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Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"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":["KCR1"],"biotype":"protein_coding","hgnc_id":"HGNC:31088","gene_name":"ALG10B, alpha-1,2-glucosyltransferase","omim_gene":null,"alias_name":["potassium channel regulator 1","dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"],"gene_symbol":"ALG10B","hgnc_symbol":"ALG10B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:38710380-38717784","ensembl_id":"ENSG00000175548"}},"GRch38":{"90":{"location":"12:38316578-38329728","ensembl_id":"ENSG00000175548"}}},"hgnc_date_symbol_changed":"2004-11-30"},"entity_type":"gene","entity_name":"ALG10B","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["37071726"],"evidence":["ClinGen","ClinGen"],"phenotypes":["long QT syndrome MONDO:0002442"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":131,"hash_id":null,"name":"Long QT Syndrome","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.","status":"public","version":"0.63","version_created":"2026-02-06T09:22:25.758996+11:00","relevant_disorders":["Prolonged QT interval","HP:0001657"],"stats":{"number_of_genes":18,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9679","gene_name":"protein tyrosine phosphatase, receptor type Q","omim_gene":["603317"],"alias_name":null,"gene_symbol":"PTPRQ","hgnc_symbol":"PTPRQ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:80799774-81072802","ensembl_id":"ENSG00000139304"}},"GRch38":{"90":{"location":"12:80402178-80680234","ensembl_id":"ENSG00000139304"}}},"hgnc_date_symbol_changed":"1998-03-24"},"entity_type":"gene","entity_name":"PTPRQ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33229591","20346435","20472657","25919374","14534255","22357859","29849575","29309402","31655630"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 84A, MIM# 613391","Deafness, autosomal dominant 73, MIM# 617663"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:1184","gene_name":"chromosome 12 open reading frame 4","omim_gene":["616082"],"alias_name":null,"gene_symbol":"C12orf4","hgnc_symbol":"C12orf4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:4596894-4647674","ensembl_id":"ENSG00000047621"}},"GRch38":{"90":{"location":"12:4487728-4538508","ensembl_id":"ENSG00000047621"}}},"hgnc_date_symbol_changed":"2000-08-24"},"entity_type":"gene","entity_name":"C12orf4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34967075","31334606","27311568","25558065","28097321"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 66 MIM#618221"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:2918","gene_name":"distal-less homeobox 5","omim_gene":["600028"],"alias_name":null,"gene_symbol":"DLX5","hgnc_symbol":"DLX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:96649704-96654409","ensembl_id":"ENSG00000105880"}},"GRch38":{"90":{"location":"7:97020392-97025097","ensembl_id":"ENSG00000105880"}}},"hgnc_date_symbol_changed":"1994-05-24"},"entity_type":"gene","entity_name":"DLX5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22121204","24496061","25196357","20534536","12112878","41760400"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600","Split-hand/foot malformation 1 MIM#183600"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["DKFZp434F2322"],"biotype":"protein_coding","hgnc_id":"HGNC:23015","gene_name":"FAM20A, golgi associated secretory pathway pseudokinase","omim_gene":["611062"],"alias_name":null,"gene_symbol":"FAM20A","hgnc_symbol":"FAM20A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:66531254-66597530","ensembl_id":"ENSG00000108950"}},"GRch38":{"90":{"location":"17:68535113-68601389","ensembl_id":"ENSG00000108950"}}},"hgnc_date_symbol_changed":"2003-09-03"},"entity_type":"gene","entity_name":"FAM20A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23434854","23697977","23468644","24756937","21549343","24259279","24196488","26502894","25827751","21990045"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["EFG2","FLJ21661"],"biotype":"protein_coding","hgnc_id":"HGNC:29682","gene_name":"G elongation factor mitochondrial 2","omim_gene":["606544"],"alias_name":null,"gene_symbol":"GFM2","hgnc_symbol":"GFM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:74017029-74063196","ensembl_id":"ENSG00000164347"}},"GRch38":{"90":{"location":"5:74721204-74767371","ensembl_id":"ENSG00000164347"}}},"hgnc_date_symbol_changed":"2004-09-30"},"entity_type":"gene","entity_name":"GFM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22700954","26016410","29075935"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 39, OMIM #618397"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["nicein-125kDa","kalinin-140kDa","BM600-125kDa"],"biotype":"protein_coding","hgnc_id":"HGNC:6490","gene_name":"laminin subunit beta 3","omim_gene":["150310"],"alias_name":null,"gene_symbol":"LAMB3","hgnc_symbol":"LAMB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:209788215-209825811","ensembl_id":"ENSG00000196878"}},"GRch38":{"90":{"location":"1:209614870-209652466","ensembl_id":"ENSG00000196878"}}},"hgnc_date_symbol_changed":"1993-12-14"},"entity_type":"gene","entity_name":"LAMB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11023379","7706760","23958762","7706760","23632796","26502894","27220909","25769099","24494736"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Amelogenesis imperfecta, type IA, MIM# 104530","Epidermolysis bullosa, junctional 1A, intermediate MIM#226650","Epidermolysis bullosa, junctional 1B, severe MIM#226700"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["OL-PCDH","KIAA1400"],"biotype":"protein_coding","hgnc_id":"HGNC:13404","gene_name":"protocadherin 10","omim_gene":["608286"],"alias_name":null,"gene_symbol":"PCDH10","hgnc_symbol":"PCDH10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:134070470-134129356","ensembl_id":"ENSG00000138650"}},"GRch38":{"90":{"location":"4:133149315-133208606","ensembl_id":"ENSG00000138650"}}},"hgnc_date_symbol_changed":"2001-06-25"},"entity_type":"gene","entity_name":"PCDH10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["27567313","18621663"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Autism"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["p62","p60","p62B","A170"],"biotype":"protein_coding","hgnc_id":"HGNC:11280","gene_name":"sequestosome 1","omim_gene":["601530"],"alias_name":null,"gene_symbol":"SQSTM1","hgnc_symbol":"SQSTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:179233388-179265078","ensembl_id":"ENSG00000161011"}},"GRch38":{"90":{"location":"5:179806398-179838078","ensembl_id":"ENSG00000161011"}}},"hgnc_date_symbol_changed":"2000-06-13"},"entity_type":"gene","entity_name":"SQSTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27545679"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145"],"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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beta-1"],"gene_symbol":"TGFB1","hgnc_symbol":"TGFB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:41807492-41859816","ensembl_id":"ENSG00000105329"}},"GRch38":{"90":{"location":"19:41301587-41353911","ensembl_id":"ENSG00000105329"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TGFB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301335","30034812","39014191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Camurati-Engelmann disease MONDO:0007542"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":150,"hash_id":null,"name":"Osteopetrosis","disease_group":"Skeletal disorders","disease_sub_group":"","description":"This panel contains genes associated with osteopetrosis, a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodelling leading to generalized osteosclerosis.\r\n\r\nThe panel includes skeletal dysplasias and syndromic disorders associated with bone sclerosis that can overlap with the clinical presentation of classical osteopetrosis.\r\n\r\nThis panel was developed and is maintained by VCGS. It has been compared against the Genomics England PanelApp 'osteopetrosis' panel V1.35, with all discrepancies reviewed and resolved (August 2025).\r\n\r\nUpdated following literature review December 2025.","status":"public","version":"1.0","version_created":"2025-12-22T12:45:57.007049+11:00","relevant_disorders":["Increased bone mineral density","HP:0011001"],"stats":{"number_of_genes":37,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Spink3","PCTT","PSTI","TATI"],"biotype":"protein_coding","hgnc_id":"HGNC:11244","gene_name":"serine peptidase inhibitor, Kazal type 1","omim_gene":["167790"],"alias_name":null,"gene_symbol":"SPINK1","hgnc_symbol":"SPINK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:147204131-147211349","ensembl_id":"ENSG00000164266"}},"GRch38":{"90":{"location":"5:147824568-147831786","ensembl_id":"ENSG00000164266"}}},"hgnc_date_symbol_changed":"1988-06-27"},"entity_type":"gene","entity_name":"SPINK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10835640","11355022","11938439","16823394","17274009","27535533"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tropical calcific pancreatitis, MIM# 608189","Pancreatitis, hereditary, MIM# 167800"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":154,"hash_id":null,"name":"Pancreatitis","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and contains genes associated with hereditary pancreatitis. The aetiology of recurrent acute and chronic pancreatitis is often multifactorial, and common variants in several genes have been implicated in susceptibility.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Pancreatitis' panel, with all differences resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.6","version_created":"2024-08-08T07:17:52.187056+10:00","relevant_disorders":["Pancreatitis","HP:0001733"],"stats":{"number_of_genes":9,"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":["FLJ25621","FLJ20147","FLJ33312","MGC45492","DKFZp779F115"],"biotype":"protein_coding","hgnc_id":"HGNC:24731","gene_name":"NHL repeat containing 2","omim_gene":null,"alias_name":null,"gene_symbol":"NHLRC2","hgnc_symbol":"NHLRC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:115614420-115676953","ensembl_id":"ENSG00000196865"}},"GRch38":{"90":{"location":"10:113854661-113917194","ensembl_id":"ENSG00000196865"}}},"hgnc_date_symbol_changed":"2004-05-27"},"entity_type":"gene","entity_name":"NHLRC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29423877","32435055"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":162,"hash_id":null,"name":"Pulmonary Fibrosis_Interstitial Lung Disease","disease_group":"Respiratory disorders","disease_sub_group":"","description":"This panel includes genes causing lung fibrosis across the age spectrum. The paediatric manifestations include the childhood interstitial lung diseases (chILD), which are characterised by remodelling of lung parenchyma leading to abnormal gas exchange and have been classified broadly into those that occur during infancy (<2 years of age) and those that are not specific to infancy (>2 years of age). These childhood presentations are generally distinct from the presentations of ILD in older adults, which primarily manifests as Idiopathic Pulmonary Fibrosis (IPF).\r\n\r\nThis panel was originally developed by VCGS. It incorporates the panel used by chILDRANZ, the Australian Genomics Childhood Interstitial Lung Disease Flagship study, PMID: 36085161, with thanks to Dr Suzanna Lindsey-Temple.\r\n\r\nDepending on the specific clinical findings, please also consider the Pulmonary Arterial Hypertension, Immunological Disorders_Superpanel, and the Ciliary Dyskinesia panels.\r\n\r\nUpdated following literature review 19/12/2025.","status":"public","version":"1.10","version_created":"2026-03-17T11:39:32.713501+11:00","relevant_disorders":["Pulmonary fibrosis","HP:0002206; Abnormal pulmonary interstitial morphology","HP:0006530"],"stats":{"number_of_genes":97,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ10719"],"biotype":"protein_coding","hgnc_id":"HGNC:25568","gene_name":"Fanconi anemia complementation group I","omim_gene":["611360"],"alias_name":null,"gene_symbol":"FANCI","hgnc_symbol":"FANCI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:89787180-89860492","ensembl_id":"ENSG00000140525"}},"GRch38":{"90":{"location":"15:89243949-89317261","ensembl_id":"ENSG00000140525"}}},"hgnc_date_symbol_changed":"2007-05-03"},"entity_type":"gene","entity_name":"FANCI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17452773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group I, MIM# 609053","MONDO:0012186"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":163,"hash_id":null,"name":"Radial Ray Abnormalities","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 against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"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":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["XAP104","H105e3","SDR31E1"],"biotype":"protein_coding","hgnc_id":"HGNC:13398","gene_name":"NAD(P) dependent steroid dehydrogenase-like","omim_gene":["300275"],"alias_name":["short chain dehydrogenase/reductase family 31E, member 1"],"gene_symbol":"NSDHL","hgnc_symbol":"NSDHL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:151999511-152038273","ensembl_id":"ENSG00000147383"}},"GRch38":{"90":{"location":"X:152830967-152869729","ensembl_id":"ENSG00000147383"}}},"hgnc_date_symbol_changed":"2004-04-30"},"entity_type":"gene","entity_name":"NSDHL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129721","15689440","25900314"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["CK syndrome (MIM#300831)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["RAFT1","RAPT1","FLJ44809"],"biotype":"protein_coding","hgnc_id":"HGNC:3942","gene_name":"mechanistic target of rapamycin kinase","omim_gene":["601231"],"alias_name":["FK506 binding protein 12-rapamycin associated protein 2","rapamycin target protein","FKBP12-rapamycin complex-associated protein 1","FKBP-rapamycin associated protein","rapamycin associated protein FRAP2","dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)","rapamycin and FKBP12 target 1","mammalian target of rapamycin"],"gene_symbol":"MTOR","hgnc_symbol":"MTOR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:11166592-11322564","ensembl_id":"ENSG00000198793"}},"GRch38":{"90":{"location":"1:11106535-11262507","ensembl_id":"ENSG00000198793"}}},"hgnc_date_symbol_changed":"2009-05-29"},"entity_type":"gene","entity_name":"MTOR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["28892148","25878179","26018084"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship","Victorian Clinical Genetics Services"],"phenotypes":["Smith-Kingsmore syndrome, MIM# 616638","Focal cortical dysplasia, type II, somatic, MIM# 607341","Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283"],"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":"1.409","version_created":"2026-04-18T18:50:54.267331+10:00","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":["FLJ10618","PNC2"],"biotype":"protein_coding","hgnc_id":"HGNC:25554","gene_name":"solute carrier family 25 member 36","omim_gene":["616149"],"alias_name":null,"gene_symbol":"SLC25A36","hgnc_symbol":"SLC25A36","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:140660672-140698775","ensembl_id":"ENSG00000114120"}},"GRch38":{"90":{"location":"3:140941830-140979933","ensembl_id":"ENSG00000114120"}}},"hgnc_date_symbol_changed":"2005-06-03"},"entity_type":"gene","entity_name":"SLC25A36","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34971397","34576089","31036718"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":203,"hash_id":null,"name":"Mitochondrial disease","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed by the Australian Genomics Mitochondrial Disease Flagship and was further refined by merging the panels used by VCGS and RMH.\r\n\r\nThis panel contains: (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis (Mayr et al, 2015, PMID:25778941) as well as (6) a small number of other conditions that can mimic mitochondrial disorders.\r\n\r\nPlease note the panel contains mitochondrially encoded genes. These may only be sequenced and analysed using particular assays such as mitochondrial genome sequencing or whole genome sequencing. Please check with the testing laboratory whether these genes are included in analysis.\r\n\r\nThis panel has been compared against the Genomics England PanelApp Mitochondrial Disorders panel, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England 23/03/2020.\r\n\r\nUpdated following literature review 17/12/2025.","status":"public","version":"1.16","version_created":"2026-03-13T18:22:35.610861+11:00","relevant_disorders":["Increased serum lactate","HP:0002151; Abnormality of mitochondrial metabolism","HP:0003287"],"stats":{"number_of_genes":438,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12541"],"biotype":"protein_coding","hgnc_id":"HGNC:30650","gene_name":"stimulated by retinoic acid 6","omim_gene":["610745"],"alias_name":["retinol binding protein 4 receptor"],"gene_symbol":"STRA6","hgnc_symbol":"STRA6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:74471807-74504608","ensembl_id":"ENSG00000137868"}},"GRch38":{"90":{"location":"15:74179466-74212267","ensembl_id":"ENSG00000137868"}}},"hgnc_date_symbol_changed":"2004-12-20"},"entity_type":"gene","entity_name":"STRA6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":205,"hash_id":null,"name":"Callosome","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.593","version_created":"2026-04-02T11:47:10.809612+11:00","relevant_disorders":["Abnormal corpus callosum morphology","HP:0001273"],"stats":{"number_of_genes":459,"number_of_strs":2,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1915"],"biotype":"protein_coding","hgnc_id":"HGNC:29401","gene_name":"Myb like, SWIRM and MPN domains 1","omim_gene":["612176"],"alias_name":null,"gene_symbol":"MYSM1","hgnc_symbol":"MYSM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:59120411-59165764","ensembl_id":"ENSG00000162601"}},"GRch38":{"90":{"location":"1:58654739-58700092","ensembl_id":"ENSG00000162601"}}},"hgnc_date_symbol_changed":"2005-07-14"},"entity_type":"gene","entity_name":"MYSM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24288411","28115216","26220525","32640305"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Bone marrow failure syndrome 4, MIM#618116"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"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":[]},{"gene_data":{"alias":["FLJ22341","RHBDL5","TOCG","iRhom2"],"biotype":"protein_coding","hgnc_id":"HGNC:20788","gene_name":"rhomboid 5 homolog 2","omim_gene":["614404"],"alias_name":null,"gene_symbol":"RHBDF2","hgnc_symbol":"RHBDF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:74466973-74497872","ensembl_id":"ENSG00000129667"}},"GRch38":{"90":{"location":"17:76470891-76501790","ensembl_id":"ENSG00000129667"}}},"hgnc_date_symbol_changed":"2006-02-22"},"entity_type":"gene","entity_name":"RHBDF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34937930"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Pneumonia","Colitis","Immunodeficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":229,"hash_id":null,"name":"Disorders of immune dysregulation","disease_group":"Immunological disorders","disease_sub_group":"","description":"This panel contains genes that cause diseases of immune dysregulation, including:\r\n- Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)\r\n- FHL Syndromes with Hypopigmentation\r\n- Regulatory T Cell Defects\r\n- Autoimmunity with or without Lymphoproliferation\r\n- Immune Dysregulation with Colitis\r\n- Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)\r\n- Susceptibility to EBV and Lymphoproliferative Conditions\r\n\r\nUpdated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.\r\n\r\nThis panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).","status":"public","version":"1.43","version_created":"2026-04-06T13:01:39.255117+10:00","relevant_disorders":["Immune dysregulation","HP:0002958"],"stats":{"number_of_genes":118,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp564K142","IAP","OST3B","MRX95"],"biotype":"protein_coding","hgnc_id":"HGNC:28880","gene_name":"magnesium transporter 1","omim_gene":["300715"],"alias_name":["oligosaccharyltransferase 3 homolog B (S. 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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":"1.753","version_created":"2026-04-20T16:26:20.852704+10:00","relevant_disorders":["Intellectual disability","HP:0001249; Neurodevelopmental delay","HP:0012758"],"stats":{"number_of_genes":2524,"number_of_strs":10,"number_of_regions":57},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NOT56L","Not56","CDGS4","D16Ertd36e"],"biotype":"protein_coding","hgnc_id":"HGNC:23056","gene_name":"ALG3, alpha-1,3- mannosyltransferase","omim_gene":["608750"],"alias_name":["carbohydrate deficient glycoprotein syndrome type IV","dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase","dol-P-Man dependent alpha-1,3- mannosyltransferase"],"gene_symbol":"ALG3","hgnc_symbol":"ALG3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183960089-183967336","ensembl_id":"ENSG00000214160"}},"GRch38":{"90":{"location":"3:184242301-184249548","ensembl_id":"ENSG00000214160"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"ALG3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","NHS 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Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23590"],"biotype":"protein_coding","hgnc_id":"HGNC:966","gene_name":"Bardet-Biedl syndrome 1","omim_gene":["209901"],"alias_name":null,"gene_symbol":"BBS1","hgnc_symbol":"BBS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:66278077-66301098","ensembl_id":"ENSG00000174483"}},"GRch38":{"90":{"location":"11:66510606-66533627","ensembl_id":"ENSG00000174483"}}},"hgnc_date_symbol_changed":"1994-01-28"},"entity_type":"gene","entity_name":"BBS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11567139","12118255","12677556","12567324","12524598","23143442"],"evidence":["Expert Review Green","Expert list","Expert Review Green","Emory Genetics Laboratory","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Polydactyly","Bardet-Biedl syndrome 1 209900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10896","gene_name":"SKI proto-oncogene","omim_gene":["164780"],"alias_name":null,"gene_symbol":"SKI","hgnc_symbol":"SKI","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:2160134-2241558","ensembl_id":"ENSG00000157933"}},"GRch38":{"90":{"location":"1:2228695-2310119","ensembl_id":"ENSG00000157933"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SKI","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review Green","Expert list","Radboud University Medical Center, Nijmegen","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Shprintzen-Goldberg syndrome 182212"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ23119","KIAA1790","Roco1","RIPK6"],"biotype":"protein_coding","hgnc_id":"HGNC:18608","gene_name":"leucine rich repeat kinase 1","omim_gene":["610986"],"alias_name":null,"gene_symbol":"LRRK1","hgnc_symbol":"LRRK1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101459420-101610317","ensembl_id":"ENSG00000154237"}},"GRch38":{"90":{"location":"15:100919215-101078254","ensembl_id":"ENSG00000154237"}}},"hgnc_date_symbol_changed":"2004-01-22"},"entity_type":"gene","entity_name":"LRRK1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27829680","27055475","31571209","32119750"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Osteosclerotic metaphyseal dysplasia (OSMD) (OMIM: 615198)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":258,"hash_id":null,"name":"Skeletal dysplasia","disease_group":"Skeletal disorders","disease_sub_group":"Skeletal dysplasias","description":"This panel contains genes associated with skeletal dysplasias. \r\n\r\nIt has been compared against the Genomics England PanelApp 'Skeletal dysplasia' panel V8.6, with all discrepancies reviewed and resolved (January 2026).\r\n\r\nDepending on the specific clinical features present, consider applying the Osteogenesis Imperfecta, Osteoporosis and Osteopetrosis, and Hypophosphataemia or rickets panels.","status":"public","version":"0.430","version_created":"2026-04-02T18:26:54.505675+11:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":6},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RGI1","LCA6","CORD13"],"biotype":"protein_coding","hgnc_id":"HGNC:13436","gene_name":"RPGR interacting protein 1","omim_gene":["605446"],"alias_name":null,"gene_symbol":"RPGRIP1","hgnc_symbol":"RPGRIP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:21756098-21819460","ensembl_id":"ENSG00000092200"}},"GRch38":{"90":{"location":"14:21287939-21351301","ensembl_id":"ENSG00000092200"}}},"hgnc_date_symbol_changed":"2000-12-20"},"entity_type":"gene","entity_name":"RPGRIP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Leber congenital amaurosis 6, 613826","Cone-rod dystrophy 13, 608194"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAIG-2"],"biotype":"protein_coding","hgnc_id":"HGNC:13308","gene_name":"G protein-coupled receptor class C group 5 member B","omim_gene":["605948"],"alias_name":null,"gene_symbol":"GPRC5B","hgnc_symbol":"GPRC5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:19868616-19897489","ensembl_id":"ENSG00000167191"}},"GRch38":{"90":{"location":"16:19856691-19886167","ensembl_id":"ENSG00000167191"}}},"hgnc_date_symbol_changed":"2000-01-11"},"entity_type":"gene","entity_name":"GPRC5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37143309"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447"],"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":null},{"gene_data":{"alias":["CTX","CP27"],"biotype":"protein_coding","hgnc_id":"HGNC:2605","gene_name":"cytochrome P450 family 27 subfamily A member 1","omim_gene":["606530"],"alias_name":["cerebrotendinous xanthomatosis"],"gene_symbol":"CYP27A1","hgnc_symbol":"CYP27A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219646472-219680016","ensembl_id":"ENSG00000135929"}},"GRch38":{"90":{"location":"2:218781749-218815293","ensembl_id":"ENSG00000135929"}}},"hgnc_date_symbol_changed":"1991-08-22"},"entity_type":"gene","entity_name":"CYP27A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30720493","2019602","20301583"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cerebrotendinous xanthomatosis MIM#213700"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":332,"hash_id":null,"name":"Dyslipidaemia","disease_group":"Endocrine disorders; Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause dyslipidaemia, abnormal amount of lipids (e.g. triglycerides, cholesterol and/or fat phospholipids). It contains all the genes that cause hyperlipidaemias. It was developed for use by the Royal Melbourne Hospital endocrine genetics clinic.","status":"public","version":"0.51","version_created":"2026-04-03T15:42:30.681985+11:00","relevant_disorders":["Abnormal circulating lipid concentration","HP:0003119"],"stats":{"number_of_genes":29,"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":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:535","gene_name":"annexin A11","omim_gene":["602572"],"alias_name":null,"gene_symbol":"ANXA11","hgnc_symbol":"ANXA11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:81910645-81965328","ensembl_id":"ENSG00000122359"}},"GRch38":{"90":{"location":"10:80150889-80205572","ensembl_id":"ENSG00000122359"}}},"hgnc_date_symbol_changed":"1994-05-17"},"entity_type":"gene","entity_name":"ANXA11","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["34048612"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Inclusion body myopathy and brain white matter abnormalities, MIM# 619733"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3071,"hash_id":null,"name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause limb-girdle muscular dystrophy (LGMD), distal myopathy, and LGMD-like differential diagnoses. It was developed and maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.65","version_created":"2026-01-21T10:59:30.179226+11:00","relevant_disorders":["Limb-girdle muscular dystrophy","MONDO:0016971; Proximal muscle weakness","HP:0003701; Distal myopathy MONDO:0018949"],"stats":{"number_of_genes":102,"number_of_strs":10,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4065","gene_name":"glucosidase alpha, acid","omim_gene":["606800"],"alias_name":["Pompe disease","glycogen storage disease type II"],"gene_symbol":"GAA","hgnc_symbol":"GAA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:78075355-78093678","ensembl_id":"ENSG00000171298"}},"GRch38":{"90":{"location":"17:80101556-80119879","ensembl_id":"ENSG00000171298"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GAA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25103075","27365701"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Glycogen storage disease II (MIM#232300)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3084,"hash_id":null,"name":"Rhabdomyolysis and Metabolic Myopathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nDepending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.46","version_created":"2026-03-31T19:05:14.301918+11:00","relevant_disorders":["Rhabdomyolysis","HP:0003201;Exercise intolerance","HP:0003546;Metabolic myopathy","MONDO:0020123"],"stats":{"number_of_genes":124,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["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":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Mitochondrial complex I deficiency, 252010 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["KIAA1119"],"biotype":"protein_coding","hgnc_id":"HGNC:7603","gene_name":"myosin VB","omim_gene":["606540"],"alias_name":null,"gene_symbol":"MYO5B","hgnc_symbol":"MYO5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:47349183-47721463","ensembl_id":"ENSG00000167306"}},"GRch38":{"90":{"location":"18:49822813-50195093","ensembl_id":"ENSG00000167306"}}},"hgnc_date_symbol_changed":"1996-04-04"},"entity_type":"gene","entity_name":"MYO5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microvillus inclusion disease, 251850 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-33","NifU","NIFUC"],"biotype":"protein_coding","hgnc_id":"HGNC:16287","gene_name":"NFU1 iron-sulfur cluster scaffold","omim_gene":["608100"],"alias_name":null,"gene_symbol":"NFU1","hgnc_symbol":"NFU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:69622882-69664760","ensembl_id":"ENSG00000169599"}},"GRch38":{"90":{"location":"2:69395750-69437628","ensembl_id":"ENSG00000169599"}}},"hgnc_date_symbol_changed":"2006-10-24"},"entity_type":"gene","entity_name":"NFU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RX"],"biotype":"protein_coding","hgnc_id":"HGNC:18662","gene_name":"retina and anterior neural fold homeobox","omim_gene":["601881"],"alias_name":null,"gene_symbol":"RAX","hgnc_symbol":"RAX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:56934267-56941318","ensembl_id":"ENSG00000134438"}},"GRch38":{"90":{"location":"18:59267035-59274086","ensembl_id":"ENSG00000134438"}}},"hgnc_date_symbol_changed":"2002-05-22"},"entity_type":"gene","entity_name":"RAX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Microphthalmia, isolated 3, 611038 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GCAP","GCAP1","COD3","dJ139D8.6","CORD14"],"biotype":"protein_coding","hgnc_id":"HGNC:4678","gene_name":"guanylate cyclase activator 1A","omim_gene":["600364"],"alias_name":["cone dystrophy 3"],"gene_symbol":"GUCA1A","hgnc_symbol":"GUCA1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:42123144-42147794","ensembl_id":"ENSG00000048545"}},"GRch38":{"90":{"location":"6:42155406-42180056","ensembl_id":"ENSG00000048545"}}},"hgnc_date_symbol_changed":"1992-04-08"},"entity_type":"gene","entity_name":"GUCA1A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166","9425234","15953638","11146732","28125083"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cone dystrophy-3, MIM# 602093","Cone-rod dystrophy 14, MIM# 602093"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.69","version_created":"2026-04-14T07:26:39.974051+10:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"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":["NANOS1L","NOS3","ZC2HC12C"],"biotype":"protein_coding","hgnc_id":"HGNC:22048","gene_name":"nanos C2HC-type zinc finger 3","omim_gene":["608229"],"alias_name":null,"gene_symbol":"NANOS3","hgnc_symbol":"NANOS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13972877-13991571","ensembl_id":"ENSG00000187556"}},"GRch38":{"90":{"location":"19:13862063-13880757","ensembl_id":"ENSG00000187556"}}},"hgnc_date_symbol_changed":"2003-12-01"},"entity_type":"gene","entity_name":"NANOS3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["25054146","24091668"],"evidence":["Expert Review Amber","Genetic Health QLD"],"phenotypes":["Primary ovarian insufficiency"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC35304","dJ329L24.3","FLJ20170"],"biotype":"protein_coding","hgnc_id":"HGNC:21484","gene_name":"minichromosome maintenance 9 homologous recombination repair factor","omim_gene":["610098"],"alias_name":null,"gene_symbol":"MCM9","hgnc_symbol":"MCM9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:119134605-119256327","ensembl_id":"ENSG00000111877"}},"GRch38":{"90":{"location":"6:118813442-118935162","ensembl_id":"ENSG00000111877"}}},"hgnc_date_symbol_changed":"2007-04-04"},"entity_type":"gene","entity_name":"MCM9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25480036","26771056","33538981","33095795","33095795","26806154","34556653","32841224","32613604","37378315"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Ovarian dysgenesis 4, MIM#616185","Hereditary neoplastic syndrome MONDO:0015356"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.414","version_created":"2026-04-13T17:24:24.650771+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:12786","gene_name":"Wnt family member 7A","omim_gene":["601570"],"alias_name":["proto-oncogene Wnt7a protein"],"gene_symbol":"WNT7A","hgnc_symbol":"WNT7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:13857755-13921618","ensembl_id":"ENSG00000154764"}},"GRch38":{"90":{"location":"3:13816258-13880121","ensembl_id":"ENSG00000154764"}}},"hgnc_date_symbol_changed":"1996-03-12"},"entity_type":"gene","entity_name":"WNT7A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Ulna and fibula absence of with severe limb deficiency"],"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":["FLJ13305"],"biotype":"protein_coding","hgnc_id":"HGNC:25808","gene_name":"family with sequence similarity 161 member A","omim_gene":["613596"],"alias_name":null,"gene_symbol":"FAM161A","hgnc_symbol":"FAM161A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:62051989-62081278","ensembl_id":"ENSG00000170264"}},"GRch38":{"90":{"location":"2:61824854-61854143","ensembl_id":"ENSG00000170264"}}},"hgnc_date_symbol_changed":"2008-06-05"},"entity_type":"gene","entity_name":"FAM161A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Retinal dystrophy"],"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":["CX43","ODD","ODOD","SDTY3"],"biotype":"protein_coding","hgnc_id":"HGNC:4274","gene_name":"gap junction protein alpha 1","omim_gene":["121014"],"alias_name":["oculodentodigital dysplasia (syndactyly type III)","connexin 43"],"gene_symbol":"GJA1","hgnc_symbol":"GJA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:121756838-121770873","ensembl_id":"ENSG00000152661"}},"GRch38":{"90":{"location":"6:121435692-121449727","ensembl_id":"ENSG00000152661"}}},"hgnc_date_symbol_changed":"1990-08-03"},"entity_type":"gene","entity_name":"GJA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1057461","12457340","19338053","15108203"],"evidence":["Expert Review Green","Radboud University Medical Center, Nijmegen","Illumina TruGenome Clinical Sequencing Services","Expert list"],"phenotypes":["Oculodentodigital dysplasia,164200","ODDD"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3368,"hash_id":null,"name":"Clefting disorders","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"Dysmorphic disorders","description":"This panel contains genes associated with syndromic and non-syndromic cleft lip and palate.\r\n\r\nWith thanks to Genomics England PanelApp for the original design of this panel. The panel incorporates the 'Cleft Lip' and 'Cleft Palate' panels developed by VCGS.","status":"public","version":"0.312","version_created":"2026-02-24T14:38:08.760295+11:00","relevant_disorders":["Oral cleft HP:0000202"],"stats":{"number_of_genes":314,"number_of_strs":2,"number_of_regions":5},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10681","gene_name":"succinate dehydrogenase complex iron sulfur subunit B","omim_gene":["185470"],"alias_name":["iron-sulfur subunit of complex II","succinate dehydrogenase [ubiquinone] iron-sulfur subunit"],"gene_symbol":"SDHB","hgnc_symbol":"SDHB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:17345217-17380665","ensembl_id":"ENSG00000117118"}},"GRch38":{"90":{"location":"1:17018722-17054170","ensembl_id":"ENSG00000117118"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"SDHB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NSW Health Pathology"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4135","gene_name":"galactose-1-phosphate uridylyltransferase","omim_gene":["606999"],"alias_name":null,"gene_symbol":"GALT","hgnc_symbol":"GALT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34638130-34651032","ensembl_id":"ENSG00000213930"}},"GRch38":{"90":{"location":"9:34638133-34651035","ensembl_id":"ENSG00000213930"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"GALT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","2011574"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Galactosemia MIM#230400","Disorders of galactose metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CD220"],"biotype":"protein_coding","hgnc_id":"HGNC:6091","gene_name":"insulin receptor","omim_gene":["147670"],"alias_name":null,"gene_symbol":"INSR","hgnc_symbol":"INSR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7112266-7294045","ensembl_id":"ENSG00000171105"}},"GRch38":{"90":{"location":"19:7112255-7294034","ensembl_id":"ENSG00000171105"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"INSR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8105179","7815442","33995269","33224016","33048476","2121734","9449692"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Leprechaunism, MIM# 246200","Rabson-Mendenhall syndrome, MIM# 262190"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:9455","gene_name":"PROP paired-like homeobox 1","omim_gene":["601538"],"alias_name":null,"gene_symbol":"PROP1","hgnc_symbol":"PROP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177419236-177423243","ensembl_id":"ENSG00000175325"}},"GRch38":{"90":{"location":"5:177992235-177996242","ensembl_id":"ENSG00000175325"}}},"hgnc_date_symbol_changed":"1998-02-02"},"entity_type":"gene","entity_name":"PROP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301521","31090814"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Pituitary hormone deficiency, combined, 2 MIM# 262600","Ateliotic dwarfism with hypogonadism","growth failure","short stature","failure to thrive","absent sexual development at puberty","GH, PRL, TSH, LH, and FSH deficiency","pituitary hypoplasia"],"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":["B3GTL","B3Glc-T"],"biotype":"protein_coding","hgnc_id":"HGNC:20207","gene_name":"beta 3-glucosyltransferase","omim_gene":["610308"],"alias_name":["beta-1,3-glucosyltransferase"],"gene_symbol":"B3GLCT","hgnc_symbol":"B3GLCT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:31774073-31906413","ensembl_id":"ENSG00000187676"}},"GRch38":{"90":{"location":"13:31199936-31332276","ensembl_id":"ENSG00000187676"}}},"hgnc_date_symbol_changed":"2015-06-04"},"entity_type":"gene","entity_name":"B3GLCT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)","Peters-plus syndrome 261540"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Osteodysplasty Melnick Needles 309350 XLD","Otopalatodigital syndrome, type II 304120 XLD","Frontometaphyseal dysplasia 305620","Terminal osseous dysplasia 300244","Otopalatodigital syndrome, type I -311300"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":["FP","SDHF"],"biotype":"protein_coding","hgnc_id":"HGNC:10680","gene_name":"succinate dehydrogenase complex flavoprotein subunit A","omim_gene":["600857"],"alias_name":["succinate dehydrogenase [ubiquinone] flavoprotein subunit","flavoprotein subunit of complex II"],"gene_symbol":"SDHA","hgnc_symbol":"SDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:218356-256815","ensembl_id":"ENSG00000073578"}},"GRch38":{"90":{"location":"5:218241-256700","ensembl_id":"ENSG00000073578"}}},"hgnc_date_symbol_changed":"1995-10-24"},"entity_type":"gene","entity_name":"SDHA","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["20551992","22972948","12794685"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Cardiomyopathy, dilated, 1GG (MIM#613642)","Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011)"],"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:7865","gene_name":"nodal growth differentiation factor","omim_gene":["601265"],"alias_name":null,"gene_symbol":"NODAL","hgnc_symbol":"NODAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:72192071-72207707","ensembl_id":"ENSG00000156574"}},"GRch38":{"90":{"location":"10:70432315-70447951","ensembl_id":"ENSG00000156574"}}},"hgnc_date_symbol_changed":"1998-06-05"},"entity_type":"gene","entity_name":"NODAL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["9354794","19064609","29368431","19933292","11311163","30293987"],"evidence":["Expert Review Amber","Genomics England PanelApp","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Heterotaxy, visceral, 5 (MIM#270100)"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:7448","gene_name":"myotubularin 1","omim_gene":["300415"],"alias_name":null,"gene_symbol":"MTM1","hgnc_symbol":"MTM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:149737069-149841795","ensembl_id":"ENSG00000171100"}},"GRch38":{"90":{"location":"X:150568619-150673322","ensembl_id":"ENSG00000171100"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"MTM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Myotubular myopathy, X-linked, MIM# 310400"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["hEPG5"],"biotype":"protein_coding","hgnc_id":"HGNC:29331","gene_name":"ectopic P-granules autophagy protein 5 homolog","omim_gene":["615068"],"alias_name":null,"gene_symbol":"EPG5","hgnc_symbol":"EPG5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:43427574-43547240","ensembl_id":"ENSG00000152223"}},"GRch38":{"90":{"location":"18:45847609-45967274","ensembl_id":"ENSG00000152223"}}},"hgnc_date_symbol_changed":"2011-03-02"},"entity_type":"gene","entity_name":"EPG5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23222957","26917586"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Vici syndrome, MIM# 242840"],"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":["MUPP1"],"biotype":"protein_coding","hgnc_id":"HGNC:7208","gene_name":"multiple PDZ domain crumbs cell polarity complex component","omim_gene":["603785"],"alias_name":null,"gene_symbol":"MPDZ","hgnc_symbol":"MPDZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:13105703-13279589","ensembl_id":"ENSG00000107186"}},"GRch38":{"90":{"location":"9:13105704-13279590","ensembl_id":"ENSG00000107186"}}},"hgnc_date_symbol_changed":"1998-12-16"},"entity_type":"gene","entity_name":"MPDZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28556411","23240096","30518636","29499638"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Hydrocephalus, congenital, 2, with or without brain or eye anomalies- #615219"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":["PP591","FAD1"],"biotype":"protein_coding","hgnc_id":"HGNC:24671","gene_name":"flavin adenine dinucleotide synthetase 1","omim_gene":["610595"],"alias_name":null,"gene_symbol":"FLAD1","hgnc_symbol":"FLAD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154955814-154965587","ensembl_id":"ENSG00000160688"}},"GRch38":{"90":{"location":"1:154983338-154993111","ensembl_id":"ENSG00000160688"}}},"hgnc_date_symbol_changed":"2005-07-29"},"entity_type":"gene","entity_name":"FLAD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34454814","34718578","31392824","30982706","30311138","30427553","28433476","27259049","25058219"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ30544","bA120J8.2","TTD-A","TFB5","TFIIH","TTDA"],"biotype":"protein_coding","hgnc_id":"HGNC:21157","gene_name":"general transcription factor IIH subunit 5","omim_gene":["608780"],"alias_name":["DNA repair syndrome trichothiodystrophy group A"],"gene_symbol":"GTF2H5","hgnc_symbol":"GTF2H5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:158589384-158620376","ensembl_id":"ENSG00000272047"}},"GRch38":{"90":{"location":"6:158168352-158199344","ensembl_id":"ENSG00000272047"}}},"hgnc_date_symbol_changed":"2004-07-16"},"entity_type":"gene","entity_name":"GTF2H5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30359777","24986372","37356817"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Trichothiodystrophy 3, photosensitive, MIM# 616395"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7758","gene_name":"neuraminidase 1","omim_gene":["608272"],"alias_name":null,"gene_symbol":"NEU1","hgnc_symbol":"NEU1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:31825436-31830683","ensembl_id":"ENSG00000204386"}},"GRch38":{"90":{"location":"6:31857659-31862906","ensembl_id":"ENSG00000204386"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"NEU1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11063730","8985184","9054950","39194692"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Sialidosis, type I, MIM #256550","Sialidosis, type II, MIM #256550"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6535","gene_name":"lactate dehydrogenase A","omim_gene":["150000"],"alias_name":null,"gene_symbol":"LDHA","hgnc_symbol":"LDHA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:18415935-18429972","ensembl_id":"ENSG00000134333"}},"GRch38":{"90":{"location":"11:18394388-18408425","ensembl_id":"ENSG00000134333"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LDHA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["36292720"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Glycogen storage disease XI MIM#612933"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["APP3","NPHPL1","ICP55"],"biotype":"protein_coding","hgnc_id":"HGNC:28052","gene_name":"X-prolyl aminopeptidase 3","omim_gene":["613553"],"alias_name":["Intermediate Cleaving Peptidase 55"],"gene_symbol":"XPNPEP3","hgnc_symbol":"XPNPEP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:41253081-41363838","ensembl_id":"ENSG00000196236"}},"GRch38":{"90":{"location":"22:40857077-40932815","ensembl_id":"ENSG00000196236"}}},"hgnc_date_symbol_changed":"2006-08-02"},"entity_type":"gene","entity_name":"XPNPEP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32660933","20179356"],"evidence":["Expert Review Green","Other"],"phenotypes":["Nephronophthisis-like nephropathy 1 MONDO:0013163"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3929,"hash_id":null,"name":"Aminoacidopathy","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes associated with inborn errors in the metabolism of amino acids. It has been aligned with the classifications by the ClinGen Aminoacidopathy GCEP.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.143","version_created":"2026-04-01T10:30:06.755640+11:00","relevant_disorders":["Abnormality of amino acid metabolism","HP:0004337"],"stats":{"number_of_genes":134,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B120","P270","C10rf4","BAF250","BAF250a"],"biotype":"protein_coding","hgnc_id":"HGNC:11110","gene_name":"AT-rich interaction domain 1A","omim_gene":["603024"],"alias_name":null,"gene_symbol":"ARID1A","hgnc_symbol":"ARID1A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:27022524-27108595","ensembl_id":"ENSG00000117713"}},"GRch38":{"90":{"location":"1:26693236-26782104","ensembl_id":"ENSG00000117713"}}},"hgnc_date_symbol_changed":"2004-01-30"},"entity_type":"gene","entity_name":"ARID1A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Coffin-Siris syndrome"],"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":["p50","Bp50"],"biotype":"protein_coding","hgnc_id":"HGNC:11919","gene_name":"CD40 molecule","omim_gene":["109535"],"alias_name":null,"gene_symbol":"CD40","hgnc_symbol":"CD40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:44746911-44758502","ensembl_id":"ENSG00000101017"}},"GRch38":{"90":{"location":"20:46118272-46129863","ensembl_id":"ENSG00000101017"}}},"hgnc_date_symbol_changed":"2005-01-14"},"entity_type":"gene","entity_name":"CD40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29884852"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency with hyper-IgM, type 3, MIM#\t606843"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","immunological"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["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":["27229674","22215832","18619132","22544422"],"evidence":["NHS GMS","Expert Review Green","Expert list"],"phenotypes":["Emphysema-cirrhosis, due to AAT deficiency, OMIM:613490","Emphysema due to AAT deficiency, OMIM:613490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3960,"hash_id":null,"name":"Pneumothorax","disease_group":"Respiratory disorders","disease_sub_group":"Structural lung disorders","description":"This panel contains genes that are reported causes of familial/sporadic spontaneous pneumothorax, or conditions where spontaneous pneumothorax is a differential diagnosis.\r\n\r\nThis panel is based on the Genomics England Pneumothorax - familial v2.38 gene panel.","status":"public","version":"1.1","version_created":"2025-04-24T14:31:41.408160+10:00","relevant_disorders":["Pneumothorax","HP:0002107"],"stats":{"number_of_genes":18,"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:799","gene_name":"ATPase Na+/K+ transporting subunit alpha 1","omim_gene":["182310"],"alias_name":["sodium/potassium-transporting ATPase subunit alpha-1","sodium pump subunit alpha-1","sodium-potassium ATPase catalytic subunit alpha-1"],"gene_symbol":"ATP1A1","hgnc_symbol":"ATP1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:116915290-116952883","ensembl_id":"ENSG00000163399"}},"GRch38":{"90":{"location":"1:116372668-116410261","ensembl_id":"ENSG00000163399"}}},"hgnc_date_symbol_changed":"1988-05-11"},"entity_type":"gene","entity_name":"ATP1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30388404"],"evidence":["Expert Review Green","Literature","Literature","Expert Review Green","Literature"],"phenotypes":["Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036","Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3993,"hash_id":null,"name":"Renal Tubulopathies and related disorders","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause:\r\n-renal tubular disorders\r\n-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)\r\n-aldosterone abnormalities\r\n-nephrolithiasis\r\n-metabolic renal diseases \r\n\r\nIt supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.","status":"public","version":"1.26","version_created":"2026-03-30T10:01:51.458813+11:00","relevant_disorders":["Renal tubular dysfunction","HP:0000124; Nephrolithiasis","HP:0000787; Abnormal circulating aldosterone","HP:0040085"],"stats":{"number_of_genes":134,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["4-HPPD","4HPPD","GLOD3"],"biotype":"protein_coding","hgnc_id":"HGNC:5147","gene_name":"4-hydroxyphenylpyruvate dioxygenase","omim_gene":["609695"],"alias_name":["glyoxalase domain containing 3"],"gene_symbol":"HPD","hgnc_symbol":"HPD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122277433-122301502","ensembl_id":"ENSG00000158104"}},"GRch38":{"90":{"location":"12:121839527-121863596","ensembl_id":"ENSG00000158104"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"HPD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10942115","23036342","37817461","28649543","29456978"],"evidence":["Expert Review Green","Mackenzie's Mission","Mackenzie's Mission"],"phenotypes":["Tyrosinaemia, type III, MIM#276710"],"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":["KIAA1985","CMT4C"],"biotype":"protein_coding","hgnc_id":"HGNC:29427","gene_name":"SH3 domain and tetratricopeptide repeats 2","omim_gene":["608206"],"alias_name":null,"gene_symbol":"SH3TC2","hgnc_symbol":"SH3TC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:148303202-148442726","ensembl_id":"ENSG00000169247"}},"GRch38":{"90":{"location":"5:148923639-149063163","ensembl_id":"ENSG00000169247"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"SH3TC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, type 4C MIM#601596"],"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":["KIAA1005","CORS3","JBTS7","MKS5","NPHP8","FTM","PPP1R134"],"biotype":"protein_coding","hgnc_id":"HGNC:29168","gene_name":"RPGRIP1 like","omim_gene":["610937"],"alias_name":["fantom homolog","Meckel syndrome, type 5","protein phosphatase 1, regulatory subunit 134"],"gene_symbol":"RPGRIP1L","hgnc_symbol":"RPGRIP1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:53631595-53737850","ensembl_id":"ENSG00000103494"}},"GRch38":{"90":{"location":"16:53597683-53703938","ensembl_id":"ENSG00000103494"}}},"hgnc_date_symbol_changed":"2007-05-14"},"entity_type":"gene","entity_name":"RPGRIP1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17558409","17558407","17960139","26071364","19574260","29991045"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 7, MIM# 611560","Meckel syndrome 5, MIM# 611561","COACH syndrome 3, MIM# 619113","Ciliopathy, RPGRIP1L-related, MONDO:0005308"],"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":[],"biotype":"protein_coding","hgnc_id":"HGNC:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Soft tissue sarcoma, MONDO:0018078","Sarcoma, MONDO:0005089","Costello syndrome, MONDO:0009026","Costello syndrome, MIM#218040"],"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":["U2AF1-RS2","URP","ZC3H22"],"biotype":"protein_coding","hgnc_id":"HGNC:23019","gene_name":"zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2","omim_gene":["300028"],"alias_name":null,"gene_symbol":"ZRSR2","hgnc_symbol":"ZRSR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15808595-15841383","ensembl_id":"ENSG00000169249"}},"GRch38":{"90":{"location":"X:15790472-15823260","ensembl_id":"ENSG00000169249"}}},"hgnc_date_symbol_changed":"2006-09-26"},"entity_type":"gene","entity_name":"ZRSR2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["38158857"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Orofaciodigital syndrome XXI, MIM# 301132"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4523,"hash_id":null,"name":"Adrenal insufficiency","disease_group":"Endocrine disorders","disease_sub_group":"Adrenal disorders","description":"This panel contains genes associated with adrenal insufficiency.\r\n\r\nIt includes genes from the Genomics England PanelApp 'congenital adrenal hypoplasia' panel V4.5.","status":"public","version":"0.76","version_created":"2026-03-19T16:21:18.336273+11:00","relevant_disorders":[],"stats":{"number_of_genes":58,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBHOk","FBH3"],"biotype":"protein_coding","hgnc_id":"HGNC:565","gene_name":"adaptor related protein complex 2 sigma 1 subunit","omim_gene":["602242"],"alias_name":null,"gene_symbol":"AP2S1","hgnc_symbol":"AP2S1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:47341393-47354249","ensembl_id":"ENSG00000042753"}},"GRch38":{"90":{"location":"19:46838136-46850992","ensembl_id":"ENSG00000042753"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP2S1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23222959","33729479","33168530","3204769","31723423","29479578"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Hypocalciuric hypercalcaemia, type III, MIM# 600740","MONDO:0010926"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4525,"hash_id":null,"name":"Familial hypocalciuric hypercalcaemia","disease_group":"Endocrine disorders","disease_sub_group":"Calcium disorders","description":"This panel contains genes associated with familial hypocalciuric hypercalcaemia. \r\n\r\nIt includes genes from the Genomics England PanelApp 'familial hyperparathyroidism or hypocalciuric hypercalcaemia' panel V3.6.","status":"public","version":"0.7","version_created":"2026-01-29T13:50:01.311095+11:00","relevant_disorders":[],"stats":{"number_of_genes":3,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null}]}