{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=38","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=36","results":[{"gene_data":{"alias":["FHR5","FHR-5"],"biotype":"protein_coding","hgnc_id":"HGNC:24668","gene_name":"complement factor H related 5","omim_gene":["608593"],"alias_name":["factor H related protein 5"],"gene_symbol":"CFHR5","hgnc_symbol":"CFHR5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:196946667-196978804","ensembl_id":"ENSG00000134389"}},"GRch38":{"90":{"location":"1:196977556-197009674","ensembl_id":"ENSG00000134389"}}},"hgnc_date_symbol_changed":"2006-02-28"},"entity_type":"gene","entity_name":"CFHR5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30844074","30197990","24067434","21566112","20800271","27490940","24334459"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Nephropathy due to CFHR5 deficiency, MIM#614809"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"panel":{"id":39,"hash_id":null,"name":"Haematuria_Alport","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panels is intended for use in individuals presenting predominantly with haematuria and/or other features strongly suggestive of Alport syndrome. MBS funding is available for testing of the COL4A3, COL4A4 and COL4A5 genes.\r\n\r\nWhere the clinical presentation is less specific but still strongly suggestive of monogenic glomerular disease, please consider using the broader Renal Glomerular Disease panel.\r\n\r\nThis is a consensus panel used by the KidGen Collaborative, VCGS and RMH. 09/01/2020: This panel has been compared with the Genomics England PanelApp Haematuria panel; no discrepancies were identified.","status":"public","version":"1.2","version_created":"2025-06-05T02:00:04.228914+10:00","relevant_disorders":["Hematuria","HP:0000790; Proteinuria","HP:0000093"],"stats":{"number_of_genes":16,"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":["GUCY2B","FLJ14054"],"biotype":"protein_coding","hgnc_id":"HGNC:7945","gene_name":"natriuretic peptide receptor 3","omim_gene":["108962"],"alias_name":["guanylate cyclase C"],"gene_symbol":"NPR3","hgnc_symbol":"NPR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:32689176-32791819","ensembl_id":"ENSG00000113389"}},"GRch38":{"90":{"location":"5:32689070-32791724","ensembl_id":"ENSG00000113389"}}},"hgnc_date_symbol_changed":"1990-03-27"},"entity_type":"gene","entity_name":"NPR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30032985"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Boudin-Mortier syndrome, MIM#619543","Tall stature, skeletal abnormalities, aortic dilatation"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":44,"hash_id":null,"name":"Aortopathy_Connective Tissue Disorders","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and is a consensus panel used by RMH.\r\n\r\nIt contains genes that cause isolated thoracic aortic aneurysm; connective tissue disorders, including Ehlers Danlos syndromes and cutis laxa; and other syndromic/multi-system disorders where connective tissue involvement is prominent.\r\n\r\nThis panel incorporates assessments from the ClinGen Familial Thoracic Aortic Aneurysm and Dissection Gene Curation Expert Panel (PMID: 30071989) and the  \r\nThe 2017 international classification of the Ehlers-Danlos syndromes (PMID: 28306229).\r\n\r\nThe panel has been compared against the Genomics England PanelApp 'Thoracic Aortic Aneurysm and Dissection' and 'Ehlers Danlos syndrome' panels, and all discrepant gene classifications have been resolved with reciprocal feedback provided to Genomics England.\r\n\r\nFurther comparison and consolidation undertaken against the Genomics England/GMS 'Thoracic aortic aneurysm and dissection' panel V4.0 in July 2025.","status":"public","version":"1.105","version_created":"2026-02-05T18:09:24.690760+11:00","relevant_disorders":["Aortic aneurysm","HP:0004942;Joint dislocation","HP:0001373;Cutis laxa","HP:0000973; Ectopia lentis","HP:0001083;Arachnodactyly","HP:0001166"],"stats":{"number_of_genes":100,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16787","gene_name":"ER degradation enhancing alpha-mannosidase like protein 3","omim_gene":["610214"],"alias_name":null,"gene_symbol":"EDEM3","hgnc_symbol":"EDEM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:184659365-184724047","ensembl_id":"ENSG00000116406"}},"GRch38":{"90":{"location":"1:184690231-184754913","ensembl_id":"ENSG00000116406"}}},"hgnc_date_symbol_changed":"2006-03-31"},"entity_type":"gene","entity_name":"EDEM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["34143952"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital disorder of glycosylation, type 2V, MIM# 619493"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":68,"hash_id":null,"name":"Congenital Disorders of Glycosylation","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Congenital Disorders of Glycosylation' panel v2.4 with all discrepancies resolved and reciprocal feedback provided to Genomics England.","status":"public","version":"1.85","version_created":"2026-04-02T10:46:27.496905+11:00","relevant_disorders":["Abnormal transferrin saturation","HP:0040135"],"stats":{"number_of_genes":141,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P85B","p85"],"biotype":"protein_coding","hgnc_id":"HGNC:8980","gene_name":"phosphoinositide-3-kinase regulatory subunit 2","omim_gene":["603157"],"alias_name":["phosphoinositide-3-kinase regulatory subunit beta"],"gene_symbol":"PIK3R2","hgnc_symbol":"PIK3R2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:18263928-18281350","ensembl_id":"ENSG00000105647"}},"GRch38":{"90":{"location":"19:18153118-18170540","ensembl_id":"ENSG00000105647"}}},"hgnc_date_symbol_changed":"1992-12-08"},"entity_type":"gene","entity_name":"PIK3R2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["23754335"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM#\t615937"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":116,"hash_id":null,"name":"Hydrops fetalis","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared with the Genomics England 100K Genomes Fetal Hydrops panel. All discrepancies have been resolved by George McGillivray and Zornitza Stark (30/12/2019), with reciprocal reviews provided to Genomics England PanelApp.","status":"public","version":"0.328","version_created":"2025-07-08T23:27:02.854141+10:00","relevant_disorders":["Hydrops fetalis","HP:0001789"],"stats":{"number_of_genes":169,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["DKFZp564C012","FLJ13576"],"biotype":"protein_coding","hgnc_id":"HGNC:25826","gene_name":"transmembrane protein 168","omim_gene":null,"alias_name":null,"gene_symbol":"TMEM168","hgnc_symbol":"TMEM168","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:112402437-112430647","ensembl_id":"ENSG00000146802"}},"GRch38":{"90":{"location":"7:112762382-112790592","ensembl_id":"ENSG00000146802"}}},"hgnc_date_symbol_changed":"2006-08-08"},"entity_type":"gene","entity_name":"TMEM168","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["https://search.clinicalgenome.org/CCID:009114"],"evidence":["ClinGen"],"phenotypes":["Brugada syndrome MONDO:0015263"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":[]},{"gene_data":{"alias":["DKFZP434K046"],"biotype":"protein_coding","hgnc_id":"HGNC:25302","gene_name":"coenzyme Q9","omim_gene":["612837"],"alias_name":null,"gene_symbol":"COQ9","hgnc_symbol":"COQ9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:57481337-57495187","ensembl_id":"ENSG00000088682"}},"GRch38":{"90":{"location":"16:57447425-57461275","ensembl_id":"ENSG00000088682"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"gene","entity_name":"COQ9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19375058","26081641","23255162","31821167"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coenzyme Q10 deficiency, primary, 5, MIM#614654"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["P450RAI-2"],"biotype":"protein_coding","hgnc_id":"HGNC:20581","gene_name":"cytochrome P450 family 26 subfamily B member 1","omim_gene":["605207"],"alias_name":null,"gene_symbol":"CYP26B1","hgnc_symbol":"CYP26B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:72356367-72375167","ensembl_id":"ENSG00000003137"}},"GRch38":{"90":{"location":"2:72129238-72148038","ensembl_id":"ENSG00000003137"}}},"hgnc_date_symbol_changed":"2004-01-26"},"entity_type":"gene","entity_name":"CYP26B1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27410456","22019272"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["DKFZP586B0923","TTC20","KBP"],"biotype":"protein_coding","hgnc_id":"HGNC:23419","gene_name":"KIF1 binding protein","omim_gene":["609367"],"alias_name":["kinesin binding protein"],"gene_symbol":"KIF1BP","hgnc_symbol":"KIF1BP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:70748487-70776738","ensembl_id":"ENSG00000198954"}},"GRch38":{"90":{"location":"10:68988721-69043544","ensembl_id":"ENSG00000198954"}}},"hgnc_date_symbol_changed":"2015-03-27"},"entity_type":"gene","entity_name":"KIF1BP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23427148"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Goldberg-Shprintzen megacolon syndrome, MIM# 609460"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["IKK1","IKK-alpha","IkBKA","NFKBIKA","IKKA"],"biotype":"protein_coding","hgnc_id":"HGNC:1974","gene_name":"conserved helix-loop-helix ubiquitous kinase","omim_gene":["600664"],"alias_name":["inhibitor of nuclear factor kappa-B kinase subunit alpha","I-kappa-B kinase"],"gene_symbol":"CHUK","hgnc_symbol":"CHUK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:101948055-101989376","ensembl_id":"ENSG00000213341"}},"GRch38":{"90":{"location":"10:100188298-100229619","ensembl_id":"ENSG00000213341"}}},"hgnc_date_symbol_changed":"1995-03-15"},"entity_type":"gene","entity_name":"CHUK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25691407","20961246","10195895","10195896","29523099","28513979","34533979"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined immunodeficiency, MONDO:0015131, CHUK-related","Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339","Cocoon syndrome, MIM# 613630","AEC-like syndrome"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:5135","gene_name":"homeobox D12","omim_gene":["142988"],"alias_name":null,"gene_symbol":"HOXD12","hgnc_symbol":"HOXD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:176964458-176966408","ensembl_id":"ENSG00000170178"}},"GRch38":{"90":{"location":"2:176099730-176101193","ensembl_id":"ENSG00000170178"}}},"hgnc_date_symbol_changed":"1991-05-08"},"entity_type":"gene","entity_name":"HOXD12","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"Other","publications":["38663984"],"evidence":["Expert Review Amber","Other"],"phenotypes":["Clubfoot (non-syndromic) MONDO:0007342"],"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":"1.4733","version_created":"2026-04-09T11:50:28.536610+10:00","relevant_disorders":[],"stats":{"number_of_genes":6013,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["EB-1","AIDA-1","cajalin-2","ANKS2"],"biotype":"protein_coding","hgnc_id":"HGNC:24600","gene_name":"ankyrin repeat and sterile alpha motif domain containing 1B","omim_gene":["607815"],"alias_name":null,"gene_symbol":"ANKS1B","hgnc_symbol":"ANKS1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:99120235-100378432","ensembl_id":"ENSG00000185046"}},"GRch38":{"90":{"location":"12:98726457-99984654","ensembl_id":"ENSG00000185046"}}},"hgnc_date_symbol_changed":"2006-02-17"},"entity_type":"gene","entity_name":"ANKS1B","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["PMID: 31388001","38129387"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), ANKS1B-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV"],"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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Genomics England PanelApp Proteinuric Renal Disease panel and all discrepancies have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.","status":"public","version":"0.239","version_created":"2026-03-12T18:51:41.043263+11:00","relevant_disorders":["Proteinuria HP:0000093"],"stats":{"number_of_genes":88,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"KidGen","slug":"kidgen","description":"Panel used by the KidGen Collaborative."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["STL1"],"biotype":"protein_coding","hgnc_id":"HGNC:2200","gene_name":"collagen type II alpha 1 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Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["71-7A","JBTS10"],"biotype":"protein_coding","hgnc_id":"HGNC:2567","gene_name":"OFD1, centriole and centriolar satellite protein","omim_gene":["300170"],"alias_name":null,"gene_symbol":"OFD1","hgnc_symbol":"OFD1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:13752832-13787480","ensembl_id":"ENSG00000046651"}},"GRch38":{"90":{"location":"X:13734745-13769353","ensembl_id":"ENSG00000046651"}}},"hgnc_date_symbol_changed":"1998-10-01"},"entity_type":"gene","entity_name":"OFD1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Orofaciodigital syndrome I, MIM# 311200"],"mode_of_inheritance":"Other","tags":[],"panel":{"id":179,"hash_id":null,"name":"Skeletal Ciliopathies","disease_group":"Skeletal 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Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ11457","JBTS11","NPHP12","IFT139B","THM1"],"biotype":"protein_coding","hgnc_id":"HGNC:25660","gene_name":"tetratricopeptide repeat domain 21B","omim_gene":["612014"],"alias_name":null,"gene_symbol":"TTC21B","hgnc_symbol":"TTC21B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:166713985-166810353","ensembl_id":"ENSG00000123607"}},"GRch38":{"90":{"location":"2:165857475-165953843","ensembl_id":"ENSG00000123607"}}},"hgnc_date_symbol_changed":"2005-01-26"},"entity_type":"gene","entity_name":"TTC21B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29068549","25492405","21258341"],"evidence":["Expert Review Green","KidGen_CilioNephronop v38.1.0"],"phenotypes":["Nephronophthisis 12, MIM# 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panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VASAP-60","GIIB"],"biotype":"protein_coding","hgnc_id":"HGNC:9411","gene_name":"protein kinase C substrate 80K-H","omim_gene":["177060"],"alias_name":["advanced glycation end-product receptor 2","glucosidase II beta subunit","glucosidase 2 subunit beta","hepatocystin"],"gene_symbol":"PRKCSH","hgnc_symbol":"PRKCSH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11546109-11561783","ensembl_id":"ENSG00000130175"}},"GRch38":{"90":{"location":"19:11435288-11450968","ensembl_id":"ENSG00000130175"}}},"hgnc_date_symbol_changed":"1989-06-06"},"entity_type":"gene","entity_name":"PRKCSH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12577059"],"evidence":["Expert Review Green","KidGen_Cystic v38.1.0"],"phenotypes":["Polycystic liver disease 1, MIM# 174050, with or without kidney cysts"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":194,"hash_id":null,"name":"Renal Macrocystic Disease","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel is developed was developed and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.\r\n\r\nThis panel contains genes that cause macrocystic kidney disease. Many of the disorders also have a polycystic liver disease, either as the predominant phenotype or in association with primary kidney cysts.","status":"public","version":"1.0","version_created":"2026-03-24T16:17:17.075108+11:00","relevant_disorders":["Renal cyst","HP:0000107"],"stats":{"number_of_genes":31,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ATP6","ATPase-6","Su6m"],"biotype":"protein_coding","hgnc_id":"HGNC:7414","gene_name":"mitochondrially encoded ATP synthase 6","omim_gene":["516060"],"alias_name":null,"gene_symbol":"MT-ATP6","hgnc_symbol":"MT-ATP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}},"GRch38":{"90":{"location":"MT:8527-9207","ensembl_id":"ENSG00000198899"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ATP6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40112238"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"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":[]},{"gene_data":{"alias":["CYB560","cybL"],"biotype":"protein_coding","hgnc_id":"HGNC:10682","gene_name":"succinate dehydrogenase complex subunit C","omim_gene":["602413"],"alias_name":["succinate dehydrogenase cytochrome b560 subunit","succinate dehydrgenase cytochrome b","large subunit of cytochrome b"],"gene_symbol":"SDHC","hgnc_symbol":"SDHC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161284047-161332984","ensembl_id":"ENSG00000143252"}},"GRch38":{"90":{"location":"1:161314257-161375340","ensembl_id":"ENSG00000143252"}}},"hgnc_date_symbol_changed":"1997-10-21"},"entity_type":"gene","entity_name":"SDHC","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["31469588","29884839"],"evidence":["Expert Review Red"],"phenotypes":["Mitochondrial disease MONDO:0044970"],"mode_of_inheritance":"Unknown","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":["MGC4767"],"biotype":"protein_coding","hgnc_id":"HGNC:28722","gene_name":"coenzyme Q5, methyltransferase","omim_gene":["616359"],"alias_name":["2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"],"gene_symbol":"COQ5","hgnc_symbol":"COQ5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:120941077-120972237","ensembl_id":"ENSG00000110871"}},"GRch38":{"90":{"location":"12:120503274-120534434","ensembl_id":"ENSG00000110871"}}},"hgnc_date_symbol_changed":"2006-01-13"},"entity_type":"gene","entity_name":"COQ5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29044765","37599337","21937992","41199775","36266294"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Coenzyme Q10 deficiency, primary, 9 MIM#619028"],"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 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1"],"gene_symbol":"PRRT2","hgnc_symbol":"PRRT2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:29823177-29827201","ensembl_id":"ENSG00000167371"}},"GRch38":{"90":{"location":"16:29811382-29815892","ensembl_id":"ENSG00000167371"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"PRRT2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33126500"],"evidence":["Expert Review Green","Royal Children's Hospital Neurology Department","Victorian Clinical Genetics Services"],"phenotypes":["PRRT2-associated paroxysmal movement disorder MONDO:0100556"],"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":["QN1"],"biotype":"protein_coding","hgnc_id":"HGNC:21107","gene_name":"centrosomal protein 162","omim_gene":["610201"],"alias_name":null,"gene_symbol":"CEP162","hgnc_symbol":"CEP162","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:84833960-84937353","ensembl_id":"ENSG00000135315"}},"GRch38":{"90":{"location":"6:84124241-84227635","ensembl_id":"ENSG00000135315"}}},"hgnc_date_symbol_changed":"2014-03-06"},"entity_type":"gene","entity_name":"CEP162","confidence_level":"2","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["36862503"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Retinitis pigmentosa MONDO:0019200, CEP162-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":277,"hash_id":null,"name":"Retinitis pigmentosa","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause nonsyndromic retinitis pigmentosa and Leber congenital amaurosis. \r\nNote: Exome sequencing may not be a suitable technique for detecting pathogenic variants in RPGR due to regions of low coverage.\r\n\r\nPlease consider the Syndromic Retinopathy and the Retinal Disorders Superpanel when additional features are present.","status":"public","version":"0.245","version_created":"2026-03-28T13:33:23.781842+11:00","relevant_disorders":["Abnormal retinal morphology","HP:0000479"],"stats":{"number_of_genes":159,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["B8"],"biotype":"protein_coding","hgnc_id":"HGNC:7685","gene_name":"NADH:ubiquinone oxidoreductase subunit A2","omim_gene":["602137"],"alias_name":["complex I B8 subunit"],"gene_symbol":"NDUFA2","hgnc_symbol":"NDUFA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:140018325-140027370","ensembl_id":"ENSG00000131495"}},"GRch38":{"90":{"location":"5:140638740-140647785","ensembl_id":"ENSG00000131495"}}},"hgnc_date_symbol_changed":"1996-08-30"},"entity_type":"gene","entity_name":"NDUFA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28857146","32154054","18513682"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 13 618235","leukoencephalopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":298,"hash_id":null,"name":"Leukodystrophy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause white matter disorders (including leukoencephalopathies) of paediatric, adolescent, and adult onset. The panel was developed by RMH and is a consensus panel used by VCGS.","status":"public","version":"0.394","version_created":"2026-04-07T13:49:15.516142+10:00","relevant_disorders":["Leukodystrophy","HP:0002415; Abnormal cerebral white matter morphology","HP:0002500; Abnormal CNS myelination","HP:0011400"],"stats":{"number_of_genes":262,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["ARH","ARH2","FHCB1","FHCB2","MGC34705","DKFZp586D0624"],"biotype":"protein_coding","hgnc_id":"HGNC:18640","gene_name":"low density lipoprotein receptor adaptor protein 1","omim_gene":["605747"],"alias_name":null,"gene_symbol":"LDLRAP1","hgnc_symbol":"LDLRAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:25870071-25895377","ensembl_id":"ENSG00000157978"}},"GRch38":{"90":{"location":"1:25543580-25568886","ensembl_id":"ENSG00000157978"}}},"hgnc_date_symbol_changed":"2005-02-24"},"entity_type":"gene","entity_name":"LDLRAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["4351242"],"evidence":["Expert Review Green","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypercholesterolemia, familial, 4, MIM# 603813"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":333,"hash_id":null,"name":"Familial hypercholesterolaemia","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes associated with familial hypercholestrolaemia. Please note MBS funding for familial hypercholestrolaemia covers:\r\nCharacterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient:\r\n(a) for whom no familial mutation has been identified; and\r\n(b) who has any of the following:\r\n·         (i) a Dutch Lipid Clinic Network score of at least 6;\r\n·         (ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;\r\n·         (iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis\r\n\r\nPlease also refer to the Dyslipidaemia panel.","status":"public","version":"1.0","version_created":"2024-12-04T13:37:18.095728+11:00","relevant_disorders":["Abnormal circulating cholesterol concentration","HP:0003107"],"stats":{"number_of_genes":12,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["P5CS"],"biotype":"protein_coding","hgnc_id":"HGNC:9722","gene_name":"aldehyde dehydrogenase 18 family member A1","omim_gene":["138250"],"alias_name":null,"gene_symbol":"ALDH18A1","hgnc_symbol":"ALDH18A1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:97365696-97416463","ensembl_id":"ENSG00000059573"}},"GRch38":{"90":{"location":"10:95605929-95656706","ensembl_id":"ENSG00000059573"}}},"hgnc_date_symbol_changed":"2004-08-12"},"entity_type":"gene","entity_name":"ALDH18A1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Adolescent-onset and adult-onset spastic paraplegia, dysarthria and motor neuronopathy, cataracts, skeletal abnormalities"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC13251"],"biotype":"protein_coding","hgnc_id":"HGNC:23791","gene_name":"inverted formin, FH2 and WH2 domain containing","omim_gene":["610982"],"alias_name":["inverted formin 2"],"gene_symbol":"INF2","hgnc_symbol":"INF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:105155943-105185942","ensembl_id":"ENSG00000203485"}},"GRch38":{"90":{"location":"14:104689606-104722535","ensembl_id":"ENSG00000203485"}}},"hgnc_date_symbol_changed":"2007-11-29"},"entity_type":"gene","entity_name":"INF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22187985","30680856","25943269"],"evidence":["Royal Melbourne Hospital","Expert Review Green","Expert Review Green"],"phenotypes":["Charcot Marie Tooth disease, dominant intermediate E, 614455","HMSN"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3070,"hash_id":null,"name":"Hereditary Neuropathy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause the following hereditary neuropathies in isolated forms or part of a complex phenotype, including complex neurological phenotypes, metabolic and syndromic disorders: \r\n- Charcot-Marie-Tooth disease or hereditary motor/sensory neuropathy (HMSN) \r\n- distal hereditary motor neuropathy (dHMN)\r\n- distal spinal muscular atrophy (dSMA) \r\n- hereditary sensory and autonomic neuropathy (HSAN)\r\n- small fibre neuropathy (SFN),","status":"public","version":"1.190","version_created":"2026-03-31T19:04:58.660686+11:00","relevant_disorders":["Peripheral neuropathy","HP:0009830"],"stats":{"number_of_genes":277,"number_of_strs":6,"number_of_regions":2},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ACTSG"],"biotype":"protein_coding","hgnc_id":"HGNC:145","gene_name":"actin, gamma 2, smooth muscle, enteric","omim_gene":["102545"],"alias_name":null,"gene_symbol":"ACTG2","hgnc_symbol":"ACTG2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:74119441-74146992","ensembl_id":"ENSG00000163017"}},"GRch38":{"90":{"location":"2:73892314-73919865","ensembl_id":"ENSG00000163017"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"ACTG2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24676022","26647307"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Visceral myopathy, 155310","Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. 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":null},{"gene_data":{"alias":["CD171"],"biotype":"protein_coding","hgnc_id":"HGNC:6470","gene_name":"L1 cell adhesion molecule","omim_gene":["308840"],"alias_name":["neural cell adhesion molecule L1"],"gene_symbol":"L1CAM","hgnc_symbol":"L1CAM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153126969-153174677","ensembl_id":"ENSG00000198910"}},"GRch38":{"90":{"location":"X:153861514-153909223","ensembl_id":"ENSG00000198910"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"L1CAM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9279760","11857550","15148591","15368500","22354677"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3087,"hash_id":null,"name":"Gastrointestinal neuromuscular disease","disease_group":"Gastroenterological disorders","disease_sub_group":"","description":"This panel contains genes that cause disorders where intestinal pseudo-obstruction is a prominent feature of the condition.\r\n\r\nIt was previously known as 'Visceral Myopathy', and was developed and is maintained by RMH. 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":["FLJ20450","mtSerRS","SerRSmt","SARS","SERS","SYS"],"biotype":"protein_coding","hgnc_id":"HGNC:17697","gene_name":"seryl-tRNA synthetase 2, mitochondrial","omim_gene":["612804"],"alias_name":["serine tRNA ligase 2, mitochondrial"],"gene_symbol":"SARS2","hgnc_symbol":"SARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39405906-39440495","ensembl_id":"ENSG00000104835"}},"GRch38":{"90":{"location":"19:38915266-38930896","ensembl_id":"ENSG00000104835"}}},"hgnc_date_symbol_changed":"2002-10-09"},"entity_type":"gene","entity_name":"SARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["24034276","21255763","33751860"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3095,"hash_id":null,"name":"Pulmonary Arterial Hypertension","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel is maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.\r\n\r\nThe content of this panel has been compared against the Genomics England 'Pulmonary Arterial Hypertension' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 27/07/2020.\r\n\r\nThe content of this panel has been aligned with curations by the ClinGen PAH GCEP, PMID 37422716, 07/08/2023.","status":"public","version":"1.57","version_created":"2026-04-07T13:46:27.864798+10:00","relevant_disorders":["Pulmonary arterial hypertension","HP:0002092"],"stats":{"number_of_genes":37,"number_of_strs":0,"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":["TRAPD"],"biotype":"protein_coding","hgnc_id":"HGNC:11326","gene_name":"signal sequence receptor subunit 4","omim_gene":["300090"],"alias_name":["translocon-associated protein delta"],"gene_symbol":"SSR4","hgnc_symbol":"SSR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153058971-153063960","ensembl_id":"ENSG00000180879"}},"GRch38":{"90":{"location":"X:153793516-153798505","ensembl_id":"ENSG00000180879"}}},"hgnc_date_symbol_changed":"1997-11-04"},"entity_type":"gene","entity_name":"SSR4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Congenital disorder of glycosylation, type Iy, 300934 (3), X-linked recessive"],"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":["FAF"],"biotype":"protein_coding","hgnc_id":"HGNC:3587","gene_name":"Fanconi anemia complementation group F","omim_gene":["613897"],"alias_name":null,"gene_symbol":"FANCF","hgnc_symbol":"FANCF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:22644079-22647387","ensembl_id":"ENSG00000183161"}},"GRch38":{"90":{"location":"11:22622519-22626787","ensembl_id":"ENSG00000183161"}}},"hgnc_date_symbol_changed":"1998-08-26"},"entity_type":"gene","entity_name":"FANCF","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Fanconi anemia, complementation group F, 603467 (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":["CMT4","CMT2K"],"biotype":"protein_coding","hgnc_id":"HGNC:15968","gene_name":"ganglioside induced differentiation associated protein 1","omim_gene":["606598"],"alias_name":null,"gene_symbol":"GDAP1","hgnc_symbol":"GDAP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:75233365-75401107","ensembl_id":"ENSG00000104381"}},"GRch38":{"90":{"location":"8:74321130-74488872","ensembl_id":"ENSG00000104381"}}},"hgnc_date_symbol_changed":"2001-06-25"},"entity_type":"gene","entity_name":"GDAP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (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":["SARCOSIN","Krp1"],"biotype":"protein_coding","hgnc_id":"HGNC:16905","gene_name":"kelch like family member 41","omim_gene":["607701"],"alias_name":["sarcomeric muscle protein"],"gene_symbol":"KLHL41","hgnc_symbol":"KLHL41","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:170366212-170382772","ensembl_id":"ENSG00000239474"}},"GRch38":{"90":{"location":"2:169509702-169526262","ensembl_id":"ENSG00000239474"}}},"hgnc_date_symbol_changed":"2013-01-08"},"entity_type":"gene","entity_name":"KLHL41","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Nemaline myopathy 9, 615731 (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":["cblG"],"biotype":"protein_coding","hgnc_id":"HGNC:7468","gene_name":"5-methyltetrahydrofolate-homocysteine methyltransferase","omim_gene":["156570"],"alias_name":null,"gene_symbol":"MTR","hgnc_symbol":"MTR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:236958610-237067281","ensembl_id":"ENSG00000116984"}},"GRch38":{"90":{"location":"1:236795281-236903981","ensembl_id":"ENSG00000116984"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MTR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (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":["ADGF"],"biotype":"protein_coding","hgnc_id":"HGNC:1839","gene_name":"adenosine deaminase 2","omim_gene":["607575"],"alias_name":null,"gene_symbol":"ADA2","hgnc_symbol":"ADA2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:17660194-17702879","ensembl_id":"ENSG00000093072"}},"GRch38":{"90":{"location":"22:17178790-17221989","ensembl_id":"ENSG00000093072"}}},"hgnc_date_symbol_changed":"2017-02-16"},"entity_type":"gene","entity_name":"ADA2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["3471198, 25528372"],"evidence":["Expert Review Green","Expert Review Green","Literature","Genomics England PanelApp","Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Sneddon syndrome  182410","Polyarteritis nodosa"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3144,"hash_id":null,"name":"Cerebral vascular malformations","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes associated with cerebral vascular malformations, including:\r\nVein of Galen malformation\r\nCerebral vascular malformations\r\nMoyamoya disease\r\n\r\nConsider applying the Stroke and Aortopathy_Connective Tissue Disorders panels due to overlap in clinical features.\r\nWith thanks to the Genomics England PanelApp team for the original design.","status":"public","version":"1.12","version_created":"2026-01-22T10:52:30.127872+11:00","relevant_disorders":["Abnormal cerebral vascular morphology HP:0100659"],"stats":{"number_of_genes":54,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MDC9","KIAA0021","MCMP","Mltng"],"biotype":"protein_coding","hgnc_id":"HGNC:216","gene_name":"ADAM metallopeptidase domain 9","omim_gene":["602713"],"alias_name":["meltrin gamma"],"gene_symbol":"ADAM9","hgnc_symbol":"ADAM9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:38854388-38962663","ensembl_id":"ENSG00000168615"}},"GRch38":{"90":{"location":"8:38996869-39105144","ensembl_id":"ENSG00000168615"}}},"hgnc_date_symbol_changed":"1998-12-01"},"entity_type":"gene","entity_name":"ADAM9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Cone-rod dystrophy 9, 612775"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3147,"hash_id":null,"name":"Cone-rod Dystrophy","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause non-syndromic cone and cone-rod dystrophies, characterised by cone photoreceptor degeneration, which may be followed by subsequent rod photoreceptor loss. This panel was developed and is maintained by RMH, and is a consensus panel used by VCGS.\r\n\r\nConsider using the broader Retinal Disorders superpanel when ophthalmological findings are not specific for this sub-group of disorders, particularly in individuals early in the diagnostic trajectory or where additional features are present.","status":"public","version":"0.67","version_created":"2026-04-01T10:29:43.490911+11:00","relevant_disorders":["Retinal dystrophy","HP:0000556"],"stats":{"number_of_genes":41,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NOHLH","TEB2","bA100C15.3","bHLHe80","SPATA27"],"biotype":"protein_coding","hgnc_id":"HGNC:27845","gene_name":"spermatogenesis and oogenesis specific basic helix-loop-helix 1","omim_gene":["610224"],"alias_name":["spermatogenesis associated 27"],"gene_symbol":"SOHLH1","hgnc_symbol":"SOHLH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:138585253-138591374","ensembl_id":"ENSG00000165643"}},"GRch38":{"90":{"location":"9:135693407-135699528","ensembl_id":"ENSG00000165643"}}},"hgnc_date_symbol_changed":"2006-03-16"},"entity_type":"gene","entity_name":"SOHLH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25774885","16690745","31042289"],"evidence":["Genetic Health QLD","Expert Review Green","NHS GMS"],"phenotypes":["Ovarian dysgenesis 5 MIM#617690"],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","version_created":"2026-04-06T10:52:55.877866+10:00","relevant_disorders":["Premature ovarian insufficiency","HP:0008209"],"stats":{"number_of_genes":164,"number_of_strs":2,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RACE","P504S"],"biotype":"protein_coding","hgnc_id":"HGNC:451","gene_name":"alpha-methylacyl-CoA racemase","omim_gene":["604489"],"alias_name":null,"gene_symbol":"AMACR","hgnc_symbol":"AMACR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:33986283-34008220","ensembl_id":"ENSG00000242110"}},"GRch38":{"90":{"location":"5:33986178-34008108","ensembl_id":"ENSG00000242110"}}},"hgnc_date_symbol_changed":"1999-10-19"},"entity_type":"gene","entity_name":"AMACR","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Alpha-methylacyl-CoA racemase deficiency","Bile acid synthesis defect, congenital, 4"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:663","gene_name":"arginase 1","omim_gene":["608313"],"alias_name":null,"gene_symbol":"ARG1","hgnc_symbol":"ARG1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:131894284-131905472","ensembl_id":"ENSG00000118520"}},"GRch38":{"90":{"location":"6:131573144-131584332","ensembl_id":"ENSG00000118520"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"ARG1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Arginase deficiency"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CHS"],"biotype":"protein_coding","hgnc_id":"HGNC:1968","gene_name":"lysosomal trafficking regulator","omim_gene":["606897"],"alias_name":null,"gene_symbol":"LYST","hgnc_symbol":"LYST","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:235824341-236046940","ensembl_id":"ENSG00000143669"}},"GRch38":{"90":{"location":"1:235661041-235883640","ensembl_id":"ENSG00000143669"}}},"hgnc_date_symbol_changed":"2004-12-10"},"entity_type":"gene","entity_name":"LYST","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Chediak-Higashi 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":["FLJ20551"],"biotype":"protein_coding","hgnc_id":"HGNC:26054","gene_name":"solute carrier family 25 member 38","omim_gene":["610819"],"alias_name":null,"gene_symbol":"SLC25A38","hgnc_symbol":"SLC25A38","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:39424839-39438842","ensembl_id":"ENSG00000144659"}},"GRch38":{"90":{"location":"3:39383348-39397351","ensembl_id":"ENSG00000144659"}}},"hgnc_date_symbol_changed":"2006-09-21"},"entity_type":"gene","entity_name":"SLC25A38","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive"],"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":["p53","LFS1"],"biotype":"protein_coding","hgnc_id":"HGNC:11998","gene_name":"tumor protein p53","omim_gene":["191170"],"alias_name":["Li-Fraumeni syndrome"],"gene_symbol":"TP53","hgnc_symbol":"TP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:7565097-7590856","ensembl_id":"ENSG00000141510"}},"GRch38":{"90":{"location":"17:7661779-7687550","ensembl_id":"ENSG00000141510"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TP53","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","NSW Health Pathology"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RAD51L2","FANCO"],"biotype":"protein_coding","hgnc_id":"HGNC:9820","gene_name":"RAD51 paralog C","omim_gene":["602774"],"alias_name":null,"gene_symbol":"RAD51C","hgnc_symbol":"RAD51C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:56769934-56811703","ensembl_id":"ENSG00000108384"}},"GRch38":{"90":{"location":"17:58692573-58735611","ensembl_id":"ENSG00000108384"}}},"hgnc_date_symbol_changed":"1998-02-26"},"entity_type":"gene","entity_name":"RAD51C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29278735","20400963"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Fanconi anemia, complementation group O, MIM# 613390"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NPR2L","NPR2"],"biotype":"protein_coding","hgnc_id":"HGNC:24969","gene_name":"NPR2 like, GATOR1 complex subunit","omim_gene":["607072"],"alias_name":null,"gene_symbol":"NPRL2","hgnc_symbol":"NPRL2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50384761-50388522","ensembl_id":"ENSG00000114388"}},"GRch38":{"90":{"location":"3:50347330-50351091","ensembl_id":"ENSG00000114388"}}},"hgnc_date_symbol_changed":"2010-03-30"},"entity_type":"gene","entity_name":"NPRL2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["29281825","27173016","31625153","33461085","22268191"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Epilepsy, familial focal, with variable foci 2 - MIM#617116"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["gC1Q-R","gC1qR","p32","SF2p32"],"biotype":"protein_coding","hgnc_id":"HGNC:1243","gene_name":"complement C1q binding protein","omim_gene":["601269"],"alias_name":["C1q globular domain-binding protein","hyaluronan-binding protein 1","splicing factor SF2-associated protein"],"gene_symbol":"C1QBP","hgnc_symbol":"C1QBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:5336097-5352150","ensembl_id":"ENSG00000108561"}},"GRch38":{"90":{"location":"17:5432777-5448830","ensembl_id":"ENSG00000108561"}}},"hgnc_date_symbol_changed":"1995-12-11"},"entity_type":"gene","entity_name":"C1QBP","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28942965"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Combined oxidative phosphorylation deficiency 33, MIM# 617713","severe neonatal cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["COD","SmB/SmB'","Sm-B/B'","snRNP-B"],"biotype":"protein_coding","hgnc_id":"HGNC:11153","gene_name":"small nuclear ribonucleoprotein polypeptides B and B1","omim_gene":["182282"],"alias_name":null,"gene_symbol":"SNRPB","hgnc_symbol":"SNRPB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2442280-2451499","ensembl_id":"ENSG00000125835"}},"GRch38":{"90":{"location":"20:2461634-2470853","ensembl_id":"ENSG00000125835"}}},"hgnc_date_symbol_changed":"1988-11-28"},"entity_type":"gene","entity_name":"SNRPB","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25047197","25504470","26971886"],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Cerebrocostomandibular syndrome, MIM# 117650"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["GLUT10"],"biotype":"protein_coding","hgnc_id":"HGNC:13444","gene_name":"solute carrier family 2 member 10","omim_gene":["606145"],"alias_name":null,"gene_symbol":"SLC2A10","hgnc_symbol":"SLC2A10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:45338126-45364965","ensembl_id":"ENSG00000197496"}},"GRch38":{"90":{"location":"20:46709487-46736347","ensembl_id":"ENSG00000197496"}}},"hgnc_date_symbol_changed":"2001-04-02"},"entity_type":"gene","entity_name":"SLC2A10","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Arterial tortuosity syndrome, MIM# 208050"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["NAC1","NAC-1","BEND8","BTBD30"],"biotype":"protein_coding","hgnc_id":"HGNC:20967","gene_name":"nucleus accumbens associated 1","omim_gene":["610672"],"alias_name":["nucleus accumbens associated 1","BEN domain containing 8"],"gene_symbol":"NACC1","hgnc_symbol":"NACC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:13228917-13251955","ensembl_id":"ENSG00000160877"}},"GRch38":{"90":{"location":"19:13118103-13141141","ensembl_id":"ENSG00000160877"}}},"hgnc_date_symbol_changed":"2008-10-03"},"entity_type":"gene","entity_name":"NACC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28132692"],"evidence":["Expert Review Green","Genomics England PanelApp","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination delayed brain myelination, MIM# 617393)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["ABP-280"],"biotype":"protein_coding","hgnc_id":"HGNC:3754","gene_name":"filamin A","omim_gene":["300017"],"alias_name":["actin binding protein 280","alpha filamin"],"gene_symbol":"FLNA","hgnc_symbol":"FLNA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153576892-153603006","ensembl_id":"ENSG00000196924"}},"GRch38":{"90":{"location":"X:154348524-154374638","ensembl_id":"ENSG00000196924"}}},"hgnc_date_symbol_changed":"1993-03-18"},"entity_type":"gene","entity_name":"FLNA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30712878","28425981","12612583"],"evidence":["Expert Review Green","Genomics England PanelApp","Expert list"],"phenotypes":["Melnick-Needles syndrome, 309350","Otopalatodigital syndrome, type I 311300","Otopalatodigital syndrome, type II 304120","Terminal osseous dysplasia 300244","Heterotopia, periventricular, 1 MIM# 300049 Cardiac valvular dysplasia, X-linked MIM# 314400"],"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":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["BLOC1S7","BORCS3"],"biotype":"protein_coding","hgnc_id":"HGNC:17145","gene_name":"SNAP associated protein","omim_gene":["607007"],"alias_name":["snapin","SNAP-25-binding protein","biogenesis of lysosomal organelles complex-1, subunit 7"],"gene_symbol":"SNAPIN","hgnc_symbol":"SNAPIN","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:153631130-153634306","ensembl_id":"ENSG00000143553"}},"GRch38":{"90":{"location":"1:153658654-153661830","ensembl_id":"ENSG00000143553"}}},"hgnc_date_symbol_changed":"2007-11-14"},"entity_type":"gene","entity_name":"SNAPIN","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40930097","26539891"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, MIM# 621393"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HSPC150","FANCT"],"biotype":"protein_coding","hgnc_id":"HGNC:25009","gene_name":"ubiquitin conjugating enzyme E2 T","omim_gene":["610538"],"alias_name":null,"gene_symbol":"UBE2T","hgnc_symbol":"UBE2T","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:202300785-202311108","ensembl_id":"ENSG00000077152"}},"GRch38":{"90":{"location":"1:202331657-202341980","ensembl_id":"ENSG00000077152"}}},"hgnc_date_symbol_changed":"2005-03-21"},"entity_type":"gene","entity_name":"UBE2T","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","IBMDx Study","Expert Review Green","Expert list"],"phenotypes":["Fanconi anemia, complementation group T, MIM# 616435"],"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":["EIF2Bgamma","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3259","gene_name":"eukaryotic translation initiation factor 2B subunit gamma","omim_gene":["606273"],"alias_name":null,"gene_symbol":"EIF2B3","hgnc_symbol":"EIF2B3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45316450-45452282","ensembl_id":"ENSG00000070785"}},"GRch38":{"90":{"location":"1:44850522-44986722","ensembl_id":"ENSG00000070785"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11835386","19158808","21484434","18263758","25843247","25761052","28904586","28597716"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRANCE","RANKL","OPGL","ODF","CD254"],"biotype":"protein_coding","hgnc_id":"HGNC:11926","gene_name":"TNF superfamily member 11","omim_gene":["602642"],"alias_name":null,"gene_symbol":"TNFSF11","hgnc_symbol":"TNFSF11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:43136872-43182149","ensembl_id":"ENSG00000120659"}},"GRch38":{"90":{"location":"13:42562736-42608013","ensembl_id":"ENSG00000120659"}}},"hgnc_date_symbol_changed":"1998-12-04"},"entity_type":"gene","entity_name":"TNFSF11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17632511","36031188","32940787","32048120","10984520"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Osteopetrosis, autosomal recessive 2, MIM#259710"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ20303","TRM4","Misu"],"biotype":"protein_coding","hgnc_id":"HGNC:25994","gene_name":"NOP2/Sun RNA methyltransferase family member 2","omim_gene":["610916"],"alias_name":["tRNA methyltransferase 4 homolog (S. cerevisiae)","Myc-induced SUN-domain-containing protein"],"gene_symbol":"NSUN2","hgnc_symbol":"NSUN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:6599352-6633404","ensembl_id":"ENSG00000037474"}},"GRch38":{"90":{"location":"5:6599239-6633291","ensembl_id":"ENSG00000037474"}}},"hgnc_date_symbol_changed":"2004-08-25"},"entity_type":"gene","entity_name":"NSUN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22541559","22541562","21063731"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Intellectual developmental disorder, autosomal recessive 5, MIM# 611091"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC15668","4-HPPD-L"],"biotype":"protein_coding","hgnc_id":"HGNC:28242","gene_name":"4-hydroxyphenylpyruvate dioxygenase like","omim_gene":null,"alias_name":null,"gene_symbol":"HPDL","hgnc_symbol":"HPDL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:45792545-45794347","ensembl_id":"ENSG00000186603"}},"GRch38":{"90":{"location":"1:45326905-45328533","ensembl_id":"ENSG00000186603"}}},"hgnc_date_symbol_changed":"2007-03-14"},"entity_type":"gene","entity_name":"HPDL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":[],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026","Spastic paraplegia 83, autosomal recessive MIM#619027","Leigh syndrome MONDO:0009723"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HMSNIB","CMT2I","CMT2J"],"biotype":"protein_coding","hgnc_id":"HGNC:7225","gene_name":"myelin protein zero","omim_gene":["159440"],"alias_name":null,"gene_symbol":"MPZ","hgnc_symbol":"MPZ","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:161274525-161279762","ensembl_id":"ENSG00000158887"}},"GRch38":{"90":{"location":"1:161304735-161309972","ensembl_id":"ENSG00000158887"}}},"hgnc_date_symbol_changed":"1990-04-27"},"entity_type":"gene","entity_name":"MPZ","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30239779","8816708","12845552","16488608","26310628","8630052"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Dejerine-Sottas disease, 145900 (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":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6601","gene_name":"DNA ligase 4","omim_gene":["601837"],"alias_name":["polydeoxyribonucleotide synthase [ATP] 4","polynucleotide ligase","sealase","DNA repair enzyme","DNA joinase"],"gene_symbol":"LIG4","hgnc_symbol":"LIG4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:108859787-108870716","ensembl_id":"ENSG00000174405"}},"GRch38":{"90":{"location":"13:108207439-108218368","ensembl_id":"ENSG00000174405"}}},"hgnc_date_symbol_changed":"1995-08-10"},"entity_type":"gene","entity_name":"LIG4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16088910","9823897","10911993","15333585","9809069","12023982","11040211","15175260","19451691","17554302"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["LIG4 syndrome, MIM# 606593","DNA ligase IV deficiency, MONDO:0011686"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["HL"],"biotype":"protein_coding","hgnc_id":"HGNC:5005","gene_name":"3-hydroxymethyl-3-methylglutaryl-CoA lyase","omim_gene":["613898"],"alias_name":["hydroxymethylglutaricaciduria"],"gene_symbol":"HMGCL","hgnc_symbol":"HMGCL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:24128375-24165110","ensembl_id":"ENSG00000117305"}},"GRch38":{"90":{"location":"1:23801885-23838620","ensembl_id":"ENSG00000117305"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"HMGCL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["HMG-CoA lyase deficiency, MIM# 246450"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3861,"hash_id":null,"name":"Prepair 1000+","disease_group":"Screening","disease_sub_group":"","description":"This panel was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.16","version_created":"2026-04-02T17:30:09.498472+11:00","relevant_disorders":[],"stats":{"number_of_genes":1389,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["OATP-C","LST-1","OATP1B1"],"biotype":"protein_coding","hgnc_id":"HGNC:10959","gene_name":"solute carrier organic anion transporter family member 1B1","omim_gene":["604843"],"alias_name":null,"gene_symbol":"SLCO1B1","hgnc_symbol":"SLCO1B1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21284136-21392180","ensembl_id":"ENSG00000134538"}},"GRch38":{"90":{"location":"12:21131202-21239246","ensembl_id":"ENSG00000134538"}}},"hgnc_date_symbol_changed":"2003-11-26"},"entity_type":"gene","entity_name":"SLCO1B1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Hyperbilirubinemia, Rotor type, digenic"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["fumarase"],"biotype":"protein_coding","hgnc_id":"HGNC:3700","gene_name":"fumarate hydratase","omim_gene":["136850"],"alias_name":null,"gene_symbol":"FH","hgnc_symbol":"FH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:241660903-241683061","ensembl_id":"ENSG00000091483"}},"GRch38":{"90":{"location":"1:241497603-241519761","ensembl_id":"ENSG00000091483"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"FH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","BabySeq Category C gene","BabySeq Category A gene"],"phenotypes":["Fumurase deficiency MIM# 606812"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable","metabolic"],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RH50A","CD241","SLC42A1"],"biotype":"protein_coding","hgnc_id":"HGNC:10006","gene_name":"Rh associated glycoprotein","omim_gene":["180297"],"alias_name":null,"gene_symbol":"RHAG","hgnc_symbol":"RHAG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:49572871-49604552","ensembl_id":"ENSG00000112077"}},"GRch38":{"90":{"location":"6:49605158-49636839","ensembl_id":"ENSG00000112077"}}},"hgnc_date_symbol_changed":"1993-11-30"},"entity_type":"gene","entity_name":"RHAG","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category C gene","Expert Review Red"],"phenotypes":["Rh-deficiency syndrome"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3931,"hash_id":null,"name":"Genomic newborn screening: BabyScreen+","disease_group":"Screening","disease_sub_group":"","description":"This panel has been curated for use by the BabyScreen+ newborn screening project.\r\n\r\nCriteria used in condition selection:\r\n-Analytical validity:the variant spectrum is currently reliably detectable by accredited WGS pipelines.\r\n-Clinical validity: the gene-disease relationship is well established (generally corresponding to Strong/Definitive by ClinGen criteria)\r\n-Disease onset: exclusively or predominantly in childhood (<5 years)\r\n-Disease severity: causing significant morbidity or mortality\r\n-Diseases with an effective treatment available that alters the natural history of disease (e.g. medication, dietary supplement, enzyme replacement therapy, transplantation, gene therapy)\r\n\r\nDesirable: non-genetic confirmatory testing available\r\n\r\nSources used in the development of this panel: gene lists developed by BabySeq, NC-Nexus, BeginNGS, BabyBeyond, Acute Care Additional Paediatric Findings, Guardian, Generation Study; additional resources rx-genes (PMID 33350578), TreatableID app (PMID 33845862), ClinGen Pediatric Actionability consensus assertions (definitive, strong and moderate; December 2022).\r\n\r\nVersion 1.0 of the panel was used in the BabyScreen+ study (PMID 38275146, 41068466)","status":"public","version":"1.148","version_created":"2026-03-31T15:17:11.094244+11:00","relevant_disorders":[],"stats":{"number_of_genes":1723,"number_of_strs":0,"number_of_regions":0},"types":[],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CD110","TPOR"],"biotype":"protein_coding","hgnc_id":"HGNC:7217","gene_name":"MPL proto-oncogene, thrombopoietin receptor","omim_gene":["159530"],"alias_name":null,"gene_symbol":"MPL","hgnc_symbol":"MPL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:43803478-43818443","ensembl_id":"ENSG00000117400"}},"GRch38":{"90":{"location":"1:43337849-43352772","ensembl_id":"ENSG00000117400"}}},"hgnc_date_symbol_changed":"1990-09-10"},"entity_type":"gene","entity_name":"MPL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17054430","16351641","11133753"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["MGC14993","MGC23778","PRO1992","dJ382I10.6","DALRD2"],"biotype":"protein_coding","hgnc_id":"HGNC:21406","gene_name":"arginyl-tRNA synthetase 2, mitochondrial","omim_gene":["611524"],"alias_name":["arginine tRNA ligase 2, mitochondrial (putative)"],"gene_symbol":"RARS2","hgnc_symbol":"RARS2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:88224096-88299721","ensembl_id":"ENSG00000146282"}},"GRch38":{"90":{"location":"6:87514378-87590003","ensembl_id":"ENSG00000146282"}}},"hgnc_date_symbol_changed":"2007-02-23"},"entity_type":"gene","entity_name":"RARS2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["38009286","29881806"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pontocerebellar hypoplasia, type 6, MIM#611523"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["VAKTI","LEKTI","LETKI","NETS","NS","FLJ21544","FLJ97536","FLJ97596","FLJ99794","DKFZp686K19184"],"biotype":"protein_coding","hgnc_id":"HGNC:15464","gene_name":"serine peptidase inhibitor, Kazal type 5","omim_gene":["605010"],"alias_name":["lymphoepithelial Kazal-type-related inhibitor"],"gene_symbol":"SPINK5","hgnc_symbol":"SPINK5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:147405246-147516852","ensembl_id":"ENSG00000133710"}},"GRch38":{"90":{"location":"5:148025683-148137289","ensembl_id":"ENSG00000133710"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"SPINK5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Netherton syndrome, MIM#256500"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["D22S676","D22S750","TC2"],"biotype":"protein_coding","hgnc_id":"HGNC:11653","gene_name":"transcobalamin 2","omim_gene":["613441"],"alias_name":["macrocytic anemia"],"gene_symbol":"TCN2","hgnc_symbol":"TCN2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:31002825-31023265","ensembl_id":"ENSG00000185339"}},"GRch38":{"90":{"location":"22:30606838-30627278","ensembl_id":"ENSG00000185339"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TCN2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["19373259"],"evidence":["Expert Review Green","Literature","Expert list"],"phenotypes":["Transcobalamin II deficiency, 275350"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4257,"hash_id":null,"name":"Vitamin metabolism disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"The gene panel contains genes that cause inborn errors of vitamin metabolism.\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.7","version_created":"2024-09-18T09:35:00.495806+10:00","relevant_disorders":["Abnormality of vitamin metabolism","HP:0100508"],"stats":{"number_of_genes":62,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["PE-2","PE2"],"biotype":"protein_coding","hgnc_id":"HGNC:3444","gene_name":"ETS2 repressor factor","omim_gene":["611888"],"alias_name":null,"gene_symbol":"ERF","hgnc_symbol":"ERF","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:42751724-42759309","ensembl_id":"ENSG00000105722"}},"GRch38":{"90":{"location":"19:42247572-42255157","ensembl_id":"ENSG00000105722"}}},"hgnc_date_symbol_changed":"1998-07-17"},"entity_type":"gene","entity_name":"ERF","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["36117209","35761471","35852485"],"evidence":["Expert Review Amber","Expert Review","Expert list"],"phenotypes":["Craniosynostosis 4, MIM# 600775"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":4290,"hash_id":null,"name":"Speech apraxia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Childhood apraxia of speech (CAS; synonymous with speech apraxia/dyspraxia or verbal apraxia/dyspraxia) is a non-progressive neurodevelopmental disorder with a primary presentation of speech planning and programming disorder.\r\n\r\nCAS involves difficulty producing sequences of sounds with accuracy and correct prosody, resulting in poor speech intelligibility. Individuals with CAS typically have very delayed development of first spoken words. Other common co-occurring features may include fine and gross motor impairment, language impairment, learning difficulties, intellectual disability, autism and attention deficit hyperactivity disorder. Other associated features may include hypotonia, seizures, and facial dysmorphism/dysmorphology.\r\n \r\nPMID: 38366112 summarises three gene discovery cohort studies of individuals with CAS. Diagnostic yield ranged between 26-42%.\r\n\r\nThe aetiology of CAS is complex. If an underlying monogenic condition is suspected, please also consider the Intellectual Disability, Genetic Epilepsy, Hereditary Spastic Paraplegia - paediatric, Dystonia and Ataxia panels among others, depending on the associated clinical features.\r\n\r\nWe would like to thank Angela Morgan, Michael Hildebrand, Thomas Scerri, David Amor and team for their contribution to the development of this panel.","status":"public","version":"1.28","version_created":"2026-03-06T16:38:48.591739+11:00","relevant_disorders":[],"stats":{"number_of_genes":35,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIWI","HIWI","CT80.1"],"biotype":"protein_coding","hgnc_id":"HGNC:9007","gene_name":"piwi like RNA-mediated gene silencing 1","omim_gene":["605571"],"alias_name":null,"gene_symbol":"PIWIL1","hgnc_symbol":"PIWIL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:130822432-130857182","ensembl_id":"ENSG00000125207"}},"GRch38":{"90":{"location":"12:130337887-130372637","ensembl_id":"ENSG00000125207"}}},"hgnc_date_symbol_changed":"2000-02-11"},"entity_type":"gene","entity_name":"PIWIL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41706354","39122675","37335463","36379263","33877510","28552346"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Infertility disorder, MONDO:0005047, PIWIL1-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["RLF","MGC119818","MGC119819"],"biotype":"protein_coding","hgnc_id":"HGNC:6086","gene_name":"insulin like 3","omim_gene":["146738"],"alias_name":["prepro-INSL3"],"gene_symbol":"INSL3","hgnc_symbol":"INSL3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:17927321-17932383","ensembl_id":"ENSG00000248099"}},"GRch38":{"90":{"location":"19:17816512-17821574","ensembl_id":"ENSG00000248099"}}},"hgnc_date_symbol_changed":"1993-11-02"},"entity_type":"gene","entity_name":"INSL3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12601553","12970298","11095425","41369823","37208861","33095795"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Cryptorchidism, MIM# 219050","Infertility disorder MONDO:0005047, INSL3-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":4455,"hash_id":null,"name":"Infertility and Recurrent Pregnancy Loss","disease_group":"","disease_sub_group":"","description":"Recurrent pregnancy loss (RPL) and infertility are genetically heterogeneous and overlapping conditions that contribute significantly to adverse reproductive outcomes. This panel has been developed to address the lack of a dedicated diagnostic gene panel specifically targeting recurrent pregnancy loss and/or infertility. This panel includes genes associated with a broad spectrum of male and female infertility phenotypes, as well as those implicated in recurrent pregnancy loss (RPL).\r\n\r\nFor male infertility, it covers genes involved in spermatogenic failure and fertilization defects. For female infertility, it includes genes associated with primary ovarian insufficiency/failure and ovarian dysgenesis. This panel also includes genes associated with infertility phenotypes that affect both sexes, such as hypogonadotropic hypogonadism, gonadal dysgenesis, Persistent Mullerian duct syndrome, and primary ciliary dyskinesia. Genes associated with RPL primarily involve in oocyte, zygote, and embryo maturation arrest (OZEMA), as well as defective implantation and placentation.\r\n\r\nSources used to generate this panel includes literature review and publicly available databases (e.g., OMIM, FeRGI database, Intolerome Gene List).\r\n\r\nPlease also consider the Fetal anomalies panel where appropriate, particularly in cases of pregnancy losses occurring beyond 20 weeks’ gestation.\r\n\r\nWe would like to thank Jasmine Chew (University of Western Australia), Prof Gina Ravenscroft (Harry Perkins Institute of Medical Research), Dr Harmony Clayton (PathWest Laboratory Medicine, Perth) and Audrey Rick (Harry Perkins Institute of Medical Research) for the development of this panel.","status":"public","version":"1.140","version_created":"2026-04-06T10:51:58.181866+10:00","relevant_disorders":[],"stats":{"number_of_genes":264,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null}]}