{"count":36078,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=189","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=187","results":[{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3677","gene_name":"fibroblast growth factor 20","omim_gene":["605558"],"alias_name":null,"gene_symbol":"FGF20","hgnc_symbol":"FGF20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:16849678-16859690","ensembl_id":"ENSG00000078579"}},"GRch38":{"90":{"location":"8:16992169-17002181","ensembl_id":"ENSG00000078579"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"FGF20","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["22698282"],"evidence":["Expert list","Expert Review Amber","Expert Review Amber","Expert list"],"phenotypes":["Renal hypodysplasia/aplasia 2, MIM#615721"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":63,"hash_id":null,"name":"Congenital anomalies of the kidney and urinary tract (CAKUT)","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).","status":"public","version":"0.207","version_created":"2026-04-15T16:43:07.852176+10:00","relevant_disorders":["Abnormality of the urinary system HP:0000079"],"stats":{"number_of_genes":124,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["HGK","NIK","FLH21957"],"biotype":"protein_coding","hgnc_id":"HGNC:6866","gene_name":"mitogen-activated protein kinase kinase kinase kinase 4","omim_gene":["604666"],"alias_name":["HPK/GCK-like kinase","hepatocyte progenitor kinase-like/germinal center kinase-like kinase"],"gene_symbol":"MAP4K4","hgnc_symbol":"MAP4K4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:102313312-102511149","ensembl_id":"ENSG00000071054"}},"GRch38":{"90":{"location":"2:101696850-101894689","ensembl_id":"ENSG00000071054"}}},"hgnc_date_symbol_changed":"1999-09-07"},"entity_type":"gene","entity_name":"MAP4K4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37126546"],"evidence":["Expert Review Green","Literature"],"phenotypes":["RASopathy, MONDO:0021060, MAP4K4-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":76,"hash_id":null,"name":"Congenital Heart Defect","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS, and contains genes associated with syndromic and non-syndromic congenital heart disease.","status":"public","version":"0.535","version_created":"2026-04-21T11:25:32.018166+10:00","relevant_disorders":["Abnormal heart morphology HP:0001627"],"stats":{"number_of_genes":254,"number_of_strs":1,"number_of_regions":10},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:132","gene_name":"actin beta","omim_gene":["102630"],"alias_name":null,"gene_symbol":"ACTB","hgnc_symbol":"ACTB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:5566782-5603415","ensembl_id":"ENSG00000075624"}},"GRch38":{"90":{"location":"7:5527151-5563784","ensembl_id":"ENSG00000075624"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ACTB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Baraitser-Winter syndrome 1, MIM# 243310"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":93,"hash_id":null,"name":"Craniosynostosis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. 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Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"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":["iPLA2","PNPLA9","PARK14","iPLA2beta","NBIA2"],"biotype":"protein_coding","hgnc_id":"HGNC:9039","gene_name":"phospholipase A2 group VI","omim_gene":["603604"],"alias_name":["neurodegeneration with brain iron accumulation 2"],"gene_symbol":"PLA2G6","hgnc_symbol":"PLA2G6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38507502-38601697","ensembl_id":"ENSG00000184381"}},"GRch38":{"90":{"location":"22:38111495-38205690","ensembl_id":"ENSG00000184381"}}},"hgnc_date_symbol_changed":"1998-09-07"},"entity_type":"gene","entity_name":"PLA2G6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25634434","26836416","22406380","20938027"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Parkinson disease 14, autosomal recessive 612953"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":126,"hash_id":null,"name":"Incidentalome","disease_group":"","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with adult-onset cardiac, cancer and neurodegenerative disorders.\r\n\r\nThese genes are excluded from the Mendeliome panel to enable the use of the Mendeliome for panel-agnostic analysis in complex paediatric cases, while minimising the chance of incidental findings related to adult-onset conditions.\r\n\r\nIf analysis of these genes is required, the relevant panel should be requested (e.g. Adult Additional Findings; Neurodegenerative Disease_Adult Onset; Breast Cancer etc).","status":"public","version":"0.433","version_created":"2026-03-25T17:03:27.624542+11:00","relevant_disorders":[],"stats":{"number_of_genes":161,"number_of_strs":2,"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":["CX50"],"biotype":"protein_coding","hgnc_id":"HGNC:4281","gene_name":"gap junction protein alpha 8","omim_gene":["600897"],"alias_name":["connexin 50"],"gene_symbol":"GJA8","hgnc_symbol":"GJA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147374946-147381393","ensembl_id":"ENSG00000121634"}},"GRch38":{"90":{"location":"1:147907956-147909257","ensembl_id":"ENSG00000121634"}}},"hgnc_date_symbol_changed":"1995-11-29"},"entity_type":"gene","entity_name":"GJA8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30498267","29464339","10480374","18006672"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cataract 1, multiple types, MIM# 116200","Microphthalmia"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["KIAA1028","bA346C16.3"],"biotype":"protein_coding","hgnc_id":"HGNC:19338","gene_name":"cyclin dependent kinase 19","omim_gene":["614720"],"alias_name":null,"gene_symbol":"CDK19","hgnc_symbol":"CDK19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:110931181-111137161","ensembl_id":"ENSG00000155111"}},"GRch38":{"90":{"location":"6:110609978-110815958","ensembl_id":"ENSG00000155111"}}},"hgnc_date_symbol_changed":"2009-12-16"},"entity_type":"gene","entity_name":"CDK19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32330417"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","epileptic encephalopathy","Epileptic encephalopathy, early infantile, 87, MIM#\t618916"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4396","gene_name":"G protein subunit beta 1","omim_gene":["139380"],"alias_name":["transducin beta chain 1","guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1"],"gene_symbol":"GNB1","hgnc_symbol":"GNB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1716729-1822495","ensembl_id":"ENSG00000078369"}},"GRch38":{"90":{"location":"1:1785285-1891117","ensembl_id":"ENSG00000078369"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27108799","30194818","27668284","31034681"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mental retardation, autosomal dominant 42, MIM# 616973"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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:12592","gene_name":"uroporphyrinogen III synthase","omim_gene":["606938"],"alias_name":["congenital erythropoietic porphyria"],"gene_symbol":"UROS","hgnc_symbol":"UROS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:127477146-127511817","ensembl_id":"ENSG00000188690"}},"GRch38":{"90":{"location":"10:125784980-125823248","ensembl_id":"ENSG00000188690"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"UROS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28334762","27512208","34187847","34828434","15065102"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Porphyria, congenital erythropoietic (MIM#263700)"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["bA424I5.1"],"biotype":"protein_coding","hgnc_id":"HGNC:21584","gene_name":"NFKB activating protein like","omim_gene":null,"alias_name":null,"gene_symbol":"NKAPL","hgnc_symbol":"NKAPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:28227098-28228736","ensembl_id":"ENSG00000189134"}},"GRch38":{"90":{"location":"6:28259320-28260958","ensembl_id":"ENSG00000189134"}}},"hgnc_date_symbol_changed":"2007-08-16"},"entity_type":"gene","entity_name":"NKAPL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["39824811"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Spermatogenic failure, MONDO:0004983, NKAPL-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["KMT8D"],"biotype":"protein_coding","hgnc_id":"HGNC:13993","gene_name":"PR/SET domain 8","omim_gene":["616639"],"alias_name":null,"gene_symbol":"PRDM8","hgnc_symbol":"PRDM8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:81105033-81125483","ensembl_id":"ENSG00000152784"}},"GRch38":{"90":{"location":"4:80183879-80204329","ensembl_id":"ENSG00000152784"}}},"hgnc_date_symbol_changed":"2000-11-28"},"entity_type":"gene","entity_name":"PRDM8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["2296154","35034233"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Epilepsy, progressive myoclonic, 10 MIM#616640"],"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":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:626","gene_name":"adenine phosphoribosyltransferase","omim_gene":["102600"],"alias_name":null,"gene_symbol":"APRT","hgnc_symbol":"APRT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88875747-88878352","ensembl_id":"ENSG00000198931"}},"GRch38":{"90":{"location":"16:88809339-88811944","ensembl_id":"ENSG00000198931"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"APRT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["PMID:3680503","2227934","7915931","1353080"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Adenine phosphoribosyltransferase deficiency MIM#614723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4788","version_created":"2026-04-25T18:32:26.912564+10:00","relevant_disorders":[],"stats":{"number_of_genes":6016,"number_of_strs":43,"number_of_regions":8},"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":["TFB2","TFIIH","P52"],"biotype":"protein_coding","hgnc_id":"HGNC:4658","gene_name":"general transcription factor IIH subunit 4","omim_gene":["601760"],"alias_name":null,"gene_symbol":"GTF2H4","hgnc_symbol":"GTF2H4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:30875961-30881883","ensembl_id":"ENSG00000213780"}},"GRch38":{"90":{"location":"6:30908184-30914106","ensembl_id":"ENSG00000213780"}}},"hgnc_date_symbol_changed":"1998-08-19"},"entity_type":"gene","entity_name":"GTF2H4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40924495","40924475"],"evidence":["Expert Review Red","Literature","Literature"],"phenotypes":["Xeroderma pigmentosum, complementation group J, MIM# 621435"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FLJ20061","IPT"],"biotype":"protein_coding","hgnc_id":"HGNC:20286","gene_name":"tRNA isopentenyltransferase 1","omim_gene":null,"alias_name":null,"gene_symbol":"TRIT1","hgnc_symbol":"TRIT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40306723-40349183","ensembl_id":"ENSG00000043514"}},"GRch38":{"90":{"location":"1:39841022-39883511","ensembl_id":"ENSG00000043514"}}},"hgnc_date_symbol_changed":"2004-01-15"},"entity_type":"gene","entity_name":"TRIT1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32088416","24901367","28185376","30977854"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 35 MIM#617873"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":138,"hash_id":null,"name":"Microcephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt contains genes associated with primary microcephaly as well as complex disorders where microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"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:2211","gene_name":"collagen type VI alpha 1 chain","omim_gene":["120220"],"alias_name":null,"gene_symbol":"COL6A1","hgnc_symbol":"COL6A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:47401651-47424964","ensembl_id":"ENSG00000142156"}},"GRch38":{"90":{"location":"21:45981737-46005050","ensembl_id":"ENSG00000142156"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL6A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301676","25535305","15955946","23738969","29277723","24443028"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bethlem myopathy MIM#158810","Ullrich congenital muscular dystrophy MIM#254090"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":141,"hash_id":null,"name":"Muscular dystrophy and myopathy_Paediatric","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH.\r\n\r\nIt contains genes typically associated with congenital muscular dystrophies and myopathies, which are characterised by weakness at birth, muscle biopsy showing dystrophic or myopathic changes, raised CK, and sometimes structural brain abnormalities. It also contains some genes that cause disorders with overlapping clinical features.\r\n\r\nPlease use the Myopathy_SuperPanel if a broader differential diagnosis is being considered.","status":"public","version":"1.122","version_created":"2026-04-02T11:45:25.115390+11:00","relevant_disorders":["Muscular dystrophy","HP:0003560; Elevated circulating creatine kinase concentration","HP:0003236; Myopathy","HP:0003198"],"stats":{"number_of_genes":146,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2207","gene_name":"collagen type IV alpha 5 chain","omim_gene":["303630"],"alias_name":null,"gene_symbol":"COL4A5","hgnc_symbol":"COL4A5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:107683074-107940775","ensembl_id":"ENSG00000188153"}},"GRch38":{"90":{"location":"X:108439844-108697545","ensembl_id":"ENSG00000188153"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alport syndrome 1, X-linked, MIM# 301050"],"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":144,"hash_id":null,"name":"Proteinuria","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"To be used in individuals with suspected nephrotic syndrome and related conditions, part of the Renal Glomerular Disease Superpanel.\r\n\r\n09/01/2020: This panel has been compared with the Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC10744"],"biotype":"protein_coding","hgnc_id":"HGNC:28128","gene_name":"transmembrane protein 107","omim_gene":["616183"],"alias_name":null,"gene_symbol":"TMEM107","hgnc_symbol":"TMEM107","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8076555-8079717","ensembl_id":"ENSG00000179029"}},"GRch38":{"90":{"location":"17:8173237-8176399","ensembl_id":"ENSG00000179029"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM107","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["22698544","26123494","26518474"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Meckel syndrome 13 MIM#617562","Orofaciodigital syndrome XVI MIM#617563"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"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":["DKFZp686F0372","MGC34713"],"biotype":"protein_coding","hgnc_id":"HGNC:28532","gene_name":"KIAA0825","omim_gene":["617266"],"alias_name":null,"gene_symbol":"KIAA0825","hgnc_symbol":"KIAA0825","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:93488671-93954309","ensembl_id":"ENSG00000185261"}},"GRch38":{"90":{"location":"5:94152966-94618597","ensembl_id":"ENSG00000185261"}}},"hgnc_date_symbol_changed":"2011-02-23"},"entity_type":"gene","entity_name":"KIAA0825","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32147526","30982135"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Polydactyly, postaxial, type A10, MIM#\t618498"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":159,"hash_id":null,"name":"Polydactyly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS. It contains genes that cause syndromic and non-syndromic polydactyly.","status":"public","version":"0.303","version_created":"2026-04-23T20:20:44.540776+10:00","relevant_disorders":["Polydactyly","HP:0010442"],"stats":{"number_of_genes":141,"number_of_strs":2,"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":["FPP","PFM","KIAA1788"],"biotype":"protein_coding","hgnc_id":"HGNC:450","gene_name":"ALX homeobox 4","omim_gene":["605420"],"alias_name":null,"gene_symbol":"ALX4","hgnc_symbol":"ALX4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:44281994-44331716","ensembl_id":"ENSG00000052850"}},"GRch38":{"90":{"location":"11:44260444-44310166","ensembl_id":"ENSG00000052850"}}},"hgnc_date_symbol_changed":"2000-06-15"},"entity_type":"gene","entity_name":"ALX4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["24668755","22140057","19692347"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Frontonasal dysplasia 2, MIM# 613451","FND2 with alopecia"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":160,"hash_id":null,"name":"Pierre Robin Sequence","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.64","version_created":"2026-04-12T14:13:00.975329+10:00","relevant_disorders":["Pierre Robin sequence","HP:0000201"],"stats":{"number_of_genes":55,"number_of_strs":1,"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":["SP-A2","COLEC5"],"biotype":"protein_coding","hgnc_id":"HGNC:10799","gene_name":"surfactant protein A2","omim_gene":["178642"],"alias_name":["surfactant, pulmonary-associated protein A2A"],"gene_symbol":"SFTPA2","hgnc_symbol":"SFTPA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:81315608-81320153","ensembl_id":"ENSG00000185303"}},"GRch38":{"90":{"location":"10:79555852-79560402","ensembl_id":"ENSG00000185303"}}},"hgnc_date_symbol_changed":"1997-04-16"},"entity_type":"gene","entity_name":"SFTPA2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19100526","32602668"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Pulmonary fibrosis, idiopathic, MIM# 178500"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["Kv10.1","eag","h-eag","eag1"],"biotype":"protein_coding","hgnc_id":"HGNC:6250","gene_name":"potassium voltage-gated channel subfamily H member 1","omim_gene":["603305"],"alias_name":null,"gene_symbol":"KCNH1","hgnc_symbol":"KCNH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:210856555-211307457","ensembl_id":"ENSG00000143473"}},"GRch38":{"90":{"location":"1:210676823-211134180","ensembl_id":"ENSG00000143473"}}},"hgnc_date_symbol_changed":"1993-03-22"},"entity_type":"gene","entity_name":"KCNH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 33594261"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["ISSX","CT121","EIEE1"],"biotype":"protein_coding","hgnc_id":"HGNC:18060","gene_name":"aristaless related homeobox","omim_gene":["300382"],"alias_name":["cancer/testis antigen 121"],"gene_symbol":"ARX","hgnc_symbol":"ARX","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:25021811-25034065","ensembl_id":"ENSG00000004848"}},"GRch38":{"90":{"location":"X:25003694-25016420","ensembl_id":"ENSG00000004848"}}},"hgnc_date_symbol_changed":"2002-02-11"},"entity_type":"gene","entity_name":"ARX","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["14722918","19738637","32519823","28150386","21496008"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Epileptic encephalopathy, early infantile, 1 MIM#308350","Hydranencephaly with abnormal genitalia MIM#300215","Lissencephaly, X-linked 2 MIM#300215","Mental retardation, X-linked 29 and others MIM#300419","Partington syndrome MIM#309510","Proud syndrome MIM#300004"],"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":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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":[],"biotype":"protein_coding","hgnc_id":"HGNC:10889","gene_name":"SIX homeobox 3","omim_gene":["603714"],"alias_name":null,"gene_symbol":"SIX3","hgnc_symbol":"SIX3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:45168902-45173216","ensembl_id":"ENSG00000138083"}},"GRch38":{"90":{"location":"2:44941898-44946077","ensembl_id":"ENSG00000138083"}}},"hgnc_date_symbol_changed":"1998-04-21"},"entity_type":"gene","entity_name":"SIX3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Holoprosencephaly 2, MIM#157170"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["KCa2.2","hSK2"],"biotype":"protein_coding","hgnc_id":"HGNC:6291","gene_name":"potassium calcium-activated channel subfamily N member 2","omim_gene":["605879"],"alias_name":["small conductance calcium-activated potassium channel 2"],"gene_symbol":"KCNN2","hgnc_symbol":"KCNN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:113696642-113832337","ensembl_id":"ENSG00000080709"}},"GRch38":{"90":{"location":"5:114360945-114496500","ensembl_id":"ENSG00000080709"}}},"hgnc_date_symbol_changed":"1998-04-07"},"entity_type":"gene","entity_name":"KCNN2","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["33242881"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["ARH3","FLJ20446"],"biotype":"protein_coding","hgnc_id":"HGNC:21304","gene_name":"ADP-ribosylhydrolase like 2","omim_gene":["610624"],"alias_name":["ADP-ribosylarginine hydrolase like 2"],"gene_symbol":"ADPRHL2","hgnc_symbol":"ADPRHL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:36554476-36559533","ensembl_id":"ENSG00000116863"}},"GRch38":{"90":{"location":"1:36088875-36093932","ensembl_id":"ENSG00000116863"}}},"hgnc_date_symbol_changed":"2003-06-19"},"entity_type":"gene","entity_name":"ADPRHL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30100084","30401461"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (MIM#618170)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.410","version_created":"2026-04-24T13:36:55.078812+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":["GRP75","PBP74","mot-2","mthsp75"],"biotype":"protein_coding","hgnc_id":"HGNC:5244","gene_name":"heat shock protein family A (Hsp70) member 9","omim_gene":["600548"],"alias_name":["mortalin2","mortalin"],"gene_symbol":"HSPA9","hgnc_symbol":"HSPA9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:137890571-137911133","ensembl_id":"ENSG00000113013"}},"GRch38":{"90":{"location":"5:138554882-138575444","ensembl_id":"ENSG00000113013"}}},"hgnc_date_symbol_changed":"2006-10-31"},"entity_type":"gene","entity_name":"HSPA9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29884839","21123823","26598328","26491070","39196378","36094340","38284453","38281662","35779070"],"evidence":["Expert Review Green"],"phenotypes":["Anaemia, sideroblastic, 4, MIM# 182170","Even-plus syndrome, MIM# 616854"],"mode_of_inheritance":"BOTH monoallelic and 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":["DAP13","B17.2"],"biotype":"protein_coding","hgnc_id":"HGNC:23987","gene_name":"NADH:ubiquinone oxidoreductase subunit A12","omim_gene":["614530"],"alias_name":["complex I B17.2 subunit"],"gene_symbol":"NDUFA12","hgnc_symbol":"NDUFA12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:95290831-95397546","ensembl_id":"ENSG00000184752"}},"GRch38":{"90":{"location":"12:94897055-95003770","ensembl_id":"ENSG00000184752"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"NDUFA12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21617257","33715266"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 23 618244"],"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":["EF-Tsmt","EF-TS"],"biotype":"protein_coding","hgnc_id":"HGNC:12367","gene_name":"Ts translation elongation factor, mitochondrial","omim_gene":["604723"],"alias_name":null,"gene_symbol":"TSFM","hgnc_symbol":"TSFM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:58176372-58201854","ensembl_id":"ENSG00000123297"}},"GRch38":{"90":{"location":"12:57782589-57808071","ensembl_id":"ENSG00000123297"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"TSFM","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":["SBBI88","Mg11","HDDC1","MOP-5","AGS5"],"biotype":"protein_coding","hgnc_id":"HGNC:15925","gene_name":"SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1","omim_gene":["606754"],"alias_name":["HD domain containing 1","monocyte protein 5","Aicardi-Goutieres syndrome 5"],"gene_symbol":"SAMHD1","hgnc_symbol":"SAMHD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:35518632-35580246","ensembl_id":"ENSG00000101347"}},"GRch38":{"90":{"location":"20:36890229-36951843","ensembl_id":"ENSG00000101347"}}},"hgnc_date_symbol_changed":"2001-07-31"},"entity_type":"gene","entity_name":"SAMHD1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:1385","gene_name":"calcium binding protein 2","omim_gene":["607314"],"alias_name":null,"gene_symbol":"CABP2","hgnc_symbol":"CABP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:67286383-67290899","ensembl_id":"ENSG00000167791"}},"GRch38":{"90":{"location":"11:67518912-67524517","ensembl_id":"ENSG00000167791"}}},"hgnc_date_symbol_changed":"2000-07-28"},"entity_type":"gene","entity_name":"CABP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22981119","31661684","28183797"],"evidence":["Expert 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With special thanks to Rachel Burt and Lilian Downie. The panel incorporates the ClinGen Hearing Loss gene-validity assessments with thanks to Lilian Downie, and the Royal Melbourne Hospital Hearing Loss panel with thanks to Bryony Thompson. \r\n\r\nIt has been compared with the Genomics England PanelApp 'Monogenic hearing loss' V5.47, with all discrepancies reviewed and resolved (November 2025).","status":"public","version":"1.361","version_created":"2026-04-11T11:20:22.713350+10:00","relevant_disorders":["Hearing impairment","HP:0000365"],"stats":{"number_of_genes":348,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Melbourne Genomics","slug":"melbourne-genomics","description":"Panel used by a Melbourne Genomics project."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34012068"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Breast cancer, susceptibility to} 114480","Fanconi anaemia, complementation group N, MIM# 610832"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":221,"hash_id":null,"name":"Additional findings_Adult","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed for the Melbourne Genomics Additional findings flagship.\r\n\r\nThe framework used considered clinical actionability and public screening principles, for full publication see Martyn M et al 2019, PMID: 30776170. 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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":"1.756","version_created":"2026-04-24T13:54:47.562690+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":[]},{"gene_data":{"alias":["CDV-1R","MGC4027"],"biotype":"protein_coding","hgnc_id":"HGNC:14313","gene_name":"intraflagellar transport 81","omim_gene":["605489"],"alias_name":null,"gene_symbol":"IFT81","hgnc_symbol":"IFT81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:110562140-110656602","ensembl_id":"ENSG00000122970"}},"GRch38":{"90":{"location":"12:110124335-110218797","ensembl_id":"ENSG00000122970"}}},"hgnc_date_symbol_changed":"2005-11-02"},"entity_type":"gene","entity_name":"IFT81","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27666822","30080953","28460050","26275418"],"evidence":["Expert Review Green","Other","NHS GMS"],"phenotypes":["Short-rib thoracic dysplasia 19 with or without polydactyly -617895","Short-Rib Polydactyly Syndrome"],"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":"0.433","version_created":"2026-04-23T20:38:03.561440+10:00","relevant_disorders":["Skeletal dysplasia","HP:0002652"],"stats":{"number_of_genes":633,"number_of_strs":4,"number_of_regions":7},"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":["AC5"],"biotype":"protein_coding","hgnc_id":"HGNC:236","gene_name":"adenylate cyclase 5","omim_gene":["600293"],"alias_name":null,"gene_symbol":"ADCY5","hgnc_symbol":"ADCY5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:123001143-123168605","ensembl_id":"ENSG00000173175"}},"GRch38":{"90":{"location":"3:123282296-123449758","ensembl_id":"ENSG00000173175"}}},"hgnc_date_symbol_changed":"1994-07-22"},"entity_type":"gene","entity_name":"ADCY5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22782511","24700542","33051786","32647899","33704598","34631954","28971144","30975617"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["Dyskinesia, familial, with facial myokymia, MIM# 606703","MONDO:0011707","Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647","Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":259,"hash_id":null,"name":"Paroxysmal Dyskinesia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"With special thanks to Drs Katherine Howell and Eunice Chan, paediatric neurologists at RCH for compiling this panel. This panel contains genes associated with recurrent sudden attacks of dyskinesia without impairment of consciousness. It also contains genes associated with hyperekplexia and myokymia.\r\n\r\nPlease consider overlap with other paroxysmal CNS disorders covered by the Episodic Ataxia and Alternating Hemiplegia_Hemiplegic Migraine panels. If features of a more complex movement disorder are present, consider the Dystonia_Superpanel and the Ataxia_Superpanel.","status":"public","version":"0.145","version_created":"2026-01-09T20:58:50.808183+11:00","relevant_disorders":["Paroxysmal dyskinesia","HP:0007166"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["trnC"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7477","gene_name":"mitochondrially encoded tRNA cysteine","omim_gene":["590020"],"alias_name":null,"gene_symbol":"MT-TC","hgnc_symbol":"MT-TC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:5761-5826","ensembl_id":"ENSG00000210140"}},"GRch38":{"90":{"location":"MT:5761-5826","ensembl_id":"ENSG00000210140"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TC","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["8829635","9185178","17241783","11453453","16955414","32169613","36039763","17724295","35252560","34433719","30030363"],"evidence":["Expert Review Amber","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TC-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC7199","NgBR","TANGO14"],"biotype":"protein_coding","hgnc_id":"HGNC:21042","gene_name":"NUS1 dehydrodolichyl diphosphate synthase subunit","omim_gene":["610463"],"alias_name":["Nogo-B receptor","transport and golgi organization 14 homolog (Drosophila)"],"gene_symbol":"NUS1","hgnc_symbol":"NUS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:117996665-118031803","ensembl_id":"ENSG00000153989"}},"GRch38":{"90":{"location":"6:117675502-117710640","ensembl_id":"ENSG00000153989"}}},"hgnc_date_symbol_changed":"2006-11-24"},"entity_type":"gene","entity_name":"NUS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31656175","29100083"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, myoclonus, ataxia and scoliosis","Mental retardation, autosomal dominant 55, with seizures, 617831"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":271,"hash_id":null,"name":"Ataxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.","status":"public","version":"1.203","version_created":"2026-04-07T13:48:57.123718+10:00","relevant_disorders":["Ataxia","HP:0001251"],"stats":{"number_of_genes":328,"number_of_strs":21,"number_of_regions":3},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Kv7.2","ENB1","BFNC","KCNA11","HNSPC"],"biotype":"protein_coding","hgnc_id":"HGNC:6296","gene_name":"potassium voltage-gated channel subfamily Q member 2","omim_gene":["602235"],"alias_name":null,"gene_symbol":"KCNQ2","hgnc_symbol":"KCNQ2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62037542-62103993","ensembl_id":"ENSG00000075043"}},"GRch38":{"90":{"location":"20:63400210-63472677","ensembl_id":"ENSG00000075043"}}},"hgnc_date_symbol_changed":"1998-01-12"},"entity_type":"gene","entity_name":"KCNQ2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["12742592","32585800"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Epileptic encephalopathy, early infantile, 7 MIM#613720"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":290,"hash_id":null,"name":"Dystonia and Chorea","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause various types of dystonia and chorea. Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["MGC24039"],"biotype":"protein_coding","hgnc_id":"HGNC:28338","gene_name":"DENN domain containing 5B","omim_gene":["617279"],"alias_name":null,"gene_symbol":"DENND5B","hgnc_symbol":"DENND5B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:31535157-31744031","ensembl_id":"ENSG00000170456"}},"GRch38":{"90":{"location":"12:31382223-31591097","ensembl_id":"ENSG00000170456"}}},"hgnc_date_symbol_changed":"2008-08-14"},"entity_type":"gene","entity_name":"DENND5B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 38387458"],"evidence":["Expert Review Green","Other"],"phenotypes":["Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["CLN1","INCL"],"biotype":"protein_coding","hgnc_id":"HGNC:9325","gene_name":"palmitoyl-protein thioesterase 1","omim_gene":["600722"],"alias_name":["ceroid-lipofuscinosis, neuronal 1, infantile"],"gene_symbol":"PPT1","hgnc_symbol":"PPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:40538379-40563375","ensembl_id":"ENSG00000131238"}},"GRch38":{"90":{"location":"1:40071461-40097727","ensembl_id":"ENSG00000131238"}}},"hgnc_date_symbol_changed":"2000-06-09"},"entity_type":"gene","entity_name":"PPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Royal Melbourne Hospital","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 1 256730"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":331,"hash_id":null,"name":"Progressive Myoclonic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause progressive myoclonic epilepsies (PME) and neuronal ceroid lipofuscinoses (NCLs). It is maintained by Royal Melbourne Hospital.","status":"public","version":"0.28","version_created":"2025-11-21T09:34:57.163082+11:00","relevant_disorders":["Myoclonic seizure","HP:0032794"],"stats":{"number_of_genes":33,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DOM","WS4","WS2E"],"biotype":"protein_coding","hgnc_id":"HGNC:11190","gene_name":"SRY-box 10","omim_gene":["602229"],"alias_name":["dominant megacolon, mouse, human homolog of"],"gene_symbol":"SOX10","hgnc_symbol":"SOX10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:38366693-38383429","ensembl_id":"ENSG00000100146"}},"GRch38":{"90":{"location":"22:37970686-37987422","ensembl_id":"ENSG00000100146"}}},"hgnc_date_symbol_changed":"1998-01-22"},"entity_type":"gene","entity_name":"SOX10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15004559"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["PCWH Syndrome (MIM#609136","MONDO:0012198)","Waardenburg syndrome, type 4C, 613266","Hypopigmentation of the hair and skin, sensory hearing loss, demyelinating neuropathy, dysmyelinating leukodystrophy, developmental delay, spasticity, ataxia, Hirschsprung disease","Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584","HMSN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["p53R2"],"biotype":"protein_coding","hgnc_id":"HGNC:17296","gene_name":"ribonucleotide reductase regulatory TP53 inducible subunit M2B","omim_gene":["604712"],"alias_name":null,"gene_symbol":"RRM2B","hgnc_symbol":"RRM2B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:103216730-103251346","ensembl_id":"ENSG00000048392"}},"GRch38":{"90":{"location":"8:102204502-102239118","ensembl_id":"ENSG00000048392"}}},"hgnc_date_symbol_changed":"2002-01-14"},"entity_type":"gene","entity_name":"RRM2B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19667227","23107649"],"evidence":["Expert Review Green","Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 MIM#613077"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular 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It is a consensus panel used by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp \"Gastrointestinal neuromuscular disorders\" panel V1.15, 31/07/2021, with all discordances resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.26","version_created":"2026-03-26T19:32:59.997765+11:00","relevant_disorders":["Gastrointestinal dysmotility","HP:0002579"],"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":[]},{"gene_data":{"alias":["RMRPR","RRP2","NME1"],"biotype":null,"hgnc_id":"HGNC:10031","gene_name":"RNA component of mitochondrial RNA processing endoribonuclease","omim_gene":["157660"],"alias_name":null,"gene_symbol":"RMRP","hgnc_symbol":"RMRP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:35657748-35658015","ensembl_id":"ENSG00000269900"}},"GRch38":{"90":{"location":"9:35657751-35658018","ensembl_id":"ENSG00000269900"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"RMRP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16244706","21396580","22420014","11940090","16252239"],"evidence":["Expert Review Green","Expert list","Royal Melbourne Hospital","Victorian Clinical Genetics Services"],"phenotypes":["Cartilage hair hypoplasia (CHH) MIM#250250","Anauxetic dysplasia 1, MIM# 607095","Metaphyseal dysplasia without hypotrichosis, MIM# 250460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["non-coding gene"],"panel":{"id":3089,"hash_id":null,"name":"Ectodermal Dysplasia","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes that cause heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body.\r\n\r\nThis is a consensus panel used by RMH and VCGS.\r\n\r\nPlease refer to the Hair Disorders panel for disorders primarily affecting hair.","status":"public","version":"0.110","version_created":"2026-03-31T16:43:36.155380+11:00","relevant_disorders":["Ectodermal dysplasia","HP:0000968"],"stats":{"number_of_genes":61,"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":["hRrp4p","Rrp4p","RRP4","p7"],"biotype":"protein_coding","hgnc_id":"HGNC:17097","gene_name":"exosome component 2","omim_gene":["602238"],"alias_name":["homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"],"gene_symbol":"EXOSC2","hgnc_symbol":"EXOSC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:133569108-133580248","ensembl_id":"ENSG00000130713"}},"GRch38":{"90":{"location":"9:130693721-130704894","ensembl_id":"ENSG00000130713"}}},"hgnc_date_symbol_changed":"2004-03-26"},"entity_type":"gene","entity_name":"EXOSC2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["26843489","31628467","36344539","36069504"],"evidence":["Expert Review Amber","Expert list","RetNet","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3099,"hash_id":null,"name":"Syndromic Retinopathy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause retinopathy with at least one other consistent extra-ocular feature, forming a syndrome. The panel does NOT include the Bardet-Biedl syndrome, Stickler syndrome, and Usher syndrome genes, which have their own panels and are part of the Retinal Disorders Superpanel.\r\n\r\nConsider using the panel Retinal Disorders Superpanel when ophthalmological findings are not specific for a sub-group of disorders, particularly in individuals early in the diagnostic trajectory or if a dual diagnosis is a possibility.","status":"public","version":"0.257","version_created":"2026-04-21T11:24:13.037194+10:00","relevant_disorders":["Retinopathy","HP:0000488"],"stats":{"number_of_genes":139,"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":["UGT1A"],"biotype":"protein_coding","hgnc_id":"HGNC:12530","gene_name":"UDP glucuronosyltransferase family 1 member A1","omim_gene":["191740"],"alias_name":null,"gene_symbol":"UGT1A1","hgnc_symbol":"UGT1A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:234526291-234681956","ensembl_id":"ENSG00000241635"}},"GRch38":{"90":{"location":"2:233760248-233773299","ensembl_id":"ENSG00000241635"}}},"hgnc_date_symbol_changed":"1989-02-13"},"entity_type":"gene","entity_name":"UGT1A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Crigler-Najjar syndrome, type I, 218800 (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":["NOV","QM","DXS648E","DXS648","FLJ23544","L10"],"biotype":"protein_coding","hgnc_id":"HGNC:10298","gene_name":"ribosomal protein L10","omim_gene":["312173"],"alias_name":null,"gene_symbol":"RPL10","hgnc_symbol":"RPL10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153618315-153637504","ensembl_id":"ENSG00000147403"}},"GRch38":{"90":{"location":"X:154389955-154409168","ensembl_id":"ENSG00000147403"}}},"hgnc_date_symbol_changed":"1998-07-23"},"entity_type":"gene","entity_name":"RPL10","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Mackenzie's Mission"],"phenotypes":["Mental retardation, X-linked, syndromic, 35 (MIM#300998)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":["VLCAD","LCACD","ACAD6"],"biotype":"protein_coding","hgnc_id":"HGNC:92","gene_name":"acyl-CoA dehydrogenase very long chain","omim_gene":["609575"],"alias_name":null,"gene_symbol":"ACADVL","hgnc_symbol":"ACADVL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7120444-7128592","ensembl_id":"ENSG00000072778"}},"GRch38":{"90":{"location":"17:7217125-7225273","ensembl_id":"ENSG00000072778"}}},"hgnc_date_symbol_changed":"1996-05-30"},"entity_type":"gene","entity_name":"ACADVL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["VLCAD deficiency, 201475 (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":["HTX","ZNF203"],"biotype":"protein_coding","hgnc_id":"HGNC:12874","gene_name":"Zic family member 3","omim_gene":["300265"],"alias_name":null,"gene_symbol":"ZIC3","hgnc_symbol":"ZIC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:136648301-136659850","ensembl_id":"ENSG00000156925"}},"GRch38":{"90":{"location":"X:137566142-137577691","ensembl_id":"ENSG00000156925"}}},"hgnc_date_symbol_changed":"1993-11-16"},"entity_type":"gene","entity_name":"ZIC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5401","gene_name":"SP110 nuclear body protein","omim_gene":["604457"],"alias_name":null,"gene_symbol":"SP110","hgnc_symbol":"SP110","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:231032009-231090444","ensembl_id":"ENSG00000135899"}},"GRch38":{"90":{"location":"2:230167293-230225729","ensembl_id":"ENSG00000135899"}}},"hgnc_date_symbol_changed":"2001-12-20"},"entity_type":"gene","entity_name":"SP110","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hepatic venoocclusive disease with immunodeficiency, 235550 (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":["CDG1N"],"biotype":"protein_coding","hgnc_id":"HGNC:30220","gene_name":"RFT1 homolog","omim_gene":["611908"],"alias_name":["congenital disorder of glycosylation 1N"],"gene_symbol":"RFT1","hgnc_symbol":"RFT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:53122499-53164478","ensembl_id":"ENSG00000163933"}},"GRch38":{"90":{"location":"3:53088483-53130462","ensembl_id":"ENSG00000163933"}}},"hgnc_date_symbol_changed":"2005-01-19"},"entity_type":"gene","entity_name":"RFT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type In, 612015 (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":["KIAA1970","MSE1"],"biotype":"protein_coding","hgnc_id":"HGNC:29419","gene_name":"glutamyl-tRNA synthetase 2, mitochondrial","omim_gene":["612799"],"alias_name":["glutamate tRNA ligase 2, mitochondrial"],"gene_symbol":"EARS2","hgnc_symbol":"EARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23533335-23569052","ensembl_id":"ENSG00000103356"}},"GRch38":{"90":{"location":"16:23522014-23557731","ensembl_id":"ENSG00000103356"}}},"hgnc_date_symbol_changed":"2006-04-04"},"entity_type":"gene","entity_name":"EARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Combined oxidative phosphorylation deficiency 12, 614924 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:8653","gene_name":"propionyl-CoA carboxylase alpha subunit","omim_gene":["232000"],"alias_name":null,"gene_symbol":"PCCA","hgnc_symbol":"PCCA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:100741269-101182686","ensembl_id":"ENSG00000175198"}},"GRch38":{"90":{"location":"13:100089015-100530437","ensembl_id":"ENSG00000175198"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"PCCA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["21986446","18986243","20142522"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Propionicacidemia\t606054"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3141,"hash_id":null,"name":"Stroke","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause conditions with stroke or stroke-like episodes. It was developed and is maintained by RMH and is a consensus panel used by VCGS.\r\n\r\nConsider applying the Bleeding and Platelet disorders, Aortopathy_Connective Tissue Disorders and Cerebral Vascular Malformations panels based on the clinical features.","status":"public","version":"1.48","version_created":"2026-03-31T17:20:59.161732+11:00","relevant_disorders":["Stroke","HP:0001297"],"stats":{"number_of_genes":75,"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":["VAMP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:12642","gene_name":"vesicle associated membrane protein 1","omim_gene":["185880"],"alias_name":null,"gene_symbol":"VAMP1","hgnc_symbol":"VAMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6571403-6580153","ensembl_id":"ENSG00000139190"}},"GRch38":{"90":{"location":"12:6462237-6470987","ensembl_id":"ENSG00000139190"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"VAMP1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Spastic ataxia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["dGK"],"biotype":"protein_coding","hgnc_id":"HGNC:2858","gene_name":"deoxyguanosine kinase","omim_gene":["601465"],"alias_name":null,"gene_symbol":"DGUOK","hgnc_symbol":"DGUOK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74153953-74186088","ensembl_id":"ENSG00000114956"}},"GRch38":{"90":{"location":"2:73926826-73958961","ensembl_id":"ENSG00000114956"}}},"hgnc_date_symbol_changed":"1996-07-17"},"entity_type":"gene","entity_name":"DGUOK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Mitochondrial DNA depletion syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ10335","FAAP43","Pog"],"biotype":"protein_coding","hgnc_id":"HGNC:20748","gene_name":"Fanconi anemia complementation group L","omim_gene":["608111"],"alias_name":null,"gene_symbol":"FANCL","hgnc_symbol":"FANCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:58386378-58468507","ensembl_id":"ENSG00000115392"}},"GRch38":{"90":{"location":"2:58159243-58241372","ensembl_id":"ENSG00000115392"}}},"hgnc_date_symbol_changed":"2003-10-15"},"entity_type":"gene","entity_name":"FANCL","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Fanconi anaemia"],"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":["NTG","KIAA0567","FLJ12460","NPG","MGM1"],"biotype":"protein_coding","hgnc_id":"HGNC:8140","gene_name":"OPA1, mitochondrial dynamin like GTPase","omim_gene":["605290"],"alias_name":["mitochondrial dynamin-like GTPase","dynamin-like guanosine triphosphatase","Dynamin-like 120 kDa protein, mitochondrial"],"gene_symbol":"OPA1","hgnc_symbol":"OPA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:193310933-193415612","ensembl_id":"ENSG00000198836"}},"GRch38":{"90":{"location":"3:193593144-193697823","ensembl_id":"ENSG00000198836"}}},"hgnc_date_symbol_changed":"1987-09-11"},"entity_type":"gene","entity_name":"OPA1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Optic atrophy plus syndrome, MIM#\t125250"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3379,"hash_id":null,"name":"Congenital ophthalmoplegia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes associated with congenital ophthalmoplegia including those associated with congenital fibrosis of the extra-ocular muscles (CFEOM), Duane anomaly, Moebius syndrome, and gaze palsies.\r\n\r\nIn addition, it includes genes associated with conditions where ophthalmoplegia can occur in infancy/early childhood as a common/prominent feature of a more complex syndromic, metabolic or neuromuscular condition.","status":"public","version":"1.14","version_created":"2025-12-14T20:52:23.588623+11:00","relevant_disorders":["Abnormality of eye movement","HP:0000496"],"stats":{"number_of_genes":55,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["p51","SHFM4","EEC3","p63","p73L","OFC8","KET","p73H","NBP","p53CP"],"biotype":"protein_coding","hgnc_id":"HGNC:15979","gene_name":"tumor protein p63","omim_gene":["603273"],"alias_name":null,"gene_symbol":"TP63","hgnc_symbol":"TP63","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:189349205-189615068","ensembl_id":"ENSG00000073282"}},"GRch38":{"90":{"location":"3:189631416-189897279","ensembl_id":"ENSG00000073282"}}},"hgnc_date_symbol_changed":"2002-04-18"},"entity_type":"gene","entity_name":"TP63","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["AGM1","DKFZP434B187","PAGM"],"biotype":"protein_coding","hgnc_id":"HGNC:8907","gene_name":"phosphoglucomutase 3","omim_gene":["172100"],"alias_name":["acetylglucosamine phosphomutase"],"gene_symbol":"PGM3","hgnc_symbol":"PGM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:83870869-83903655","ensembl_id":"ENSG00000013375"}},"GRch38":{"90":{"location":"6:83161150-83193936","ensembl_id":"ENSG00000013375"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 23 615816"],"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":["FLJ20731","FKBP22"],"biotype":"protein_coding","hgnc_id":"HGNC:18625","gene_name":"FK506 binding protein 14","omim_gene":["614505"],"alias_name":null,"gene_symbol":"FKBP14","hgnc_symbol":"FKBP14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:30050203-30066300","ensembl_id":"ENSG00000106080"}},"GRch38":{"90":{"location":"7:30010587-30026684","ensembl_id":"ENSG00000106080"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"FKBP14","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22265013","24773188","27149304","31132235","30561154","28617417"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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:3579","gene_name":"fumarylacetoacetate hydrolase","omim_gene":["613871"],"alias_name":["fumarylacetoacetase"],"gene_symbol":"FAH","hgnc_symbol":"FAH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:80444832-80479288","ensembl_id":"ENSG00000103876"}},"GRch38":{"90":{"location":"15:80152490-80186946","ensembl_id":"ENSG00000103876"}}},"hgnc_date_symbol_changed":"1989-06-07"},"entity_type":"gene","entity_name":"FAH","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["15759101"],"evidence":["Expert Review Red","Genomics England PanelApp"],"phenotypes":["Tyrosinemia, type I, MIM#276700"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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:2202","gene_name":"collagen type IV alpha 1 chain","omim_gene":["120130"],"alias_name":null,"gene_symbol":"COL4A1","hgnc_symbol":"COL4A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:110801318-110959496","ensembl_id":"ENSG00000187498"}},"GRch38":{"90":{"location":"13:110148963-110307149","ensembl_id":"ENSG00000187498"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"COL4A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30266093","32732225","30712878","24628545","31719132","23065703"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Brain small vessel disease with or without ocular anomalies, MIM#175780","Porenecphaly"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["CMTX5","DFNX1"],"biotype":"protein_coding","hgnc_id":"HGNC:9462","gene_name":"phosphoribosyl pyrophosphate synthetase 1","omim_gene":["311850"],"alias_name":["PRS I","ribose-phosphate diphosphokinase 1"],"gene_symbol":"PRPS1","hgnc_symbol":"PRPS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:106871737-106894256","ensembl_id":"ENSG00000147224"}},"GRch38":{"90":{"location":"X:107628424-107651026","ensembl_id":"ENSG00000147224"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PRPS1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["32781272","24961627"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Arts syndrome MIM#301835"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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:4083","gene_name":"gamma-aminobutyric acid type A receptor beta3 subunit","omim_gene":["137192"],"alias_name":["GABA(A) receptor, beta 3"],"gene_symbol":"GABRB3","hgnc_symbol":"GABRB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:26788693-27184686","ensembl_id":"ENSG00000166206"}},"GRch38":{"90":{"location":"15:26543546-26939539","ensembl_id":"ENSG00000166206"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"GABRB3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23934111","27476654"],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Epileptic encephalopathy, early infantile, 43, MIM# 617113"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["DRP1","DVLP","HDYNIV","DYMPLE","VPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:2973","gene_name":"dynamin 1 like","omim_gene":["603850"],"alias_name":null,"gene_symbol":"DNM1L","hgnc_symbol":"DNM1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32832134-32898486","ensembl_id":"ENSG00000087470"}},"GRch38":{"90":{"location":"12:32679200-32745650","ensembl_id":"ENSG00000087470"}}},"hgnc_date_symbol_changed":"2000-04-12"},"entity_type":"gene","entity_name":"DNM1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748"],"evidence":["Literature","ClinGen","Expert Review Green"],"phenotypes":["Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726"],"mode_of_inheritance":"BOTH monoallelic and 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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["LGMD2K"],"biotype":"protein_coding","hgnc_id":"HGNC:9202","gene_name":"protein O-mannosyltransferase 1","omim_gene":["607423"],"alias_name":["dolichyl-phosphate-mannose-protein mannosyltransferase"],"gene_symbol":"POMT1","hgnc_symbol":"POMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:134378289-134399193","ensembl_id":"ENSG00000130714"}},"GRch38":{"90":{"location":"9:131502902-131523806","ensembl_id":"ENSG00000130714"}}},"hgnc_date_symbol_changed":"1999-06-25"},"entity_type":"gene","entity_name":"POMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17878207","19299310"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670","Walker-Walburg syndrome"],"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":"1.567","version_created":"2026-04-23T20:40:49.710516+10:00","relevant_disorders":[],"stats":{"number_of_genes":2208,"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":["UGRP"],"biotype":"protein_coding","hgnc_id":"HGNC:24861","gene_name":"glucose-6-phosphatase catalytic subunit 3","omim_gene":["611045"],"alias_name":null,"gene_symbol":"G6PC3","hgnc_symbol":"G6PC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42148103-42153709","ensembl_id":"ENSG00000141349"}},"GRch38":{"90":{"location":"17:44070735-44076344","ensembl_id":"ENSG00000141349"}}},"hgnc_date_symbol_changed":"2004-03-29"},"entity_type":"gene","entity_name":"G6PC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dursun syndrome, MIM# 612541","MONDO:0012930","Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3829,"hash_id":null,"name":"IBMDx study","disease_group":"","disease_sub_group":"","description":"The inherited bone marrow diseases (IBMD) are a diverse group of diseases featuring single or multi-lineage cytopaenias and numerous potential associated manifestations including multi-organ syndromic features, a predisposition to haematological malignancy and/or a bleeding phenotype.\r\n\r\nThis panel is appropriate to be used for the following phenotypes of IBMD :\r\n-\tFanconi anaemia (excluding BRCA1, BRCA2,  BRIP1 due to their more common association with familial breast cancer risk than FA) \r\n-\tDiamond-Blackfan anaemia\r\n-\tDyskeratosis congenita / telomere biology disorders\r\n-\tShwachman-Diamond syndrome\r\n-\tSevere congenital neutropenia\r\n-\tThrombocytopenia-absent radius syndrome\r\n-\tCongenital amegakaryocytic thrombocytopenia\r\n-\tAdenosine deaminase deficiency\r\n-\tGATA2 deficiency syndrome\r\n-\tSAMD9 / SAMD9L related disorders \r\n-\tCongenital dyserythropoietic anaemia\r\n-\tCongenital sideroblastic anaemia\r\n-\tBernard-Soulier syndrome\r\n\r\nThis panel is being used in the IBMDx study (NCT05196789) – “Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders”\r\n\r\nSome heritable diseases associated with cytopaenias and/or bleeding (for example thalassaemia/haemoglobinopathies and haemophilia) are not assessed with this panel.","status":"public","version":"0.42","version_created":"2026-03-19T18:45:41.236506+11:00","relevant_disorders":[],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Research","slug":"research","description":"Research panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABC16","SPGP","PFIC-2","PGY4"],"biotype":"protein_coding","hgnc_id":"HGNC:42","gene_name":"ATP binding cassette subfamily B member 11","omim_gene":["603201"],"alias_name":["ABC member 16, MDR/TAP subfamily"],"gene_symbol":"ABCB11","hgnc_symbol":"ABCB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:169779448-169887832","ensembl_id":"ENSG00000073734"}},"GRch38":{"90":{"location":"2:168922938-169031322","ensembl_id":"ENSG00000073734"}}},"hgnc_date_symbol_changed":"1998-09-25"},"entity_type":"gene","entity_name":"ABCB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16871584","23141890","9806540","15300568","11172067"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Cholestasis, progressive familial intrahepatic 2, MIM# 601847"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["KIAA0990","CSS1"],"biotype":"protein_coding","hgnc_id":"HGNC:17198","gene_name":"chondroitin sulfate synthase 1","omim_gene":["608183"],"alias_name":null,"gene_symbol":"CHSY1","hgnc_symbol":"CHSY1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:101715928-101792137","ensembl_id":"ENSG00000131873"}},"GRch38":{"90":{"location":"15:101175723-101251932","ensembl_id":"ENSG00000131873"}}},"hgnc_date_symbol_changed":"2008-01-24"},"entity_type":"gene","entity_name":"CHSY1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21129728","21129727","24269551"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Temtamy preaxial brachydactyly syndrome, MIM# 605282"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["JH","HFE2A","RGMC","HJV","hemojuvelin","haemojuvelin"],"biotype":"protein_coding","hgnc_id":"HGNC:4887","gene_name":"hemochromatosis type 2 (juvenile)","omim_gene":["608374"],"alias_name":["repulsive guidance molecule c"],"gene_symbol":"HFE2","hgnc_symbol":"HFE2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145413095-145417545","ensembl_id":"ENSG00000168509"}},"GRch38":{"90":{"location":"1:146017468-146036746","ensembl_id":"ENSG00000168509"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"HFE2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Haemochromatosis, type 2A, 602390 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["HSPC192","FLJ10595","FLJ21788","LARS1","LEUS","RNTLS"],"biotype":"protein_coding","hgnc_id":"HGNC:6512","gene_name":"leucyl-tRNA synthetase","omim_gene":["151350"],"alias_name":["leucine tRNA ligase 1, cytoplasmic"],"gene_symbol":"LARS","hgnc_symbol":"LARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:145492601-145562223","ensembl_id":"ENSG00000133706"}},"GRch38":{"90":{"location":"5:146113038-146182660","ensembl_id":"ENSG00000133706"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"LARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22607940","30349989","28774368"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Infantile liver failure syndrome 1, MIM# 615438"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["hPAK3","bPAK"],"biotype":"protein_coding","hgnc_id":"HGNC:8592","gene_name":"p21 (RAC1) activated kinase 3","omim_gene":["300142"],"alias_name":null,"gene_symbol":"PAK3","hgnc_symbol":"PAK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:110187513-110470589","ensembl_id":"ENSG00000077264"}},"GRch38":{"90":{"location":"X:110944285-111227361","ensembl_id":"ENSG00000077264"}}},"hgnc_date_symbol_changed":"1998-03-25"},"entity_type":"gene","entity_name":"PAK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9731525","10946356","12884430","17853471","18523455","24556213","25666757","27753653","28481730","28126652"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, X-linked 30 MIM#300558"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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":["RNASEHI","RNHIA","RNHL","AGS4"],"biotype":"protein_coding","hgnc_id":"HGNC:18518","gene_name":"ribonuclease H2 subunit A","omim_gene":["606034"],"alias_name":null,"gene_symbol":"RNASEH2A","hgnc_symbol":"RNASEH2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:12917394-12924452","ensembl_id":"ENSG00000104889"}},"GRch38":{"90":{"location":"19:12802063-12813638","ensembl_id":"ENSG00000104889"}}},"hgnc_date_symbol_changed":"2002-06-05"},"entity_type":"gene","entity_name":"RNASEH2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15870678","25604658","23592335","20301648","29239743","16845400","24183309","35551623"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Aicardi-Goutieres syndrome 4 MIM#610333","RNASEH2A-related type 1 interferonopathy MONDO:0700259"],"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":"2.17","version_created":"2026-04-24T17:00:21.626497+10:00","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:3420","gene_name":"epidermal growth factor receptor pathway substrate 8","omim_gene":["600206"],"alias_name":null,"gene_symbol":"EPS8","hgnc_symbol":"EPS8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:15773092-16035263","ensembl_id":"ENSG00000151491"}},"GRch38":{"90":{"location":"12:15620158-15882329","ensembl_id":"ENSG00000151491"}}},"hgnc_date_symbol_changed":"1994-12-19"},"entity_type":"gene","entity_name":"EPS8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"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":["NSRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:7606","gene_name":"myosin VIIA","omim_gene":["276903"],"alias_name":null,"gene_symbol":"MYO7A","hgnc_symbol":"MYO7A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:76839310-76926284","ensembl_id":"ENSG00000137474"}},"GRch38":{"90":{"location":"11:77128264-77215239","ensembl_id":"ENSG00000137474"}}},"hgnc_date_symbol_changed":"1992-06-08"},"entity_type":"gene","entity_name":"MYO7A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category A gene"],"phenotypes":["Deafness, autosomal recessive 2, 600060","Usher syndrome, type 1B, MIM# 276900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["deafness"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:10891","gene_name":"SIX homeobox 5","omim_gene":["600963"],"alias_name":null,"gene_symbol":"SIX5","hgnc_symbol":"SIX5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:46268043-46272484","ensembl_id":"ENSG00000177045"}},"GRch38":{"90":{"location":"19:45764785-45769226","ensembl_id":"ENSG00000177045"}}},"hgnc_date_symbol_changed":"1997-05-29"},"entity_type":"gene","entity_name":"SIX5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Branchiootorenal 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":["BP180"],"biotype":"protein_coding","hgnc_id":"HGNC:2194","gene_name":"collagen type XVII alpha 1 chain","omim_gene":["113811"],"alias_name":null,"gene_symbol":"COL17A1","hgnc_symbol":"COL17A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105791044-105845760","ensembl_id":"ENSG00000065618"}},"GRch38":{"90":{"location":"10:104031286-104086002","ensembl_id":"ENSG00000065618"}}},"hgnc_date_symbol_changed":"1993-09-27"},"entity_type":"gene","entity_name":"COL17A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20301304","21357940"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa, junctional 4, intermediate, MIM# 619787"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["MGC25181","D2HGD","FLJ42195"],"biotype":"protein_coding","hgnc_id":"HGNC:28358","gene_name":"D-2-hydroxyglutarate dehydrogenase","omim_gene":["609186"],"alias_name":null,"gene_symbol":"D2HGDH","hgnc_symbol":"D2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:242673994-242708231","ensembl_id":"ENSG00000180902"}},"GRch38":{"90":{"location":"2:241734579-241768816","ensembl_id":"ENSG00000180902"}}},"hgnc_date_symbol_changed":"2006-03-09"},"entity_type":"gene","entity_name":"D2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15609246","16081310","31349060","20020533","38825343"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["D-2-hydroxyglutaric aciduria, MIM#600721"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["SGC","A3b"],"biotype":"protein_coding","hgnc_id":"HGNC:10806","gene_name":"sarcoglycan beta","omim_gene":["600900"],"alias_name":null,"gene_symbol":"SGCB","hgnc_symbol":"SGCB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:52886872-52904648","ensembl_id":"ENSG00000163069"}},"GRch38":{"90":{"location":"4:52020706-52038482","ensembl_id":"ENSG00000163069"}}},"hgnc_date_symbol_changed":"1995-01-24"},"entity_type":"gene","entity_name":"SGCB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286"],"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":"2.1","version_created":"2026-04-24T17:01:18.976102+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":["KIAA0898","POB1","TEF3"],"biotype":"protein_coding","hgnc_id":"HGNC:7523","gene_name":"tripartite motif containing 37","omim_gene":["605073"],"alias_name":["RING-B-box-coiled-coil protein"],"gene_symbol":"TRIM37","hgnc_symbol":"TRIM37","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:57059999-57184282","ensembl_id":"ENSG00000108395"}},"GRch38":{"90":{"location":"17:58982638-59106921","ensembl_id":"ENSG00000108395"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"TRIM37","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Wilms tumor, MONDO:0006058","Mulibrey nanism, MONDO:0009664","Mulibrey nanism, MIM#253250"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4366,"hash_id":null,"name":"Wilms Tumour","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with Wilms tumour. \r\n\r\nFurther information on the testing criteria for Wilms tumour can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/paediatric/genetic-testing-using-cancer-gene-panels/3703-wilms-tumour-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with Wilms tumour and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nWhere Beckwith-Wiedemann Syndrome (BWS) is suspected it is more appropriate to start with methylation studies of 11p15 BWS region in blood and tissue.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2025-09-05T08:17:06.102713+10:00","relevant_disorders":[],"stats":{"number_of_genes":22,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7329","gene_name":"mutS homolog 6","omim_gene":["600678"],"alias_name":null,"gene_symbol":"MSH6","hgnc_symbol":"MSH6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:47922669-48037240","ensembl_id":"ENSG00000116062"}},"GRch38":{"90":{"location":"2:47695530-47810101","ensembl_id":"ENSG00000116062"}}},"hgnc_date_symbol_changed":"1995-08-29"},"entity_type":"gene","entity_name":"MSH6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Expert Review","Expert list"],"phenotypes":["Prostate cancer, MONDO:0008315","Lynch syndrome 5, MONDO:0013710","Mismatch repair cancer syndrome 3, MONDO:0030841","Lynch syndrome 5, MIM#614350","Mismatch repair cancer syndrome 3, MIM#619097"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":[],"panel":{"id":4372,"hash_id":null,"name":"Prostate Cancer","disease_group":"Cancer Predisposition","disease_sub_group":"","description":"This panel contains genes associated with prostate cancer. \r\n\r\nFurther information on the testing criteria for prostate cancer can be found at eviQ: \r\nhttps://www.eviq.org.au/cancer-genetics/adult/genetic-testing-using-cancer-gene-panels/3648-prostate-cancer-panel-testing\r\n\r\nOnly ‘Green’ genes should be tested and analysed for clinical testing, as they have sufficient peer-reviewed published evidence of association with prostate cancer and are clinically actionable for diagnostic and/or predictive genetic testing.\r\n\r\nEnsure testing includes copy number variant (CNV) analysis, as CNVs contribute to a clinically significant proportion of pathogenic variants associated with familial risk of cancer.\r\n\r\nThis panel has been compared against the Genomics England PanelApp and aligned with any assessments by ClinGen.\r\n\r\nThis panel has been developed under the guidance of experts in cancer genetics (Dr Helen Mar Fan and Dr Nicola Poplawski).","status":"public","version":"1.1","version_created":"2024-11-01T16:34:57.086516+11:00","relevant_disorders":[],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Cancer Germline","slug":"cancer-germline","description":"Germline cancer panel"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Adult Genetics Unit, Royal Adelaide Hospital","slug":"adult-genetics-unit-royal-adelaide-hospital","description":"Adult Genetics Unit, Royal Adelaide Hospital"}],"child_panel_ids":[]},"transcript":[]}]}