00000012048"}},"GRch38":{"90":{"location":"17:43044295-43170245","ensembl_id":"ENSG00000012048"}}},"hgnc_date_symbol_changed":"1991-02-20"},"entity_type":"gene","entity_name":"BRCA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Endometrial cancer, MONDO:0011962","BRCA1-related cancer predisposition, MONDO:0700268","Breast-ovarian cancer, familial, 1, MIM#604370"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4373,"hash_id":null,"name":"Endometrial Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with endometrial cancer. \r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with endometrial cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:28:51.012692+11:00","relevant_disorders":[],"stats":{"number_of_genes":10,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["NTE","sws","iPLA2delta","SPG39"],"biotype":"protein_coding","hgnc_id":"HGNC:16268","gene_name":"patatin like phospholipase domain containing 6","omim_gene":["603197"],"alias_name":["neuropathy target esterase"],"gene_symbol":"PNPLA6","hgnc_symbol":"PNPLA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7598890-7626650","ensembl_id":"ENSG00000032444"}},"GRch38":{"90":{"location":"19:7534004-7561764","ensembl_id":"ENSG00000032444"}}},"hgnc_date_symbol_changed":"2006-07-05"},"entity_type":"gene","entity_name":"PNPLA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27866050","24790214","25267340","25033069","24355708","33141049"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Boucher-Neuhauser syndrome, MIM# 215470"],"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":["Lhx7"],"biotype":"protein_coding","hgnc_id":"HGNC:28838","gene_name":"LIM homeobox 8","omim_gene":["604425"],"alias_name":null,"gene_symbol":"LHX8","hgnc_symbol":"LHX8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:75594119-75627218","ensembl_id":"ENSG00000162624"}},"GRch38":{"90":{"location":"1:75128434-75161533","ensembl_id":"ENSG00000162624"}}},"hgnc_date_symbol_changed":"2005-06-02"},"entity_type":"gene","entity_name":"LHX8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27603904","34095689","29329412","36029299"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Inherited premature ovarian failure, MONDO:0019852, LHX8-related"],"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":["EIF2B","EIF-2Bbeta"],"biotype":"protein_coding","hgnc_id":"HGNC:3258","gene_name":"eukaryotic translation initiation factor 2B subunit beta","omim_gene":["606454"],"alias_name":null,"gene_symbol":"EIF2B2","hgnc_symbol":"EIF2B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:75469614-75476292","ensembl_id":"ENSG00000119718"}},"GRch38":{"90":{"location":"14:75002911-75012366","ensembl_id":"ENSG00000119718"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["12707859","21484434"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure, MIM# 603896"],"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":["Phox2b","NBPhox"],"biotype":"protein_coding","hgnc_id":"HGNC:9143","gene_name":"paired like homeobox 2b","omim_gene":["603851"],"alias_name":null,"gene_symbol":"PHOX2B","hgnc_symbol":"PHOX2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:41746099-41750987","ensembl_id":"ENSG00000109132"}},"GRch38":{"90":{"location":"4:41744082-41748970","ensembl_id":"ENSG00000109132"}}},"hgnc_date_symbol_changed":"2003-02-14"},"entity_type":"str","entity_name":"PHOX2B_CCHS_GCN","confidence_level":"3","penetrance":null,"publications":["12640453","34012823","20301600","18798833"],"evidence":["Expert list","Expert Review Green","Expert list"],"phenotypes":["Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GCN","chromosome":"4","grch37_coordinates":[41747989,41748048],"grch38_coordinates":[41745972,41746031],"normal_repeats":20,"pathogenic_repeats":25,"tags":["paediatric-onset"],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}