{"count":36040,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=106","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=104","results":[{"gene_data":{"alias":["FSSV","DA2B"],"biotype":"protein_coding","hgnc_id":"HGNC:11946","gene_name":"troponin I2, fast skeletal type","omim_gene":["191043"],"alias_name":["troponin I, fast-twitch skeletal muscle isoform","troponin I fast twitch 2"],"gene_symbol":"TNNI2","hgnc_symbol":"TNNI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:1860219-1862910","ensembl_id":"ENSG00000130598"}},"GRch38":{"90":{"location":"11:1838989-1841680","ensembl_id":"ENSG00000130598"}}},"hgnc_date_symbol_changed":"1989-12-11"},"entity_type":"gene","entity_name":"TNNI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["17194691","25340332","12592607"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Arthrogryposis, distal, type 2B1, MIM# 601680"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":47,"hash_id":null,"name":"Arthrogryposis","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that have been associated with multiple congenital contractures (arthrogryposis). 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1B transcriptional repressor","omim_gene":["604383"],"alias_name":null,"gene_symbol":"GFI1B","hgnc_symbol":"GFI1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:135820932-135867083","ensembl_id":"ENSG00000165702"}},"GRch38":{"90":{"location":"9:132944000-132991687","ensembl_id":"ENSG00000165702"}}},"hgnc_date_symbol_changed":"1998-09-17"},"entity_type":"gene","entity_name":"GFI1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24325358","23927492","28041820","11825872"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Bleeding disorder, platelet-type, 17 MIM#187900"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":54,"hash_id":null,"name":"Bleeding and Platelet Disorders","disease_group":"Haematological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with coagulation, platelet and blood vessel disorders that predispose to bleeding and to thrombosis.","status":"public","version":"1.77","version_created":"2026-04-08T12:32:35.286494+10:00","relevant_disorders":["Abnormal bleeding","HP:0001892;Abnormal thrombosis","HP:0001977"],"stats":{"number_of_genes":140,"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":["AAT","A1A","PI1","alpha-1-antitrypsin","A1AT","alpha1AT"],"biotype":"protein_coding","hgnc_id":"HGNC:8941","gene_name":"serpin family A member 1","omim_gene":["107400"],"alias_name":["protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"],"gene_symbol":"SERPINA1","hgnc_symbol":"SERPINA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:94843084-94857030","ensembl_id":"ENSG00000197249"}},"GRch38":{"90":{"location":"14:94376747-94390693","ensembl_id":"ENSG00000197249"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"SERPINA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301692","9041988","34408829"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Emphysema due to AAT deficiency, MIM#613490","Emphysema-cirrhosis, due to AAT deficiency, MIM#613490","Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490","alpha 1-antitrypsin deficiency, MONDO#0013282"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":78,"hash_id":null,"name":"Cholestasis","disease_group":"Gastroenterological 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panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EGRA","TIEG1"],"biotype":"protein_coding","hgnc_id":"HGNC:11810","gene_name":"Kruppel like factor 10","omim_gene":["601878"],"alias_name":null,"gene_symbol":"KLF10","hgnc_symbol":"KLF10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103661007-103668130","ensembl_id":"ENSG00000155090"}},"GRch38":{"90":{"location":"8:102648779-102655902","ensembl_id":"ENSG00000155090"}}},"hgnc_date_symbol_changed":"2004-12-01"},"entity_type":"gene","entity_name":"KLF10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 22234868"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["AST","SD","ISSD","NSD","SIALIN","SLD"],"biotype":"protein_coding","hgnc_id":"HGNC:10933","gene_name":"solute carrier family 17 member 5","omim_gene":["604322"],"alias_name":null,"gene_symbol":"SLC17A5","hgnc_symbol":"SLC17A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:74303102-74363878","ensembl_id":"ENSG00000119899"}},"GRch38":{"90":{"location":"6:73593379-73654155","ensembl_id":"ENSG00000119899"}}},"hgnc_date_symbol_changed":"2000-01-06"},"entity_type":"gene","entity_name":"SLC17A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34667062","10546100"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sialic acid storage disorder, infantile, MIM#\t269920"],"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":null},{"gene_data":{"alias":["FHH","NSHPT","GPRC2A"],"biotype":"protein_coding","hgnc_id":"HGNC:1514","gene_name":"calcium sensing receptor","omim_gene":["601199"],"alias_name":["severe neonatal hyperparathyroidism"],"gene_symbol":"CASR","hgnc_symbol":"CASR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:121902530-122005342","ensembl_id":"ENSG00000036828"}},"GRch38":{"90":{"location":"3:122183683-122291629","ensembl_id":"ENSG00000036828"}}},"hgnc_date_symbol_changed":"1992-12-04"},"entity_type":"gene","entity_name":"CASR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7916660","7726161","8675635","17698911"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypocalciuric hypercalcaemia, type I, MIM# 145980","Hyperparathyroidism, neonatal, MIM# 239200"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":117,"hash_id":null,"name":"Hypercalcaemia","disease_group":"Endocrine disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. For all disorders associated with abnormalities in calcium metabolism the Calcium and Phosphate disorders panel is recommended.\r\n\r\nWilliams syndrome is a relatively common cause of hypercalcaemia in infants and should be excluded first using chromosomal microarray (CMA).","status":"public","version":"1.2","version_created":"2023-01-03T17:40:50.155481+11:00","relevant_disorders":["Hypercalcemia","HP:0003072"],"stats":{"number_of_genes":12,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NR1I1","PPP1R163"],"biotype":"protein_coding","hgnc_id":"HGNC:12679","gene_name":"vitamin D receptor","omim_gene":["601769"],"alias_name":["protein phosphatase 1, regulatory subunit 163","1,25- dihydroxyvitamin D3 receptor"],"gene_symbol":"VDR","hgnc_symbol":"VDR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:48235320-48336831","ensembl_id":"ENSG00000111424"}},"GRch38":{"90":{"location":"12:47841537-47943048","ensembl_id":"ENSG00000111424"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"VDR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["2849209, 9005998, 17970811"],"evidence":["Expert List","Expert Review Green"],"phenotypes":["Rickets, vitamin D-resistant, type IIA, MIM# 277440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":122,"hash_id":null,"name":"Hypophosphataemia or rickets","disease_group":"Endocrine disorders; 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It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLYT1"],"biotype":"protein_coding","hgnc_id":"HGNC:11056","gene_name":"solute carrier family 6 member 9","omim_gene":["601019"],"alias_name":null,"gene_symbol":"SLC6A9","hgnc_symbol":"SLC6A9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:44457172-44497139","ensembl_id":"ENSG00000196517"}},"GRch38":{"90":{"location":"1:43991500-44031467","ensembl_id":"ENSG00000196517"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"SLC6A9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27481395","27773429","14622582","33269555"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Glycine encephalopathy with normal serum glycine, MIM# 617301","Scoliosis, isolated, susceptibility to, 6, MIM# 621428"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11188","gene_name":"SOS Ras/Rho guanine nucleotide exchange factor 2","omim_gene":["601247"],"alias_name":null,"gene_symbol":"SOS2","hgnc_symbol":"SOS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50583847-50698276","ensembl_id":"ENSG00000100485"}},"GRch38":{"90":{"location":"14:50117120-50231558","ensembl_id":"ENSG00000100485"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["26173643","25795793","32788663"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Noonan syndrome 9, MIM#616559, AD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:37247","gene_name":"BLOC-1 related complex subunit 8","omim_gene":["616601"],"alias_name":null,"gene_symbol":"BORCS8","hgnc_symbol":"BORCS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19287712-19303400","ensembl_id":"ENSG00000254901"}},"GRch38":{"90":{"location":"19:19176903-19192591","ensembl_id":"ENSG00000254901"}}},"hgnc_date_symbol_changed":"2015-08-07"},"entity_type":"gene","entity_name":"BORCS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38128568"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4317","gene_name":"GLI family zinc finger 1","omim_gene":["165220"],"alias_name":null,"gene_symbol":"GLI1","hgnc_symbol":"GLI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57853918-57866045","ensembl_id":"ENSG00000111087"}},"GRch38":{"90":{"location":"12:57460135-57472262","ensembl_id":"ENSG00000111087"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"GLI1","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["34721536","31621941","31549748","30620395"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Postaxial polydactyly MONDO:0020927, GLI1-related","Polydactyly, postaxial, type A8 MIM#618123","Polydactyly, preaxial I MIM#174400"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIGEA14","PIGEA-14","Chibby","Cby"],"biotype":"protein_coding","hgnc_id":"HGNC:1307","gene_name":"chibby family member 1, beta catenin antagonist","omim_gene":["607757"],"alias_name":["chibby CTNNB1-mediated transcription inhibitor"],"gene_symbol":"CBY1","hgnc_symbol":"CBY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:39052641-39069859","ensembl_id":"ENSG00000100211"}},"GRch38":{"90":{"location":"22:38656636-38673854","ensembl_id":"ENSG00000100211"}}},"hgnc_date_symbol_changed":"2007-01-26"},"entity_type":"gene","entity_name":"CBY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["33131181","25103236","25220153"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Joubert syndrome, MONDO:0018772, CBY1-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["GOK","D11S4896E"],"biotype":"protein_coding","hgnc_id":"HGNC:11386","gene_name":"stromal interaction molecule 1","omim_gene":["605921"],"alias_name":null,"gene_symbol":"STIM1","hgnc_symbol":"STIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:3875757-4114439","ensembl_id":"ENSG00000167323"}},"GRch38":{"90":{"location":"11:3854527-4093210","ensembl_id":"ENSG00000167323"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"STIM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["38982518","31448844"],"evidence":["Expert Review Green","Literature","Expert Review Green"],"phenotypes":["tubular aggregate myopathy MONDO:0008051"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"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":[]},{"gene_data":{"alias":["NUP84"],"biotype":"protein_coding","hgnc_id":"HGNC:29914","gene_name":"nucleoporin 107","omim_gene":["607617"],"alias_name":null,"gene_symbol":"NUP107","hgnc_symbol":"NUP107","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69080514-69136785","ensembl_id":"ENSG00000111581"}},"GRch38":{"90":{"location":"12:68686734-68745809","ensembl_id":"ENSG00000111581"}}},"hgnc_date_symbol_changed":"2004-03-19"},"entity_type":"gene","entity_name":"NUP107","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28280135","28117080","30179222","25558065"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Galloway-Mowat syndrome 7, MIM# 618348"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p92","FLJ12386","ADVIL","DOC6"],"biotype":"protein_coding","hgnc_id":"HGNC:14188","gene_name":"advillin","omim_gene":["613397"],"alias_name":null,"gene_symbol":"AVIL","hgnc_symbol":"AVIL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58191159-58212487","ensembl_id":"ENSG00000135407"}},"GRch38":{"90":{"location":"12:57797376-57818704","ensembl_id":"ENSG00000135407"}}},"hgnc_date_symbol_changed":"2002-09-02"},"entity_type":"gene","entity_name":"AVIL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29058690"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Nephrotic syndrome, type 21 MONDO:0032826"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"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":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MAG","EM9","MGC102762","MGC126218","MGC126219","TFIIH"],"biotype":"protein_coding","hgnc_id":"HGNC:3434","gene_name":"ERCC excision repair 2, TFIIH core complex helicase subunit","omim_gene":["126340"],"alias_name":["excision repair cross-complementing rodent repair deficiency, complementation group 2 protein","TFIIH basal transcription factor complex helicase XPB subunit"],"gene_symbol":"ERCC2","hgnc_symbol":"ERCC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45853095-45874176","ensembl_id":"ENSG00000104884"}},"GRch38":{"90":{"location":"19:45349837-45370918","ensembl_id":"ENSG00000104884"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERCC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":152,"hash_id":null,"name":"Cancer Predisposition_Paediatric","disease_group":"Cancer","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.133","version_created":"2026-01-12T09:35:45.797477+11:00","relevant_disorders":[],"stats":{"number_of_genes":106,"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":null},{"gene_data":{"alias":["RZRA","ROR1","ROR2","ROR3","NR1F1"],"biotype":"protein_coding","hgnc_id":"HGNC:10258","gene_name":"RAR related orphan receptor A","omim_gene":["600825"],"alias_name":null,"gene_symbol":"RORA","hgnc_symbol":"RORA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:60780483-61521518","ensembl_id":"ENSG00000069667"}},"GRch38":{"90":{"location":"15:60488284-61229319","ensembl_id":"ENSG00000069667"}}},"hgnc_date_symbol_changed":"1995-04-13"},"entity_type":"gene","entity_name":"RORA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29656859"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BAP2","IRSp53"],"biotype":"protein_coding","hgnc_id":"HGNC:947","gene_name":"BAI1 associated protein 2","omim_gene":["605475"],"alias_name":["insulin receptor substrate of 53 kDa"],"gene_symbol":"BAIAP2","hgnc_symbol":"BAIAP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79008948-79091232","ensembl_id":"ENSG00000175866"}},"GRch38":{"90":{"location":"17:81035122-81117432","ensembl_id":"ENSG00000175866"}}},"hgnc_date_symbol_changed":"1999-02-26"},"entity_type":"gene","entity_name":"BAIAP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41133935","38149472"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Developmental and epileptic encephalopathy 120, MIM# 621468"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CI-24k"],"biotype":"protein_coding","hgnc_id":"HGNC:7717","gene_name":"NADH:ubiquinone oxidoreductase core subunit V2","omim_gene":["600532"],"alias_name":["complex I 24kDa subunit","NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial"],"gene_symbol":"NDUFV2","hgnc_symbol":"NDUFV2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:9102628-9134343","ensembl_id":"ENSG00000178127"}},"GRch38":{"90":{"location":"18:9102630-9134345","ensembl_id":"ENSG00000178127"}}},"hgnc_date_symbol_changed":"1994-09-07"},"entity_type":"gene","entity_name":"NDUFV2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12754703","19167255","26008862","30770271","33811136","34405929"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deep intronic","founder"],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["H17"],"biotype":"protein_coding","hgnc_id":"HGNC:26927","gene_name":"FAD dependent oxidoreductase domain containing 1","omim_gene":["613622"],"alias_name":null,"gene_symbol":"FOXRED1","hgnc_symbol":"FOXRED1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:126138950-126148026","ensembl_id":"ENSG00000110074"}},"GRch38":{"90":{"location":"11:126269055-126278131","ensembl_id":"ENSG00000110074"}}},"hgnc_date_symbol_changed":"2006-02-03"},"entity_type":"gene","entity_name":"FOXRED1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12997","gene_name":"zinc finger and SCAN domain containing 10","omim_gene":null,"alias_name":null,"gene_symbol":"ZSCAN10","hgnc_symbol":"ZSCAN10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3138891-3149318","ensembl_id":"ENSG00000130182"}},"GRch38":{"90":{"location":"16:3088890-3099317","ensembl_id":"ENSG00000130182"}}},"hgnc_date_symbol_changed":"2007-02-20"},"entity_type":"gene","entity_name":"ZSCAN10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38386308"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Otofacial neurodevelopmental syndrome, MIM# 620910"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","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":null},{"gene_data":{"alias":["IKK2","NFKBIKB","IKK-beta","IKKB"],"biotype":"protein_coding","hgnc_id":"HGNC:5960","gene_name":"inhibitor of nuclear factor kappa B kinase subunit beta","omim_gene":["603258"],"alias_name":null,"gene_symbol":"IKBKB","hgnc_symbol":"IKBKB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:42128820-42189973","ensembl_id":"ENSG00000104365"}},"GRch38":{"90":{"location":"8:42271302-42332653","ensembl_id":"ENSG00000104365"}}},"hgnc_date_symbol_changed":"1998-02-11"},"entity_type":"gene","entity_name":"IKBKB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30337470","25216719","24369075"],"evidence":["Expert Review Green","Melbourne Genomics Health Alliance Immunology Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 15A, autosomal dominant, MIM# 618204","Immunodeficiency 15B, autosomal recessive, MIM# 615592"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":223,"hash_id":null,"name":"Combined Immunodeficiency","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause combined immunodeficiencies with associated or syndromic features, including genes classified by the International Union of Immunological Societies Inborn Errors of Immunity Committee (July 2024 update). These include genes that fall into the following subcategories:\r\n- Immunodeficiency with Congenital Thrombocytopenia\r\n- DNA Repair Defects\r\n- Thymic Defects with Additional Congenital Anomalies\r\n- Immuno-osseous Dysplasias\r\n- Hyper IgE Syndromes (HIES)\r\n- Defects of Vitamin B12 and Folate Metabolism\r\n- Anhidrotic Ectodermodysplasia with Immunodeficiency (EDA-ID)\r\n- Calcium Channel Defects\r\n- Other Combined immunodeficiencies with syndromic features\r\n- Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency (Immunodeficiencies affecting cellular and humoral immunity)\r\n\r\nThis panel was originally developed by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital) for the Melbourne Genomics Immunology Flagship.","status":"public","version":"1.145","version_created":"2026-03-02T21:55:19.238904+11:00","relevant_disorders":["Combined immunodeficiency","MONDO:0015131; Combined immunodeficiency","HP:0005387"],"stats":{"number_of_genes":170,"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":["PI3K-C2alpha"],"biotype":"protein_coding","hgnc_id":"HGNC:8971","gene_name":"phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha","omim_gene":["603601"],"alias_name":null,"gene_symbol":"PIK3C2A","hgnc_symbol":"PIK3C2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:17099277-17229530","ensembl_id":"ENSG00000011405"}},"GRch38":{"90":{"location":"11:17077730-17207983","ensembl_id":"ENSG00000011405"}}},"hgnc_date_symbol_changed":"1998-05-21"},"entity_type":"gene","entity_name":"PIK3C2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31034465"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Oculoskeletodental syndrome, 618440"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":250,"hash_id":null,"name":"Intellectual disability syndromic and non-syndromic","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the ID panels used by Genetic Health Queensland and by the Victorian Clinical Genetics Services. 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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":"1.749","version_created":"2026-04-12T14:10:53.388284+10:00","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 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This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"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":["ICF45","FLJ11601","FLJ20546","IHG-1","hTHG1"],"biotype":"protein_coding","hgnc_id":"HGNC:26053","gene_name":"tRNA-histidine guanylyltransferase 1 like","omim_gene":null,"alias_name":["interphase cytoplasmic foci protein 45","induced by high glucose-1"],"gene_symbol":"THG1L","hgnc_symbol":"THG1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:157158205-157168456","ensembl_id":"ENSG00000113272"}},"GRch38":{"90":{"location":"5:157731197-157741448","ensembl_id":"ENSG00000113272"}}},"hgnc_date_symbol_changed":"2006-09-01"},"entity_type":"gene","entity_name":"THG1L","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27307223","30214071","31168944"],"evidence":["Expert Review Amber","Royal Melbourne Hospital"],"phenotypes":["Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COX1","COI"],"biotype":"protein_coding","hgnc_id":"HGNC:7419","gene_name":"mitochondrially encoded cytochrome c oxidase I","omim_gene":["516030"],"alias_name":null,"gene_symbol":"MT-CO1","hgnc_symbol":"MT-CO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5904-7445","ensembl_id":"ENSG00000198804"}},"GRch38":{"90":{"location":"MT:5904-7445","ensembl_id":"ENSG00000198804"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-CO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30743023","39460813","24956508","10441567","10980727","15751226","16284789","18977334","22832341","18276892","30030519"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:890","gene_name":"AU RNA binding methylglutaconyl-CoA hydratase","omim_gene":["600529"],"alias_name":null,"gene_symbol":"AUH","hgnc_symbol":"AUH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:93976097-94124195","ensembl_id":"ENSG00000148090"}},"GRch38":{"90":{"location":"9:91213815-91361913","ensembl_id":"ENSG00000148090"}}},"hgnc_date_symbol_changed":"1995-10-02"},"entity_type":"gene","entity_name":"AUH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["3-Methylglutaconic aciduria type 1","Dystonia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. 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Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:37247","gene_name":"BLOC-1 related complex subunit 8","omim_gene":["616601"],"alias_name":null,"gene_symbol":"BORCS8","hgnc_symbol":"BORCS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:19287712-19303400","ensembl_id":"ENSG00000254901"}},"GRch38":{"90":{"location":"19:19176903-19192591","ensembl_id":"ENSG00000254901"}}},"hgnc_date_symbol_changed":"2015-08-07"},"entity_type":"gene","entity_name":"BORCS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38128568"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD230","PRP","AltPrP"],"biotype":"protein_coding","hgnc_id":"HGNC:9449","gene_name":"prion protein","omim_gene":["176640"],"alias_name":["Creutzfeldt-Jakob disease","Gerstmann-Strausler-Scheinker syndrome","fatal familial insomnia","p27-30"],"gene_symbol":"PRNP","hgnc_symbol":"PRNP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:4666882-4682236","ensembl_id":"ENSG00000171867"}},"GRch38":{"90":{"location":"20:4686236-4701590","ensembl_id":"ENSG00000171867"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PRNP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["25220284","24252267"],"evidence":["Other","Expert Review Green","Expert Review Green","Other"],"phenotypes":["fatal familial insomnia MONDO:0010808"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARSACS","KIAA0730","DKFZp686B15167","DNAJC29","SPAX6","PPP1R138"],"biotype":"protein_coding","hgnc_id":"HGNC:10519","gene_name":"sacsin molecular chaperone","omim_gene":["604490"],"alias_name":["protein phosphatase 1, regulatory subunit 138"],"gene_symbol":"SACS","hgnc_symbol":"SACS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:23902965-24007841","ensembl_id":"ENSG00000151835"}},"GRch38":{"90":{"location":"13:23328826-23411513","ensembl_id":"ENSG00000151835"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"SACS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spastic ataxia, Charlevoix-Saguenay type, MIM@\t270550"],"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":[]},{"gene_data":{"alias":["MDA-5","Hlcd","MDA5","IDDM19"],"biotype":"protein_coding","hgnc_id":"HGNC:18873","gene_name":"interferon induced with helicase C domain 1","omim_gene":["606951"],"alias_name":["helicard","melanoma differentiation-associated gene 5"],"gene_symbol":"IFIH1","hgnc_symbol":"IFIH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:163123589-163175213","ensembl_id":"ENSG00000115267"}},"GRch38":{"90":{"location":"2:162267079-162318703","ensembl_id":"ENSG00000115267"}}},"hgnc_date_symbol_changed":"2004-06-25"},"entity_type":"gene","entity_name":"IFIH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25243380","31427910","24686847","24995871"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Aicardi-Goutieres syndrome 7 MIM#615846"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2073","gene_name":"tripeptidyl peptidase 1","omim_gene":["607998"],"alias_name":["TPP I"],"gene_symbol":"TPP1","hgnc_symbol":"TPP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:6634000-6640692","ensembl_id":"ENSG00000166340"}},"GRch38":{"90":{"location":"11:6612763-6619461","ensembl_id":"ENSG00000166340"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"TPP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27217339"],"evidence":["Expert Review Red","Royal Melbourne Hospital"],"phenotypes":["Ceroid lipofuscinosis neuronal 2, MIM#204500"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:12605","gene_name":"clarin 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VCGS.\r\n\r\nConsider using the broader Deafness_IsolatedAndComplex and Retinal Disorders panels if findings are not specific, and a wider differential is considered, including the possibility of dual diagnosis.","status":"public","version":"1.5","version_created":"2023-01-15T18:08:18.097118+11:00","relevant_disorders":["Usher syndrome","MONDO:0019501"],"stats":{"number_of_genes":20,"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":["erg-3","p55"],"biotype":"protein_coding","hgnc_id":"HGNC:3446","gene_name":"ERG, ETS transcription factor","omim_gene":["165080"],"alias_name":["transcriptional regulator ERG (transforming protein ERG)","v-ets erythroblastosis virus E26 oncogene like","TMPRSS2-ERG prostate cancer specific"],"gene_symbol":"ERG","hgnc_symbol":"ERG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:39751949-40033704","ensembl_id":"ENSG00000157554"}},"GRch38":{"90":{"location":"21:38380027-38661780","ensembl_id":"ENSG00000157554"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ERG","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["36928819"],"evidence":["Literature","Expert Review Green","Expert Review Green","Literature"],"phenotypes":["Lymphatic malformation 14, MIM#\t620602"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3098,"hash_id":null,"name":"Lymphoedema","disease_group":"Cardiovascular disorders","disease_sub_group":"Lymphatic Disorders","description":"The panel contains genes associated with nonsyndromic and 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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":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Neurodegeneration with brain iron accumulation 2B, 610217 (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 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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":["AP-4-EPSILON","SPG51"],"biotype":"protein_coding","hgnc_id":"HGNC:573","gene_name":"adaptor related protein complex 4 epsilon 1 subunit","omim_gene":["607244"],"alias_name":null,"gene_symbol":"AP4E1","hgnc_symbol":"AP4E1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:51200869-51298097","ensembl_id":"ENSG00000081014"}},"GRch38":{"90":{"location":"15:50908672-51005900","ensembl_id":"ENSG00000081014"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP4E1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["20972249","21620353","21937992","32979048","23472171"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Spastic paraplegia 51, autosomal recessive, MIM# 613744"],"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6740","gene_name":"lysozyme","omim_gene":["153450"],"alias_name":["renal amyloidosis"],"gene_symbol":"LYZ","hgnc_symbol":"LYZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:69742121-69748014","ensembl_id":"ENSG00000090382"}},"GRch38":{"90":{"location":"12:69348341-69354234","ensembl_id":"ENSG00000090382"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"LYZ","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Amyloidosis, systemic"],"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":["Cav1.2","CACH2","CACN2","TS","LQT8"],"biotype":"protein_coding","hgnc_id":"HGNC:1390","gene_name":"calcium voltage-gated channel subunit alpha1 C","omim_gene":["114205"],"alias_name":null,"gene_symbol":"CACNA1C","hgnc_symbol":"CACNA1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2079952-2802108","ensembl_id":"ENSG00000151067"}},"GRch38":{"90":{"location":"12:1970786-2697950","ensembl_id":"ENSG00000151067"}}},"hgnc_date_symbol_changed":"1991-01-30"},"entity_type":"gene","entity_name":"CACNA1C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category B gene"],"phenotypes":["Brugada 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":[],"biotype":"protein_coding","hgnc_id":"HGNC:1912","gene_name":"choline O-acetyltransferase","omim_gene":["118490"],"alias_name":null,"gene_symbol":"CHAT","hgnc_symbol":"CHAT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:50817141-50901925","ensembl_id":"ENSG00000070748"}},"GRch38":{"90":{"location":"10:49609095-49665104","ensembl_id":"ENSG00000070748"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"CHAT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Congenital myasthenic 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":["PGA1","APS1"],"biotype":"protein_coding","hgnc_id":"HGNC:360","gene_name":"autoimmune regulator","omim_gene":["607358"],"alias_name":["autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"],"gene_symbol":"AIRE","hgnc_symbol":"AIRE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:45705721-45718531","ensembl_id":"ENSG00000160224"}},"GRch38":{"90":{"location":"21:44285838-44298648","ensembl_id":"ENSG00000160224"}}},"hgnc_date_symbol_changed":"1997-09-05"},"entity_type":"gene","entity_name":"AIRE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia"],"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":["AP2-B"],"biotype":"protein_coding","hgnc_id":"HGNC:11743","gene_name":"transcription factor AP-2 beta","omim_gene":["601601"],"alias_name":null,"gene_symbol":"TFAP2B","hgnc_symbol":"TFAP2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:50786436-50815326","ensembl_id":"ENSG00000008196"}},"GRch38":{"90":{"location":"6:50818723-50847613","ensembl_id":"ENSG00000008196"}}},"hgnc_date_symbol_changed":"1995-12-18"},"entity_type":"gene","entity_name":"TFAP2B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Char syndrome, MIM# 169100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6408","gene_name":"MAF bZIP transcription factor B","omim_gene":["608968"],"alias_name":null,"gene_symbol":"MAFB","hgnc_symbol":"MAFB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:39314488-39317880","ensembl_id":"ENSG00000204103"}},"GRch38":{"90":{"location":"20:40685848-40689240","ensembl_id":"ENSG00000204103"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"MAFB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27181683","34964110","29779709"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Duane retraction syndrome 3, MIM#\t617041"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CYB560","cybL"],"biotype":"protein_coding","hgnc_id":"HGNC:10682","gene_name":"succinate dehydrogenase complex subunit C","omim_gene":["602413"],"alias_name":["succinate dehydrogenase cytochrome b560 subunit","succinate dehydrgenase cytochrome b","large subunit of cytochrome b"],"gene_symbol":"SDHC","hgnc_symbol":"SDHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161284047-161332984","ensembl_id":"ENSG00000143252"}},"GRch38":{"90":{"location":"1:161314257-161375340","ensembl_id":"ENSG00000143252"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD118"],"biotype":"protein_coding","hgnc_id":"HGNC:6597","gene_name":"LIF receptor alpha","omim_gene":["151443"],"alias_name":null,"gene_symbol":"LIFR","hgnc_symbol":"LIFR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:38475065-38608456","ensembl_id":"ENSG00000113594"}},"GRch38":{"90":{"location":"5:38474963-38608354","ensembl_id":"ENSG00000113594"}}},"hgnc_date_symbol_changed":"1992-08-24"},"entity_type":"gene","entity_name":"LIFR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["OMIM# 601559 STUVE-WIEDEMANN SYNDROME","STWS"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3439,"hash_id":null,"name":"Autonomic neuropathy","disease_group":"Autonomic Neuropathy","disease_sub_group":"","description":"This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).","status":"public","version":"1.2","version_created":"2026-03-24T17:08:06.931372+11:00","relevant_disorders":["Abnormality of the autonomic nervous system HP:0002270"],"stats":{"number_of_genes":19,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["THRB1","THRB2","NR1A2","THR1","ERBA-BETA","GRTH"],"biotype":"protein_coding","hgnc_id":"HGNC:11799","gene_name":"thyroid hormone receptor beta","omim_gene":["190160"],"alias_name":["avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2","oncogene ERBA2","generalized resistance to thyroid hormone","thyroid hormone receptor beta 1"],"gene_symbol":"THRB","hgnc_symbol":"THRB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:24158651-24536773","ensembl_id":"ENSG00000151090"}},"GRch38":{"90":{"location":"3:24117160-24495282","ensembl_id":"ENSG00000151090"}}},"hgnc_date_symbol_changed":"1988-08-31"},"entity_type":"gene","entity_name":"THRB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24847459"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE","THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT","Thyroid hormone resistance, autosomal recessive, 274300","Thyroid Hormone Resistance, Selective Pituitary","Resistance to thyroid hormone (RTH)","145650","PRTH","REFETOFF SYNDROME","THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY","thyroid hormone unresponsiveness, generalized RTH, RTH beta","Thyroid Hormone Resistance (monoallelic)","Thyroid hormone resistance, 188570","Thyroid hormone resistance, selective pituitary, 145650","THYROID HORMONE UNRESPONSIVENESS","THYROID HORMONE UNRESPONSIVENESS HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES","Refetoff syndrome","GRTH"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3471,"hash_id":null,"name":"Congenital hypothyroidism","disease_group":"Endocrine disorders","disease_sub_group":"Thyroid disorders","description":"This panel contains genes associated with congenital hypothyroidism.\r\n\r\nIt has been compared against the Genomics England PanelApp 'congenital hypothyroidism' panel V3.1, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"0.120","version_created":"2026-04-02T11:51:29.895216+11:00","relevant_disorders":["Hypothyroidism HP:0000821"],"stats":{"number_of_genes":63,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12343","MGC20625","MGC21482","MGC26740"],"biotype":"protein_coding","hgnc_id":"HGNC:33499","gene_name":"ATR interacting protein","omim_gene":["606605"],"alias_name":null,"gene_symbol":"ATRIP","hgnc_symbol":"ATRIP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:48488114-48507115","ensembl_id":"ENSG00000164053"}},"GRch38":{"90":{"location":"3:48446710-48465716","ensembl_id":"ENSG00000164053"}}},"hgnc_date_symbol_changed":"2007-06-20"},"entity_type":"gene","entity_name":"ATRIP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23144622"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Seckel-like syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BMP13","KFS","KFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:4221","gene_name":"growth differentiation factor 6","omim_gene":["601147"],"alias_name":null,"gene_symbol":"GDF6","hgnc_symbol":"GDF6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:97154562-97173020","ensembl_id":"ENSG00000156466"}},"GRch38":{"90":{"location":"8:96142330-96160792","ensembl_id":"ENSG00000156466"}}},"hgnc_date_symbol_changed":"1999-04-23"},"entity_type":"gene","entity_name":"GDF6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Multiple synostoses syndrome type 4 - 617898.","Klippel-Feil syndrome 1, autosomal dominant 118100"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":null},{"gene_data":{"alias":["HGF","GF1"],"biotype":"protein_coding","hgnc_id":"HGNC:11187","gene_name":"SOS Ras/Rac guanine nucleotide exchange factor 1","omim_gene":["182530"],"alias_name":null,"gene_symbol":"SOS1","hgnc_symbol":"SOS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:39208537-39351486","ensembl_id":"ENSG00000115904"}},"GRch38":{"90":{"location":"2:38981396-39124345","ensembl_id":"ENSG00000115904"}}},"hgnc_date_symbol_changed":"1993-10-27"},"entity_type":"gene","entity_name":"SOS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["17143285","17143282","28884940","17586837"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Noonan syndrome 4, MIM# 610733"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA0733"],"biotype":"protein_coding","hgnc_id":"HGNC:17075","gene_name":"TGF-beta activated kinase 1/MAP3K7 binding protein 2","omim_gene":["605101"],"alias_name":null,"gene_symbol":"TAB2","hgnc_symbol":"TAB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:149539777-149732749","ensembl_id":"ENSG00000055208"}},"GRch38":{"90":{"location":"6:149218641-149411613","ensembl_id":"ENSG00000055208"}}},"hgnc_date_symbol_changed":"2010-02-05"},"entity_type":"gene","entity_name":"TAB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34456334"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like","Congenital heart defects, nonsyndromic, 2 (MIM#614980)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RPA40","RPA39","RPA5","RPAC1"],"biotype":"protein_coding","hgnc_id":"HGNC:20194","gene_name":"RNA polymerase I subunit C","omim_gene":["610060"],"alias_name":null,"gene_symbol":"POLR1C","hgnc_symbol":"POLR1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:43477440-43497323","ensembl_id":"ENSG00000171453"}},"GRch38":{"90":{"location":"6:43509702-43529585","ensembl_id":"ENSG00000171453"}}},"hgnc_date_symbol_changed":"2003-04-01"},"entity_type":"gene","entity_name":"POLR1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26151409"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Treacher Collins syndrome 3, MIM# 248390"],"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":["KIAA0609"],"biotype":"protein_coding","hgnc_id":"HGNC:6511","gene_name":"LARGE xylosyl- and glucuronyltransferase 1","omim_gene":["603590"],"alias_name":["like-acetylglucosaminyltransferase"],"gene_symbol":"LARGE1","hgnc_symbol":"LARGE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:33558212-34318829","ensembl_id":"ENSG00000133424"}},"GRch38":{"90":{"location":"22:33162226-33922841","ensembl_id":"ENSG00000133424"}}},"hgnc_date_symbol_changed":"2016-05-31"},"entity_type":"gene","entity_name":"LARGE1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17436019"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154"],"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:18708","gene_name":"glutamate receptor interacting protein 1","omim_gene":["604597"],"alias_name":null,"gene_symbol":"GRIP1","hgnc_symbol":"GRIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66741211-67197966","ensembl_id":"ENSG00000155974"}},"GRch38":{"90":{"location":"12:66347431-66804186","ensembl_id":"ENSG00000155974"}}},"hgnc_date_symbol_changed":"2002-05-29"},"entity_type":"gene","entity_name":"GRIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22510445","27859469","31982235"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Fraser syndrome 3 MIM#617667"],"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":["bK3184A7.3","NHL","DKFZP434C013","KIAA1088","RTEL"],"biotype":"protein_coding","hgnc_id":"HGNC:15888","gene_name":"regulator of telomere elongation helicase 1","omim_gene":["608833"],"alias_name":null,"gene_symbol":"RTEL1","hgnc_symbol":"RTEL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62289163-62328416","ensembl_id":"ENSG00000258366"}},"GRch38":{"90":{"location":"20:63657810-63696253","ensembl_id":"ENSG00000258366"}}},"hgnc_date_symbol_changed":"2004-10-29"},"entity_type":"gene","entity_name":"RTEL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373","Dyskeratosis congenita, MIM# 615190"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"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":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HUG-BR2","UGT1D"],"biotype":"protein_coding","hgnc_id":"HGNC:12536","gene_name":"UDP glucuronosyltransferase family 1 member A4","omim_gene":["606429"],"alias_name":null,"gene_symbol":"UGT1A4","hgnc_symbol":"UGT1A4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:234627424-234681945","ensembl_id":"ENSG00000244474"}},"GRch38":{"90":{"location":"2:233718778-233773299","ensembl_id":"ENSG00000244474"}}},"hgnc_date_symbol_changed":"2000-06-22"},"entity_type":"gene","entity_name":"UGT1A4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Crigler-Najjar syndrome"],"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":["treacle","TCS"],"biotype":"protein_coding","hgnc_id":"HGNC:11654","gene_name":"treacle ribosome biogenesis factor 1","omim_gene":["606847"],"alias_name":null,"gene_symbol":"TCOF1","hgnc_symbol":"TCOF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:149737202-149779871","ensembl_id":"ENSG00000070814"}},"GRch38":{"90":{"location":"5:150357639-150400308","ensembl_id":"ENSG00000070814"}}},"hgnc_date_symbol_changed":"1991-05-21"},"entity_type":"gene","entity_name":"TCOF1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category A gene"],"phenotypes":["Treacher Collins syndrome 1, MIM# 154500"],"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":["CYPOR","FLJ26468"],"biotype":"protein_coding","hgnc_id":"HGNC:9208","gene_name":"cytochrome p450 oxidoreductase","omim_gene":["124015"],"alias_name":null,"gene_symbol":"POR","hgnc_symbol":"POR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:75528518-75616173","ensembl_id":"ENSG00000127948"}},"GRch38":{"90":{"location":"7:75899200-75986855","ensembl_id":"ENSG00000127948"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"POR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750","Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","endocrine"],"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":["RPC2","FLJ10388"],"biotype":"protein_coding","hgnc_id":"HGNC:30348","gene_name":"RNA polymerase III subunit B","omim_gene":["614366"],"alias_name":null,"gene_symbol":"POLR3B","hgnc_symbol":"POLR3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:106751436-106903976","ensembl_id":"ENSG00000013503"}},"GRch38":{"90":{"location":"12:106357658-106510198","ensembl_id":"ENSG00000013503"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27512013","23355746","22036171","22036172","25339210","33005949","22855961","33417887"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381"],"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":["EIF2Bgamma","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3259","gene_name":"eukaryotic translation initiation factor 2B subunit gamma","omim_gene":["606273"],"alias_name":null,"gene_symbol":"EIF2B3","hgnc_symbol":"EIF2B3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45316450-45452282","ensembl_id":"ENSG00000070785"}},"GRch38":{"90":{"location":"1:44850522-44986722","ensembl_id":"ENSG00000070785"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11835386","19158808","21484434","18263758","25843247","25761052","28904586","28597716"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313"],"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":["CHAK2","FLJ22628"],"biotype":"protein_coding","hgnc_id":"HGNC:17995","gene_name":"transient receptor potential cation channel subfamily M member 6","omim_gene":["607009"],"alias_name":null,"gene_symbol":"TRPM6","hgnc_symbol":"TRPM6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:77337411-77503010","ensembl_id":"ENSG00000119121"}},"GRch38":{"90":{"location":"9:74722495-74888094","ensembl_id":"ENSG00000119121"}}},"hgnc_date_symbol_changed":"2002-01-11"},"entity_type":"gene","entity_name":"TRPM6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["35903165","18818955"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypomagnesemia 1, intestinal MIM#602014"],"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":["HSD17B9","SDR9C5"],"biotype":"protein_coding","hgnc_id":"HGNC:9940","gene_name":"retinol dehydrogenase 5","omim_gene":["601617"],"alias_name":["short chain dehydrogenase/reductase family 9C, member 5"],"gene_symbol":"RDH5","hgnc_symbol":"RDH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:56114151-56118489","ensembl_id":"ENSG00000135437"}},"GRch38":{"90":{"location":"12:55720367-55724705","ensembl_id":"ENSG00000135437"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"RDH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32232344","10369264"],"evidence":["Expert Review Green"],"phenotypes":["Fundus albipunctatus","Other disorders of vitamin metabolism"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4396","gene_name":"G protein subunit beta 1","omim_gene":["139380"],"alias_name":["transducin beta chain 1","guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"],"gene_symbol":"GNB1","hgnc_symbol":"GNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1716729-1822495","ensembl_id":"ENSG00000078369"}},"GRch38":{"90":{"location":"1:1785285-1891117","ensembl_id":"ENSG00000078369"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNB1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["32345733"],"evidence":["Expert Review Red","Expert Review","Expert list"],"phenotypes":["Intellectual developmental disorder, autosomal dominant 42, MIM# 616973"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7765","gene_name":"neurofibromin 1","omim_gene":["613113"],"alias_name":["neurofibromatosis","von Recklinghausen disease","Watson disease"],"gene_symbol":"NF1","hgnc_symbol":"NF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:29421945-29709134","ensembl_id":"ENSG00000196712"}},"GRch38":{"90":{"location":"17:31094927-31382116","ensembl_id":"ENSG00000196712"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"NF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Soft tissue sarcoma, MONDO:0018078","Sarcoma, MONDO:0005089","Neurofibromatosis type 1, MONDO:0018975","Neurofibromatosis, type 1, MIM#162200"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4358,"hash_id":null,"name":"Sarcoma soft tissue","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with soft tissue sarcoma.\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 soft tissue sarcoma 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":"2026-01-12T09:39:55.152718+11:00","relevant_disorders":[],"stats":{"number_of_genes":17,"number_of_strs":0,"number_of_regions":1},"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":["Malignant pancreatic neoplasm, MONDO:0009831","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":4370,"hash_id":null,"name":"Pancreatic Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with pancreatic cancer. \r\n\r\nFurther information on the testing criteria for pancreatic cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3906-pancreatic-cancer-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 pancreatic 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":"2024-11-01T16:32:06.575750+11:00","relevant_disorders":[],"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":"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":[]}]}