{"count":36022,"next":null,"previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=360","results":[{"gene_data":{"alias":["DYT5b"],"biotype":"protein_coding","hgnc_id":"HGNC:11782","gene_name":"tyrosine hydroxylase","omim_gene":["191290"],"alias_name":["tyrosine 3-monooxygenase"],"gene_symbol":"TH","hgnc_symbol":"TH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:2185159-2193107","ensembl_id":"ENSG00000180176"}},"GRch38":{"90":{"location":"11:2163929-2171877","ensembl_id":"ENSG00000180176"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Melbourne Genomics Health Alliance Complex Neurology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Segawa syndrome, recessive MIM#605407"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":24,"hash_id":null,"name":"Early-onset Dementia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause frontotemporal dementia (FTD), Alzheimer's disease, other forms of dementia, and adult-onset cognitive decline. It is currently maintained by VCGS and RMH. The base panel (17/11/2019) was developed and used by the Melbourne Genomics Complex Neurology Flagship.","status":"public","version":"1.58","version_created":"2026-03-31T16:43:37.497568+11:00","relevant_disorders":["Cognitive impairment","HP:0100543"],"stats":{"number_of_genes":96,"number_of_strs":6,"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":"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:9835","gene_name":"retinoic acid induced 2","omim_gene":["300217"],"alias_name":null,"gene_symbol":"RAI2","hgnc_symbol":"RAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:17818169-17879457","ensembl_id":"ENSG00000131831"}},"GRch38":{"90":{"location":"X:17800049-17861337","ensembl_id":"ENSG00000131831"}}},"hgnc_date_symbol_changed":"1998-09-29"},"entity_type":"gene","entity_name":"RAI2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","ClinGen"],"phenotypes":["Congenital heart disease, MONDO:0005453"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.534","version_created":"2026-03-30T13:14:35.719896+11:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":253,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARVC2","VTSIP"],"biotype":"protein_coding","hgnc_id":"HGNC:10484","gene_name":"ryanodine receptor 2","omim_gene":["180902"],"alias_name":null,"gene_symbol":"RYR2","hgnc_symbol":"RYR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:237205505-237997288","ensembl_id":"ENSG00000198626"}},"GRch38":{"90":{"location":"1:237042205-237833988","ensembl_id":"ENSG00000198626"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"RYR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30681346","26573135","22515980","26656175","30835254"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Hypertrophic cardiomyopathy"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":111,"hash_id":null,"name":"Hypertrophic cardiomyopathy","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with hypertrophic cardiomyopathy or isolated left ventricular hypertrophy (including sarcomere, sarcomere-associated and syndromic conditions), typically with onset in adolescence or adulthood. For early-onset hypertrophic cardiomyopathy, or in the presence of additional features suggestive of an underlying metabolic or syndromic disorder please consider the Cardiomyopathy_Paediatric panel. Where the type of cardiomyopathy is unclear, consider using the Cardiomyopathy Superpanel.\r\n\r\nThis panel was developed by VCGS and is maintained by VCGS and RMH. It has been compared against the Genomics England 'Hypertrophic Cardiomyopathy  - teen and adult' panel and incorporates gene-disease validity assessments by the ClinGen HCM working group (PMID: 30681346), 5/8/2020 and Hereditary Cardiovascular Disorders Gene Curation Expert Panel (PMID: 39132495).","status":"public","version":"1.25","version_created":"2026-03-11T18:45:28.302854+11:00","relevant_disorders":["Hypertrophic cardiomyopathy","HP:0001639"],"stats":{"number_of_genes":64,"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"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:493","gene_name":"ankyrin 2","omim_gene":["106410"],"alias_name":null,"gene_symbol":"ANK2","hgnc_symbol":"ANK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:113739265-114304896","ensembl_id":"ENSG00000145362"}},"GRch38":{"90":{"location":"4:112818109-113383740","ensembl_id":"ENSG00000145362"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"ANK2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31983240"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Long QT syndrome 4, MIM#\t600919"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9904","gene_name":"RNA binding motif protein 7","omim_gene":["612413"],"alias_name":null,"gene_symbol":"RBM7","hgnc_symbol":"RBM7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:114270752-114284925","ensembl_id":"ENSG00000076053"}},"GRch38":{"90":{"location":"11:114400030-114414203","ensembl_id":"ENSG00000076053"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"RBM7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27193168"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["SMA-like spinal motor neuropathy","dHMN/dSMA"],"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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["P450IIC19","CPCJ"],"biotype":"protein_coding","hgnc_id":"HGNC:2621","gene_name":"cytochrome P450 family 2 subfamily C member 19","omim_gene":["124020"],"alias_name":null,"gene_symbol":"CYP2C19","hgnc_symbol":"CYP2C19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:96447911-96613017","ensembl_id":"ENSG00000165841"}},"GRch38":{"90":{"location":"10:94762624-94853260","ensembl_id":"ENSG00000165841"}}},"hgnc_date_symbol_changed":"1992-04-06"},"entity_type":"gene","entity_name":"CYP2C19","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27981572","26616742","31549386","31549389"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Voriconazole"],"mode_of_inheritance":"Other","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":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["CNP"],"biotype":"protein_coding","hgnc_id":"HGNC:7941","gene_name":"natriuretic peptide C","omim_gene":["600296"],"alias_name":null,"gene_symbol":"NPPC","hgnc_symbol":"NPPC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:232786530-232791113","ensembl_id":"ENSG00000163273"}},"GRch38":{"90":{"location":"2:231921820-231926403","ensembl_id":"ENSG00000163273"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"NPPC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28661490","32528716"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["short stature and non-specific skeletal anomalies - MONDO#0014551"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["OP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:1074","gene_name":"bone morphogenetic protein 7","omim_gene":["112267"],"alias_name":["osteogenic protein 1"],"gene_symbol":"BMP7","hgnc_symbol":"BMP7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:55743804-55841685","ensembl_id":"ENSG00000101144"}},"GRch38":{"90":{"location":"20:57168748-57266629","ensembl_id":"ENSG00000101144"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"BMP7","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"Other","publications":["32266521","24429398","33434492"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital anomaly of kidney and urinary tract, MONDO:0019719, BMP7-related","Isolated craniosynostosis, MONDO:0015337, BMP7-related","Mayer-Rokitansky-Kuster-Hauser syndrome, MONDO:0017771, BMP7-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4716","version_created":"2026-04-04T15:36:29.134157+11:00","relevant_disorders":[],"stats":{"number_of_genes":6012,"number_of_strs":43,"number_of_regions":6},"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":["IRE1","IRE1P"],"biotype":"protein_coding","hgnc_id":"HGNC:3449","gene_name":"endoplasmic reticulum to nucleus signaling 1","omim_gene":["604033"],"alias_name":["inositol-requiring enzyme 1","Serine/threonine-protein kinase/endoribonuclease IRE1"],"gene_symbol":"ERN1","hgnc_symbol":"ERN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:62116502-62208179","ensembl_id":"ENSG00000178607"}},"GRch38":{"90":{"location":"17:64039142-64130819","ensembl_id":"ENSG00000178607"}}},"hgnc_date_symbol_changed":"1998-08-06"},"entity_type":"gene","entity_name":"ERN1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Immune dysregulation"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.40","version_created":"2026-03-27T14:13:44.676217+11:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":117,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ35613","NHE9"],"biotype":"protein_coding","hgnc_id":"HGNC:20653","gene_name":"solute carrier family 9 member A9","omim_gene":["608396"],"alias_name":null,"gene_symbol":"SLC9A9","hgnc_symbol":"SLC9A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:142984064-143567373","ensembl_id":"ENSG00000181804"}},"GRch38":{"90":{"location":"3:143265222-143848531","ensembl_id":"ENSG00000181804"}}},"hgnc_date_symbol_changed":"2003-03-28"},"entity_type":"gene","entity_name":"SLC9A9","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["18621663","31134136","27123481","26755066"],"evidence":["ClinGen","Expert Review Red"],"phenotypes":["{?Autism susceptibility 16}, MIM# 613410"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["disputed"],"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":["EEF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:3214","gene_name":"eukaryotic translation elongation factor 2","omim_gene":["130610"],"alias_name":["polypeptidyl-tRNA translocase"],"gene_symbol":"EEF2","hgnc_symbol":"EEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3976054-3985467","ensembl_id":"ENSG00000167658"}},"GRch38":{"90":{"location":"19:3976056-3985469","ensembl_id":"ENSG00000167658"}}},"hgnc_date_symbol_changed":"1991-03-11"},"entity_type":"gene","entity_name":"EEF2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15732118","23001565"],"evidence":["Victorian Clinical Genetics Services","GeneReviews","Royal Melbourne Hospital","Expert Review Red","Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["?Spinocerebellar ataxia 26"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.202","version_created":"2026-04-02T15:02:17.166617+11:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"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":["ERAB","MHBD","17b-HSD10","ABAD","SDR5C1","MRPP2","CAMR"],"biotype":"protein_coding","hgnc_id":"HGNC:4800","gene_name":"hydroxysteroid 17-beta dehydrogenase 10","omim_gene":["300256"],"alias_name":["type 10 17b-HSD","type 10 17beta-hydroxysteroid dehydrogenase","AB-binding alcohol dehydrogenase","short chain dehydrogenase/reductase family 5C, member 1","mitochondrial RNase P subunit 2"],"gene_symbol":"HSD17B10","hgnc_symbol":"HSD17B10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:53458206-53461320","ensembl_id":"ENSG00000072506"}},"GRch38":{"90":{"location":"X:53431258-53434373","ensembl_id":"ENSG00000072506"}}},"hgnc_date_symbol_changed":"2006-11-22"},"entity_type":"gene","entity_name":"HSD17B10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["22127393"],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["HSD10 mitochondrial disease, MIM# 300438"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:18971","gene_name":"adaptor related protein complex 1 sigma 3 subunit","omim_gene":["615781"],"alias_name":null,"gene_symbol":"AP1S3","hgnc_symbol":"AP1S3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:224616403-224702744","ensembl_id":"ENSG00000152056"}},"GRch38":{"90":{"location":"2:223751686-223838027","ensembl_id":"ENSG00000152056"}}},"hgnc_date_symbol_changed":"2002-12-17"},"entity_type":"gene","entity_name":"AP1S3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Pustular psoriasis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Isl-1","ISLET1"],"biotype":"protein_coding","hgnc_id":"HGNC:6132","gene_name":"ISL LIM homeobox 1","omim_gene":["600366"],"alias_name":null,"gene_symbol":"ISL1","hgnc_symbol":"ISL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:50678921-50690564","ensembl_id":"ENSG00000016082"}},"GRch38":{"90":{"location":"5:51383391-51394738","ensembl_id":"ENSG00000016082"}}},"hgnc_date_symbol_changed":"1994-12-13"},"entity_type":"gene","entity_name":"ISL1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Diabetes, type 2"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["iPLA2","PNPLA9","PARK14","iPLA2beta","NBIA2"],"biotype":"protein_coding","hgnc_id":"HGNC:9039","gene_name":"phospholipase A2 group VI","omim_gene":["603604"],"alias_name":["neurodegeneration with brain iron accumulation 2"],"gene_symbol":"PLA2G6","hgnc_symbol":"PLA2G6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38507502-38601697","ensembl_id":"ENSG00000184381"}},"GRch38":{"90":{"location":"22:38111495-38205690","ensembl_id":"ENSG00000184381"}}},"hgnc_date_symbol_changed":"1998-09-07"},"entity_type":"gene","entity_name":"PLA2G6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Infantile neuroaxonal dystrophy 1 MIM#256600","Neurodegeneration with brain iron accumulation 2B MIM#610217","Parkinson disease 14, autosomal recessive MIM#612953"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MYH"],"biotype":"protein_coding","hgnc_id":"HGNC:7527","gene_name":"mutY DNA glycosylase","omim_gene":["604933"],"alias_name":null,"gene_symbol":"MUTYH","hgnc_symbol":"MUTYH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45794835-45806142","ensembl_id":"ENSG00000132781"}},"GRch38":{"90":{"location":"1:45329163-45340470","ensembl_id":"ENSG00000132781"}}},"hgnc_date_symbol_changed":"1997-10-24"},"entity_type":"gene","entity_name":"MUTYH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Adenomas, multiple colorectal, MIM# 608456"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Nav1.2","HBSCII","HBSCI"],"biotype":"protein_coding","hgnc_id":"HGNC:10588","gene_name":"sodium voltage-gated channel alpha subunit 2","omim_gene":["182390"],"alias_name":null,"gene_symbol":"SCN2A","hgnc_symbol":"SCN2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166095912-166248818","ensembl_id":"ENSG00000136531"}},"GRch38":{"90":{"location":"2:165194993-165392310","ensembl_id":"ENSG00000136531"}}},"hgnc_date_symbol_changed":"2007-01-23"},"entity_type":"gene","entity_name":"SCN2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BeginNGS"],"phenotypes":["Developmental and epileptic encephalopathy 11, MIM#\t613721"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XT3","Xtrp3"],"biotype":"protein_coding","hgnc_id":"HGNC:30927","gene_name":"solute carrier family 6 member 20","omim_gene":["605616"],"alias_name":null,"gene_symbol":"SLC6A20","hgnc_symbol":"SLC6A20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:45796942-45838027","ensembl_id":"ENSG00000163817"}},"GRch38":{"90":{"location":"3:45755450-45796535","ensembl_id":"ENSG00000163817"}}},"hgnc_date_symbol_changed":"2004-04-02"},"entity_type":"gene","entity_name":"SLC6A20","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["24816252","19033659","36820062"],"evidence":["Expert Review Red","Expert list","Expert list"],"phenotypes":["Hyperglycinuria, MIM# 138500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DGCRK6","Gy1","pasha"],"biotype":"protein_coding","hgnc_id":"HGNC:2847","gene_name":"DGCR8, microprocessor complex subunit","omim_gene":["609030"],"alias_name":null,"gene_symbol":"DGCR8","hgnc_symbol":"DGCR8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:20067755-20099400","ensembl_id":"ENSG00000128191"}},"GRch38":{"90":{"location":"22:20080232-20111877","ensembl_id":"ENSG00000128191"}}},"hgnc_date_symbol_changed":"2000-06-29"},"entity_type":"gene","entity_name":"DGCR8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31805011"],"evidence":["Expert Review Red","Expert Review","Literature"],"phenotypes":["Schwannoma, MONDO:0002546","Early-onset multinodular goiter and schwannomatosis, no MIM#"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4357,"hash_id":null,"name":"Schwannoma","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with schwannoma. \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 schwannoma 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":"2024-11-01T16:35:56.331762+11:00","relevant_disorders":[],"stats":{"number_of_genes":7,"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":["HEX1","hExoI"],"biotype":"protein_coding","hgnc_id":"HGNC:3511","gene_name":"exonuclease 1","omim_gene":["606063"],"alias_name":["rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"],"gene_symbol":"EXO1","hgnc_symbol":"EXO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:242011269-242058450","ensembl_id":"ENSG00000174371"}},"GRch38":{"90":{"location":"1:241847967-241895148","ensembl_id":"ENSG00000174371"}}},"hgnc_date_symbol_changed":"1999-07-07"},"entity_type":"gene","entity_name":"EXO1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["ClinGen"],"phenotypes":["Lynch syndrome, MONDO:0005835"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["refuted"],"panel":{"id":4371,"hash_id":null,"name":"Colorectal Cancer and Polyposis","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with colorectal cancer and polyposis. \r\n\r\nFurther information on the testing criteria for colorectal cancer and polyposis can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/4116-gastrointestinal-polyposis-and-colorectal-can\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 colorectal cancer and polyposis 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":"1.4","version_created":"2025-11-20T12:31:46.390137+11:00","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"},{"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":["CMPD4","FLJ32040","TMD","CMH9","LGMD2J","MYLK5"],"biotype":"protein_coding","hgnc_id":"HGNC:12403","gene_name":"titin","omim_gene":["188840"],"alias_name":null,"gene_symbol":"TTN","hgnc_symbol":"TTN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:179390716-179695529","ensembl_id":"ENSG00000155657"}},"GRch38":{"90":{"location":"2:178525989-178830802","ensembl_id":"ENSG00000155657"}}},"hgnc_date_symbol_changed":"1991-06-07"},"entity_type":"gene","entity_name":"TTN","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["36977548","38148006","29575618"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Lethal congenital contracture syndrome, MONDO:0017436"],"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":"1.137","version_created":"2026-03-31T15:48:32.205924+11:00","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":null,"entity_type":"region","entity_name":"ISCA-37393-Gain","verbose_name":"Cat eye syndrome, 22q11.21 tetrasomy syndrome","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"haploinsufficiency_score":null,"triplosensitivity_score":"3","required_overlap_percentage":80,"type_of_variants":"cnv_gain","publications":[],"evidence":["Expert Review Green","Expert Review","Expert Review"],"phenotypes":["Cat eye syndrome, MIM#\t115470","coloboma","anal atresia","heart and renal malformations"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","chromosome":"22","grch37_coordinates":null,"grch38_coordinates":[16912063,18109094],"tags":["SV/CNV"],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}