{"count":36035,"next":"https://panelapp-aus.org/api/v1/entities/?format=json&page=323","previous":"https://panelapp-aus.org/api/v1/entities/?format=json&page=321","results":[{"gene_data":{"alias":["FLJ90492","SMILE"],"biotype":"protein_coding","hgnc_id":"HGNC:26899","gene_name":"transmembrane and tetratricopeptide repeat containing 3","omim_gene":["617218"],"alias_name":null,"gene_symbol":"TMTC3","hgnc_symbol":"TMTC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:88536073-88593664","ensembl_id":"ENSG00000139324"}},"GRch38":{"90":{"location":"12:88142296-88199887","ensembl_id":"ENSG00000139324"}}},"hgnc_date_symbol_changed":"2006-01-06"},"entity_type":"gene","entity_name":"TMTC3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["27773428","28973161"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Lissencephaly 8 (MIM#617255)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":19,"hash_id":null,"name":"Periventricular Grey Matter Heterotopia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"Periventricular nodular heterotopia is a disorder of neuronal migration in which neurons fail to migrate appropriately from the ventricular zone to the cortex during development, resulting in the formation of nodular brain tissue lining the ventricles.\r\n\r\nThis panel was developed and used by the Australian Genomics Brain Malformations Flagship. 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Comparison undertaken with NHS GMS 'Hypogonadotropic hypogonadism' panel with all differences reviewed and reciprocal feedback provided to Genomics England 01/11/2023. Further round of comparison and discordance resolution undertaken 4/12/2024.","status":"public","version":"1.47","version_created":"2026-04-06T10:50:25.990411+10:00","relevant_disorders":["Abnormality of the genital system","HP:0000078"],"stats":{"number_of_genes":141,"number_of_strs":1,"number_of_regions":2},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["LIN41","LIN-41"],"biotype":"protein_coding","hgnc_id":"HGNC:32669","gene_name":"tripartite motif containing 71","omim_gene":null,"alias_name":null,"gene_symbol":"TRIM71","hgnc_symbol":"TRIM71","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:32859510-32939318","ensembl_id":"ENSG00000206557"}},"GRch38":{"90":{"location":"3:32818018-32897826","ensembl_id":"ENSG00000206557"}}},"hgnc_date_symbol_changed":"2006-03-30"},"entity_type":"gene","entity_name":"TRIM71","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 29983323","32168371","30975633"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital hydrocephalus 4 (MIM#618667)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":115,"hash_id":null,"name":"Hydrocephalus_Ventriculomegaly","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England 'Hydrocephalus' panel, with all discrepancies resolved and reciprocal feedback provided to Genomics England, 8/8/2020.","status":"public","version":"0.134","version_created":"2026-01-28T12:49:29.963583+11:00","relevant_disorders":["Hydrocephalus","HP:0000238; Ventriculomegaly","HP:0002119"],"stats":{"number_of_genes":101,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PMK","PMKA","HUMPMKI"],"biotype":"protein_coding","hgnc_id":"HGNC:9141","gene_name":"phosphomevalonate kinase","omim_gene":["607622"],"alias_name":null,"gene_symbol":"PMVK","hgnc_symbol":"PMVK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:154897210-154909467","ensembl_id":"ENSG00000163344"}},"GRch38":{"90":{"location":"1:154924734-154936991","ensembl_id":"ENSG00000163344"}}},"hgnc_date_symbol_changed":"1999-07-09"},"entity_type":"gene","entity_name":"PMVK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41240373","26202976"],"evidence":["Expert Review Green","Literature"],"phenotypes":["porokeratosis 1, Mibelli type MONDO:0008290"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":124,"hash_id":null,"name":"Ichthyosis and Porokeratosis","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS and RMH. It contains genes that cause non-syndromic and syndromic ichthyosis and porokeratosis.","status":"public","version":"1.25","version_created":"2026-03-19T12:26:58.874178+11:00","relevant_disorders":["Ichthyosis","HP:0008064;Porokeratosis","HP:0200044"],"stats":{"number_of_genes":65,"number_of_strs":0,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9369","gene_name":"DNA primase subunit 1","omim_gene":["176635"],"alias_name":null,"gene_symbol":"PRIM1","hgnc_symbol":"PRIM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57125380-57146157","ensembl_id":"ENSG00000198056"}},"GRch38":{"90":{"location":"12:56731596-56752373","ensembl_id":"ENSG00000198056"}}},"hgnc_date_symbol_changed":"1990-07-26"},"entity_type":"gene","entity_name":"PRIM1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["33060134"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":130,"hash_id":null,"name":"Lipodystrophy_Lipoatrophy","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.\r\n\r\nLipodystrophy syndromes comprise a heterogeneous group of disorders characterized by either generalized or partial lack of adipose tissue.\r\n\r\nLipodystrophy can be congenital or acquired. Individuals with partial lipodystrophy may exhibit excess adipose tissue accumulation in other areas of the body. Lipodystrophy syndromes usually manifest with several metabolic abnormalities associated with severe insulin resistance that include diabetes mellitus, hypertriglyceridaemia, and hepatic steatosis which can progress to steatohepatitis. Other common manifestations are acanthosis nigricans, polycystic ovarian syndrome (PCOS), and eruptive xanthomas.\r\n\r\nThis panel contains conditions associated with both isolated and syndromic lipodystrophy.","status":"public","version":"1.42","version_created":"2026-02-17T18:29:33.924527+11:00","relevant_disorders":["Lipodystrophy","HP:0009125"],"stats":{"number_of_genes":39,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["TRPML1","ML4","MLIV","MST080","MSTP080","TRPM-L1"],"biotype":"protein_coding","hgnc_id":"HGNC:13356","gene_name":"mucolipin 1","omim_gene":["605248"],"alias_name":null,"gene_symbol":"MCOLN1","hgnc_symbol":"MCOLN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7587512-7598895","ensembl_id":"ENSG00000090674"}},"GRch38":{"90":{"location":"19:7522626-7534009","ensembl_id":"ENSG00000090674"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"MCOLN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Victorian Clinical Genetics Services","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":135,"hash_id":null,"name":"Macrocephaly_Megalencephaly","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.161","version_created":"2026-01-12T09:38:37.890372+11:00","relevant_disorders":["Macrocephaly","HP:0000256; Megalencephaly","HP:0001355"],"stats":{"number_of_genes":151,"number_of_strs":0,"number_of_regions":3},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CX40"],"biotype":null,"hgnc_id":"HGNC:4279","gene_name":"gap junction protein alpha 5","omim_gene":["121013"],"alias_name":["connexin 40"],"gene_symbol":"GJA5","hgnc_symbol":"GJA5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:147228332-147245484","ensembl_id":"ENSG00000143140"}},"GRch38":{"90":{"location":"1:147756199-147773362","ensembl_id":"ENSG00000265107"}}},"hgnc_date_symbol_changed":"1991-07-11"},"entity_type":"gene","entity_name":"GJA5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["16790700","20818502","20650941","23348765"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Atrial fibrillation, familial, 11, OMIM# 614049"],"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":["DFFRY"],"biotype":"protein_coding","hgnc_id":"HGNC:12633","gene_name":"ubiquitin specific peptidase 9, Y-linked","omim_gene":["400005"],"alias_name":["fat facets-like homolog (Drosophila)"],"gene_symbol":"USP9Y","hgnc_symbol":"USP9Y","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"Y:14813160-14972764","ensembl_id":"ENSG00000114374"}},"GRch38":{"90":{"location":"Y:12701231-12860839","ensembl_id":"ENSG00000114374"}}},"hgnc_date_symbol_changed":"1999-02-01"},"entity_type":"gene","entity_name":"USP9Y","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["10581029","17213277","15509635","19737515"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure, Y-linked, 2, MIM#415000"],"mode_of_inheritance":"Other","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. 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":["FLJ33817","PPP1R166","CAMRQ2","SORF-2"],"biotype":"protein_coding","hgnc_id":"HGNC:26600","gene_name":"WD repeat domain 81","omim_gene":["614218"],"alias_name":["protein phosphatase 1, regulatory subunit 166"],"gene_symbol":"WDR81","hgnc_symbol":"WDR81","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1619817-1641893","ensembl_id":"ENSG00000167716"}},"GRch38":{"90":{"location":"17:1716523-1738599","ensembl_id":"ENSG00000167716"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"WDR81","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21885617","28556411","28969387"],"evidence":["Expert Review Red","Expert Review Red","Expert list","Expert Review Green","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185","Hydrocephalus, congenital, 3, with brain anomalies, 617967"],"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":["DKFZp686J0811"],"biotype":"protein_coding","hgnc_id":"HGNC:25396","gene_name":"FRAS1 related extracellular matrix protein 2","omim_gene":["608945"],"alias_name":null,"gene_symbol":"FREM2","hgnc_symbol":"FREM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:39261266-39460074","ensembl_id":"ENSG00000150893"}},"GRch38":{"90":{"location":"13:38687129-38887131","ensembl_id":"ENSG00000150893"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"FREM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15838507","18203166","29688405","33082983"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cryptophthalmos, unilateral or bilateral, isolated MIM#123570","Fraser syndrome 2 MIM#617666"],"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":["KIAA0246","STAB-1","FEEL-1","CLEVER-1","FELE-1","FEX1","SCARH2"],"biotype":"protein_coding","hgnc_id":"HGNC:18628","gene_name":"stabilin 1","omim_gene":["608560"],"alias_name":["MS-1 antigen","fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1","common lymphatic endothelial and vascular endothelial receptor-1"],"gene_symbol":"STAB1","hgnc_symbol":"STAB1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52529354-52558511","ensembl_id":"ENSG00000010327"}},"GRch38":{"90":{"location":"3:52495338-52524495","ensembl_id":"ENSG00000010327"}}},"hgnc_date_symbol_changed":"2002-09-11"},"entity_type":"gene","entity_name":"STAB1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["37490907","28052375"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Hyperferritinemia, MIM# 620729"],"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":["NF-ATC","NFATc","NFAT2"],"biotype":"protein_coding","hgnc_id":"HGNC:7775","gene_name":"nuclear factor of activated T-cells 1","omim_gene":["600489"],"alias_name":null,"gene_symbol":"NFATC1","hgnc_symbol":"NFATC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:77155856-77289325","ensembl_id":"ENSG00000131196"}},"GRch38":{"90":{"location":"18:79395856-79529325","ensembl_id":"ENSG00000131196"}}},"hgnc_date_symbol_changed":"1994-11-16"},"entity_type":"gene","entity_name":"NFATC1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["37249233"],"evidence":["Expert Review Red","ClinGen","Expert Review Amber","Literature"],"phenotypes":["Inborn error of immunity, MONDO:0003778, NFATC1-related","Combined Immune deficiency"],"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. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4733","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":["SUR2","CMD1O"],"biotype":"protein_coding","hgnc_id":"HGNC:60","gene_name":"ATP binding cassette subfamily C member 9","omim_gene":["601439"],"alias_name":["sulfonylurea receptor 2"],"gene_symbol":"ABCC9","hgnc_symbol":"ABCC9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:21950335-22094336","ensembl_id":"ENSG00000069431"}},"GRch38":{"90":{"location":"12:21797401-21942529","ensembl_id":"ENSG00000069431"}}},"hgnc_date_symbol_changed":"1999-10-26"},"entity_type":"gene","entity_name":"ABCC9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31575858","22610116","22608503"],"evidence":["ClinGen","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hypertrichotic osteochondrodysplasia, MIM# 239850","Cantu syndrome","Intellectual disability and myopathy syndrome, MIM# 619719"],"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":["NifS","IscS"],"biotype":"protein_coding","hgnc_id":"HGNC:15910","gene_name":"NFS1, cysteine desulfurase","omim_gene":["603485"],"alias_name":null,"gene_symbol":"NFS1","hgnc_symbol":"NFS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:34255977-34287281","ensembl_id":"ENSG00000244005"}},"GRch38":{"90":{"location":"20:35668055-35699359","ensembl_id":"ENSG00000244005"}}},"hgnc_date_symbol_changed":"2001-08-01"},"entity_type":"gene","entity_name":"NFS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24498631","33457206"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined oxidative phosphorylation deficiency 52, MIM#619386","Complex II/III deficiency","multisystem organ failure"],"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":["C2H2-171","TAZ-1","RP58"],"biotype":"protein_coding","hgnc_id":"HGNC:13030","gene_name":"zinc finger and BTB domain containing 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microcephaly is a significant feature, generally where reported >-3SD.\r\n\r\nThis panel has been compared against the Genomics England 'Severe microcephaly' panel V2.2 with all discrepancies resolved and reciprocal feedback provided to Genomics England, September 2020.","status":"public","version":"1.427","version_created":"2026-04-02T17:28:09.565635+11:00","relevant_disorders":["Microcephaly","HP:0000252"],"stats":{"number_of_genes":383,"number_of_strs":0,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["FAE"],"biotype":"protein_coding","hgnc_id":"HGNC:3586","gene_name":"Fanconi anemia complementation group 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and is maintained by VCGS.\r\n\r\nThis panel has been compared against the Genomics England PanelApp 'Radial Dysplasia' panel and all differences have been resolved, with reciprocal feedback provided to Genomics England.","status":"public","version":"1.21","version_created":"2026-01-15T11:51:47.687282+11:00","relevant_disorders":["Abnormality of radial ray","HP:0410049"],"stats":{"number_of_genes":62,"number_of_strs":1,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Talpid3","JBTS23"],"biotype":"protein_coding","hgnc_id":"HGNC:19960","gene_name":"KIAA0586","omim_gene":["610178"],"alias_name":null,"gene_symbol":"KIAA0586","hgnc_symbol":"KIAA0586","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:58894103-59015216","ensembl_id":"ENSG00000100578"}},"GRch38":{"90":{"location":"14:58427385-58551289","ensembl_id":"ENSG00000100578"}}},"hgnc_date_symbol_changed":"2003-11-21"},"entity_type":"gene","entity_name":"KIAA0586","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["26166481","26096313","29146704"],"evidence":["Expert Review Red","Literature","KidGen_CilioNephronop v38.1.0","Victorian Clinical Genetics Services"],"phenotypes":["Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546","Joubert syndrome 23, MIM# 616490"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":193,"hash_id":null,"name":"Renal Ciliopathies and Nephronophthisis","disease_group":"Renal and urinary tract disorders","disease_sub_group":"","description":"This panel was created by the KidGen consortium and is a consensus panel used by VCGS and KidGen","status":"public","version":"1.53","version_created":"2026-03-19T17:14:29.802874+11:00","relevant_disorders":["Abnormality of renal medullary morphology","HP:0025361; Renal cyst","HP:0000107"],"stats":{"number_of_genes":101,"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"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TRNS1"],"biotype":"Mt_tRNA","hgnc_id":"HGNC:7497","gene_name":"mitochondrially encoded tRNA serine 1 (UCN)","omim_gene":["590080"],"alias_name":null,"gene_symbol":"MT-TS1","hgnc_symbol":"MT-TS1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:7446-7514","ensembl_id":"ENSG00000210151"}},"GRch38":{"90":{"location":"MT:7446-7514","ensembl_id":"ENSG00000210151"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-TS1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["7669057","9778262","14605505","23696415","33279600","7581383"],"evidence":["Expert Review Green","Expert list","Expert list"],"phenotypes":["Mitochondrial disease (MONDO:0044970), MT-TS1-related"],"mode_of_inheritance":"MITOCHONDRIAL","tags":["mtDNA"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental 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However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2698","gene_name":"dihydrolipoamide branched chain transacylase E2","omim_gene":["248610"],"alias_name":["dihydrolipoyllysine-residue (2-methylpropanoyl)transferase","lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial"],"gene_symbol":"DBT","hgnc_symbol":"DBT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:100652475-100715390","ensembl_id":"ENSG00000137992"}},"GRch38":{"90":{"location":"1:100186919-100249834","ensembl_id":"ENSG00000137992"}}},"hgnc_date_symbol_changed":"1989-06-30"},"entity_type":"gene","entity_name":"DBT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Epilepsy Flagship"],"phenotypes":["Maple syrup urine disease, type II (MIM#248600)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":202,"hash_id":null,"name":"Genetic Epilepsy","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"The panel contains genes causing isolated genetic epilepsy as well as genes causing complex disorders where epilepsy is a prominent and/or common feature. However, if clinical features suggestive of a metabolic or other multi-system disorder are present, we recommend also applying the other clinically relevant panels (e.g. mitochondrial) for completeness.\r\n\r\nThis panel was used by the Australian Genomics Epilepsy Flagship and is a consensus panel used and maintained by VCGS and RMH. It is a consensus panel for the Gene-STEPs study (International Precision Child Health Partnership).\r\n\r\nThis panel has been compared with the Genomics England Genetic Epilepsy panel and all discrepancies have been resolved, with reciprocal reviews provided to Genomics England, Feb 2020.","status":"public","version":"1.408","version_created":"2026-04-02T11:46:13.244668+11:00","relevant_disorders":["Seizure","HP:0001250; Epileptic encephalopathy","HP:0200134; EEG abnormality","HP:0002353"],"stats":{"number_of_genes":1154,"number_of_strs":9,"number_of_regions":13},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["CGI-203","ISD11"],"biotype":"protein_coding","hgnc_id":"HGNC:21365","gene_name":"LYR motif containing 4","omim_gene":["613311"],"alias_name":null,"gene_symbol":"LYRM4","hgnc_symbol":"LYRM4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:5102827-5261172","ensembl_id":"ENSG00000214113"}},"GRch38":{"90":{"location":"6:5102593-5260939","ensembl_id":"ENSG00000214113"}}},"hgnc_date_symbol_changed":"2006-09-19"},"entity_type":"gene","entity_name":"LYRM4","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["23814038","31497476"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services","Australian Genomics Health Alliance Mitochondrial Flagship"],"phenotypes":["Combined oxidative phosphorylation deficiency 19, MIM# 615595"],"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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Including the following:\r\n- Movement disorders where chorea is a prominent feature\r\n- Isolated dystonia is classified as dystonia as the only motor feature except for possible tremor\r\n- Combined dystonia is classified as dystonia with another movement disorder\r\n- Complex dystonia, where dystonia and overlapping hyperkinetic movement disorders (e.g. chorea, myoclonus) co-occur with other neurologic or systemic manifestations, including developmental disability. Dystonia is not necessarily the most prominent disease manifestation and may even be an inconsistent feature.","status":"public","version":"0.344","version_created":"2026-04-06T11:07:45.734922+10:00","relevant_disorders":["Dystonia","HP:0001332; Chorea","HP:0002072"],"stats":{"number_of_genes":198,"number_of_strs":9,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6817","gene_name":"mal, T-cell differentiation protein","omim_gene":["188860"],"alias_name":["MyD88-adapter-like"],"gene_symbol":"MAL","hgnc_symbol":"MAL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:95691422-95719737","ensembl_id":"ENSG00000172005"}},"GRch38":{"90":{"location":"2:95025677-95053996","ensembl_id":"ENSG00000172005"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MAL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["35217805"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Leukodystrophy, hypomyelinating, 28, MIM#  620978"],"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":["HHT2","ALK1","HHT"],"biotype":"protein_coding","hgnc_id":"HGNC:175","gene_name":"activin A receptor like type 1","omim_gene":["601284"],"alias_name":null,"gene_symbol":"ACVRL1","hgnc_symbol":"ACVRL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:52300692-52317145","ensembl_id":"ENSG00000139567"}},"GRch38":{"90":{"location":"12:51906908-51923361","ensembl_id":"ENSG00000139567"}}},"hgnc_date_symbol_changed":"1994-12-12"},"entity_type":"gene","entity_name":"ACVRL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16542389"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["cerebral pulmonary arteriovenous malformation","pulmonary arteriovenous malformation","hepatic arteriovenous malformation","epistaxis","pulmonary arterial hypertension","Telangiectasia, hereditary hemorrhagic, type 2 600376","telangiectasia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":300,"hash_id":null,"name":"Vascular Malformations_Germline","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"This panel contains genes that cause Mendelian vascular malformation disorders, particularly those presenting with skin lesions. 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This gene panel is maintained by the Royal Melbourne Hospital and is a consensus panel used by VCGS.\r\n\r\nIf a sample of affected tissue is being tested, please use the Vascular Malformations_Somatic panel.","status":"public","version":"1.13","version_created":"2026-01-24T18:03:26.952041+11:00","relevant_disorders":["Abnormal vascular morphology HP:0025015"],"stats":{"number_of_genes":42,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2678","gene_name":"aspartyl-tRNA synthetase","omim_gene":["603084"],"alias_name":["aspartate tRNA ligase 1, cytoplasmic"],"gene_symbol":"DARS","hgnc_symbol":"DARS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:136664247-136743670","ensembl_id":"ENSG00000115866"}},"GRch38":{"90":{"location":"2:135906677-135986100","ensembl_id":"ENSG00000115866"}}},"hgnc_date_symbol_changed":"1998-04-22"},"entity_type":"gene","entity_name":"DARS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["25527264","23643384"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Hypomyelination with brainstem and spinal cord involvement and leg spasticity, MIM# 615281"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":317,"hash_id":null,"name":"Hereditary Spastic Paraplegia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel contains genes that cause both isolated and complicated hereditary spastic paraplegia. The panel was created by merging the HSP panels created by RMH and VCGS, and is a consensus panel used by both.","status":"public","version":"1.149","version_created":"2026-03-19T11:56:36.708923+11:00","relevant_disorders":["Spasticity","HP:0001257"],"stats":{"number_of_genes":176,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["VAMP-1"],"biotype":"protein_coding","hgnc_id":"HGNC:12642","gene_name":"vesicle associated membrane protein 1","omim_gene":["185880"],"alias_name":null,"gene_symbol":"VAMP1","hgnc_symbol":"VAMP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:6571403-6580153","ensembl_id":"ENSG00000139190"}},"GRch38":{"90":{"location":"12:6462237-6470987","ensembl_id":"ENSG00000139190"}}},"hgnc_date_symbol_changed":"1990-03-14"},"entity_type":"gene","entity_name":"VAMP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28168212","28253535","28600779","17102983"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["presynaptic CMS","Myasthenic syndrome, congenital, 25, MIM# 618323"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3078,"hash_id":null,"name":"Congenital Myasthenia","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was created by merging the Congenital Myasthenia panels developed by the Royal Melbourne Hospital and by the Victorian Clinical Genetics Services.\r\n\r\nThis panel has been compared against the Genomics England 'Congenital myasthenic syndrome' panel V2.2, with all discrepancies resolved and reciprocal provided to Genomics England.","status":"public","version":"1.20","version_created":"2026-01-02T17:01:50.322172+11:00","relevant_disorders":["Fatiguable weakness HP:0003473;Hypotonia HP:0001252"],"stats":{"number_of_genes":37,"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":["Nav1.9","NaN","SNS-2"],"biotype":"protein_coding","hgnc_id":"HGNC:10583","gene_name":"sodium voltage-gated channel alpha subunit 11","omim_gene":["604385"],"alias_name":null,"gene_symbol":"SCN11A","hgnc_symbol":"SCN11A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:38887260-38992052","ensembl_id":"ENSG00000168356"}},"GRch38":{"90":{"location":"3:38845769-38950561","ensembl_id":"ENSG00000168356"}}},"hgnc_date_symbol_changed":"1998-11-06"},"entity_type":"gene","entity_name":"SCN11A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27503742","25118027"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Neuropathy, hereditary sensory and autonomic, type VII, MIM#\t615548"],"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":[]},{"gene_data":{"alias":["KIAA0373","FLJ13615","3H11Ag","rd16","NPHP6","JBTS5","SLSN6","LCA10","MKS4","BBS14","CT87","POC3"],"biotype":"protein_coding","hgnc_id":"HGNC:29021","gene_name":"centrosomal protein 290","omim_gene":["610142"],"alias_name":["Joubert syndrome 5","nephrocystin-6","cancer/testis antigen 87","POC3 centriolar protein homolog (Chlamydomonas)","Meckel syndrome, type 4","Bardet-Biedl syndrome 14"],"gene_symbol":"CEP290","hgnc_symbol":"CEP290","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:88442793-88535993","ensembl_id":"ENSG00000198707"}},"GRch38":{"90":{"location":"12:88049014-88142216","ensembl_id":"ENSG00000198707"}}},"hgnc_date_symbol_changed":"2006-02-20"},"entity_type":"gene","entity_name":"CEP290","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Joubert syndrome 5, 610188 (3)"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:6833","gene_name":"monoamine oxidase A","omim_gene":["309850"],"alias_name":null,"gene_symbol":"MAOA","hgnc_symbol":"MAOA","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:43515467-43606068","ensembl_id":"ENSG00000189221"}},"GRch38":{"90":{"location":"X:43654907-43746824","ensembl_id":"ENSG00000189221"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"MAOA","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Brunner syndrome, 300615 (3)"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":3139,"hash_id":null,"name":"Mackenzie's Mission_Reproductive Carrier Screening","disease_group":"Screening","disease_sub_group":"","description":"This panel has been developed by Mackenzie's Mission, a reproductive carrier screening project that will offer testing to 10,000 couples.\r\n\r\nCriteria used to select genes are: the condition should be life-limiting or disabling, with childhood onset, such that couples would be likely to take steps to avoid having an affected child; and/or be one for which early diagnosis and intervention would substantially change outcome (PMID: 32678339).\r\n\r\nThe panel is managed by Mackenzie's Mission. Please note this panel is no longer in use but represents a historical record of the gene list used by Mackenzie's Mission.","status":"public","version":"0.111","version_created":"2025-11-21T16:50:54.555702+11:00","relevant_disorders":[],"stats":{"number_of_genes":1335,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"},{"name":"PathWest","slug":"pathwest","description":"PathWest"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:9577","gene_name":"phosphoserine phosphatase","omim_gene":["172480"],"alias_name":null,"gene_symbol":"PSPH","hgnc_symbol":"PSPH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:56078744-56119297","ensembl_id":"ENSG00000146733"}},"GRch38":{"90":{"location":"7:56011051-56051604","ensembl_id":"ENSG00000146733"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PSPH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Phosphoserine phosphatase deficiency, 614023 (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":["hdhc11","DHC2","DHC1b","DYH1B"],"biotype":"protein_coding","hgnc_id":"HGNC:2962","gene_name":"dynein cytoplasmic 2 heavy chain 1","omim_gene":["603297"],"alias_name":null,"gene_symbol":"DYNC2H1","hgnc_symbol":"DYNC2H1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:102980160-103350591","ensembl_id":"ENSG00000187240"}},"GRch38":{"90":{"location":"11:103109431-103479863","ensembl_id":"ENSG00000187240"}}},"hgnc_date_symbol_changed":"2005-11-24"},"entity_type":"gene","entity_name":"DYNC2H1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (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":["nicein-100kDa","kalinin-105kDa","BM600-100kDa"],"biotype":"protein_coding","hgnc_id":"HGNC:6493","gene_name":"laminin subunit gamma 2","omim_gene":["150292"],"alias_name":null,"gene_symbol":"LAMC2","hgnc_symbol":"LAMC2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:183155373-183214035","ensembl_id":"ENSG00000058085"}},"GRch38":{"90":{"location":"1:183186238-183244900","ensembl_id":"ENSG00000058085"}}},"hgnc_date_symbol_changed":"1993-07-13"},"entity_type":"gene","entity_name":"LAMC2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Epidermolysis bullosa, junctional, Herlitz type, 226700 (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":["FLJ12618"],"biotype":"protein_coding","hgnc_id":"HGNC:20499","gene_name":"L-2-hydroxyglutarate dehydrogenase","omim_gene":["609584"],"alias_name":["2-hydroxyglutarate dehydrogenase"],"gene_symbol":"L2HGDH","hgnc_symbol":"L2HGDH","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:50704281-50779266","ensembl_id":"ENSG00000087299"}},"GRch38":{"90":{"location":"14:50237563-50312548","ensembl_id":"ENSG00000087299"}}},"hgnc_date_symbol_changed":"2005-05-25"},"entity_type":"gene","entity_name":"L2HGDH","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["L-2-hydroxyglutaric aciduria, 236792 (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":["OPN1MW1","COD5"],"biotype":null,"hgnc_id":"HGNC:4206","gene_name":"opsin 1, medium wave sensitive","omim_gene":["300821"],"alias_name":["cone dystrophy 5 (X-linked)"],"gene_symbol":"OPN1MW","hgnc_symbol":"OPN1MW","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:153448107-153461633","ensembl_id":"ENSG00000147380"}},"GRch38":{"90":{"location":"X:154182596-154196135","ensembl_id":"ENSG00000268221"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"OPN1MW","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30679166","25168334","32860923"],"evidence":["Expert Review Green","Royal Melbourne Hospital"],"phenotypes":["Blue cone monochromacy MIM#303700","Colourblindness, deutan MIM#303800"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["SV/CNV"],"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":["CCNC1","CCNCa","CNG3"],"biotype":"protein_coding","hgnc_id":"HGNC:2150","gene_name":"cyclic nucleotide gated channel alpha 3","omim_gene":["600053"],"alias_name":null,"gene_symbol":"CNGA3","hgnc_symbol":"CNGA3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:98962618-99015064","ensembl_id":"ENSG00000144191"}},"GRch38":{"90":{"location":"2:98346155-98398601","ensembl_id":"ENSG00000144191"}}},"hgnc_date_symbol_changed":"1994-12-20"},"entity_type":"gene","entity_name":"CNGA3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["9662398","11536077","17265047"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Achromatopsia 2 MIM#216900"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3149,"hash_id":null,"name":"Achromatopsia","disease_group":"Ophthalmological disorders","disease_sub_group":"","description":"This panel contains genes that cause achromatopsia, a condition characterised by a partial or total absence of colour vision, along with additional visual problems. This panel also contains genes that cause bradyopsia.","status":"public","version":"1.6","version_created":"2026-03-16T10:52:20.739036+11:00","relevant_disorders":["Achromatopsia","HP:0011516"],"stats":{"number_of_genes":8,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["EIF2Bepsilon","EIF-2B"],"biotype":"protein_coding","hgnc_id":"HGNC:3261","gene_name":"eukaryotic translation initiation factor 2B subunit epsilon","omim_gene":["603945"],"alias_name":null,"gene_symbol":"EIF2B5","hgnc_symbol":"EIF2B5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:183852826-184402546","ensembl_id":"ENSG00000145191"}},"GRch38":{"90":{"location":"3:184135038-184145311","ensembl_id":"ENSG00000145191"}}},"hgnc_date_symbol_changed":"1998-10-16"},"entity_type":"gene","entity_name":"EIF2B5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Royal Melbourne Hospital","Expert list"],"phenotypes":["Ovarioleukodystrophy 603896"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","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":["ZNEUROK1","NKB"],"biotype":"protein_coding","hgnc_id":"HGNC:11521","gene_name":"tachykinin 3","omim_gene":["162330"],"alias_name":["preprotachykinin-B"],"gene_symbol":"TAC3","hgnc_symbol":"TAC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:57403784-57422667","ensembl_id":"ENSG00000166863"}},"GRch38":{"90":{"location":"12:57010000-57028883","ensembl_id":"ENSG00000166863"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"TAC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20332248, 20194706, 34403359, 19079066"],"evidence":["Expert List","Expert Review Green"],"phenotypes":["Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3166,"hash_id":null,"name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","disease_group":"Endocrine disorders","disease_sub_group":"Gonadal and sex development disorders","description":"This panel contains genes that cause non-syndromic and syndromic amenorrhoea, and ovarian insufficiency/failure. It was developed by RMH and Genetic Health QLD. It is a consensus panel used by VCGS.\r\n\r\nIt has been compared against the Genomics England PanelApp 'Primary ovarian insufficiency' panel V1.69, with all discrepancies reviewed and resolved (October 2025). \r\n\r\nWith early onset premature ovarian insufficiency, the following should be considered:\r\n• X chromosome abnormality such as Turner syndrome\r\n• Presence of FMR1 premutation\r\n• Iatrogenic cause (bilateral oophorectomy, chemotherapy, radiotherapy or any other iatrogenic cause)\r\n• Presence of thyroid or adrenal auto-antibodies\r\n\r\nTesting for fragile X premutation and chromosome abnormalities are strongly recommended prior to genomic testing.\r\n\r\nThis panel should be used for individuals with raised FSH. If FSH is low, the Hypogonadotropic hypogonadism panel should be used.\r\n\r\nPlease also consider the Differences of Sex Development panel where appropriate depending on clinical features.","status":"public","version":"0.410","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:8905","gene_name":"phosphoglucomutase 1","omim_gene":["171900"],"alias_name":null,"gene_symbol":"PGM1","hgnc_symbol":"PGM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:64058947-64125916","ensembl_id":"ENSG00000079739"}},"GRch38":{"90":{"location":"1:63593276-63660245","ensembl_id":"ENSG00000079739"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"PGM1","confidence_level":"3","penetrance":"Complete","mode_of_pathogenicity":null,"publications":["31563034","26303607","24878975","27206562","29858906","32681750"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Congenital disorder of glycosylation, type It, MIM#\t614921","Dilated cardiomyopathy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3270,"hash_id":null,"name":"Cardiomyopathy_Paediatric","disease_group":"Cardiovascular disorders","disease_sub_group":"","description":"With thanks to Genomics England PanelApp for the original design of this panel.\r\n\r\nThis panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions. It is maintained by VCGS.","status":"public","version":"0.229","version_created":"2026-03-31T18:53:53.165018+11:00","relevant_disorders":["Cardiomyopathy","HP:0001638;Abnormality of the myocardium","HP:0001637"],"stats":{"number_of_genes":252,"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":["L5","PPP1R135"],"biotype":"protein_coding","hgnc_id":"HGNC:10360","gene_name":"ribosomal protein L5","omim_gene":["603634"],"alias_name":["protein phosphatase 1, regulatory subunit 135"],"gene_symbol":"RPL5","hgnc_symbol":"RPL5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:93297582-93307481","ensembl_id":"ENSG00000122406"}},"GRch38":{"90":{"location":"1:92832025-92841924","ensembl_id":"ENSG00000122406"}}},"hgnc_date_symbol_changed":"1995-09-08"},"entity_type":"gene","entity_name":"RPL5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Diamond-Blackfan anemia"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["RP39"],"biotype":"protein_coding","hgnc_id":"HGNC:12601","gene_name":"usherin","omim_gene":["608400"],"alias_name":null,"gene_symbol":"USH2A","hgnc_symbol":"USH2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:215796236-216596738","ensembl_id":"ENSG00000042781"}},"GRch38":{"90":{"location":"1:215622894-216423396","ensembl_id":"ENSG00000042781"}}},"hgnc_date_symbol_changed":"1990-03-06"},"entity_type":"gene","entity_name":"USH2A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Usher syndrome 2"],"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":["SRYP","NEM8"],"biotype":"protein_coding","hgnc_id":"HGNC:30372","gene_name":"kelch like family member 40","omim_gene":["615340"],"alias_name":["sarcosynapsin","nemaline myopathy type 8"],"gene_symbol":"KLHL40","hgnc_symbol":"KLHL40","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:42727011-42734036","ensembl_id":"ENSG00000157119"}},"GRch38":{"90":{"location":"3:42685519-42692544","ensembl_id":"ENSG00000157119"}}},"hgnc_date_symbol_changed":"2013-01-08"},"entity_type":"gene","entity_name":"KLHL40","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Nemaline myopathy"],"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":["PCN","PLTN"],"biotype":"protein_coding","hgnc_id":"HGNC:9069","gene_name":"plectin","omim_gene":["601282"],"alias_name":null,"gene_symbol":"PLEC","hgnc_symbol":"PLEC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:144989321-145050902","ensembl_id":"ENSG00000178209"}},"GRch38":{"90":{"location":"8:143915147-143976734","ensembl_id":"ENSG00000178209"}}},"hgnc_date_symbol_changed":"2010-02-04"},"entity_type":"gene","entity_name":"PLEC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["BabySeq Category A gene","Expert Review Green"],"phenotypes":["Muscular dystrophy","Epidermolysis bullosa simplex"],"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":["NAD6","ND6"],"biotype":"protein_coding","hgnc_id":"HGNC:7462","gene_name":"mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6","omim_gene":["516006"],"alias_name":["complex I ND6 subunit","NADH-ubiquinone oxidoreductase chain 6"],"gene_symbol":"MT-ND6","hgnc_symbol":"MT-ND6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"MT:14149-14673","ensembl_id":"ENSG00000198695"}},"GRch38":{"90":{"location":"MT:14149-14673","ensembl_id":"ENSG00000198695"}}},"hgnc_date_symbol_changed":"2005-02-16"},"entity_type":"gene","entity_name":"MT-ND6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Leber hereditary optic neuropathy"],"mode_of_inheritance":"MITOCHONDRIAL","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:10606","gene_name":"sterol carrier protein 2","omim_gene":["184755"],"alias_name":null,"gene_symbol":"SCP2","hgnc_symbol":"SCP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:53392901-53517375","ensembl_id":"ENSG00000116171"}},"GRch38":{"90":{"location":"1:52927229-53051703","ensembl_id":"ENSG00000116171"}}},"hgnc_date_symbol_changed":"1991-07-24"},"entity_type":"gene","entity_name":"SCP2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Leukoencephalopathy - dystonia - motor neuropathy"],"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":["DFNA4B"],"biotype":"protein_coding","hgnc_id":"HGNC:31948","gene_name":"carcinoembryonic antigen related cell adhesion molecule 16","omim_gene":["614591"],"alias_name":null,"gene_symbol":"CEACAM16","hgnc_symbol":"CEACAM16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:45202421-45213986","ensembl_id":"ENSG00000213892"}},"GRch38":{"90":{"location":"19:44699151-44710714","ensembl_id":"ENSG00000213892"}}},"hgnc_date_symbol_changed":"2005-07-25"},"entity_type":"gene","entity_name":"CEACAM16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category C gene"],"phenotypes":["Hearing loss, autosomal dominant"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["TACIP1","LQT12"],"biotype":"protein_coding","hgnc_id":"HGNC:11167","gene_name":"syntrophin alpha 1","omim_gene":["601017"],"alias_name":["pro-TGF-alpha cytoplasmic domain-interacting protein 1","dystrophin-associated protein A1, 59kDa, acidic component"],"gene_symbol":"SNTA1","hgnc_symbol":"SNTA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31995761-32031698","ensembl_id":"ENSG00000101400"}},"GRch38":{"90":{"location":"20:33407955-33443892","ensembl_id":"ENSG00000101400"}}},"hgnc_date_symbol_changed":"1994-12-14"},"entity_type":"gene","entity_name":"SNTA1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","BabySeq Category B gene"],"phenotypes":["Long QT syndrome"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3302,"hash_id":null,"name":"Additional findings_Paediatric","disease_group":"Screening","disease_sub_group":"","description":"This panel is for use by the Acute Care Genomics flagship, Additional Findings sub-study.\r\n\r\nIt is based on the newborn screening list devised by the BabySeq project (PMID: 28079900):\r\nCategory A genes have been annotated Green: high penetrance childhood onset disorders, definitive evidence for gene-disease association\r\nCategory B genes have been annotated Amber: moderate penetrance/evidence, but actionable in childhood\r\nCategory C genes have been annotated Red: limited gene-disease association. These genes are not analysed.\r\n\r\nThe panel also incorporates the Paediatric Additional Findings Treatable and Untreatable panels developed by Melbourne Genomic Health Alliance for the BabyBeyond project (PMID: 31974413), and the panel used by the NC Nexus study (PMID:30851990).","status":"public","version":"0.280","version_created":"2026-01-16T11:59:53.863455+11:00","relevant_disorders":[],"stats":{"number_of_genes":1425,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Australian Genomics","slug":"australian-genomics","description":"Panel used by Australian Genomics project."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ21816","FANCN"],"biotype":"protein_coding","hgnc_id":"HGNC:26144","gene_name":"partner and localizer of BRCA2","omim_gene":["610355"],"alias_name":["Fanconi anemia, complementation group N"],"gene_symbol":"PALB2","hgnc_symbol":"PALB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:23614488-23652631","ensembl_id":"ENSG00000083093"}},"GRch38":{"90":{"location":"16:23603160-23641310","ensembl_id":"ENSG00000083093"}}},"hgnc_date_symbol_changed":"2007-01-15"},"entity_type":"gene","entity_name":"PALB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["NSW Health Pathology","Expert Review Green"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":[],"panel":{"id":3437,"hash_id":null,"name":"Incidentalome_PREGEN_DRAFT","disease_group":"","disease_sub_group":"","description":"Imported to facilitate update work. Do not use while labeled as DRAFT","status":"public","version":"0.43","version_created":"2021-01-20T16:42:09.286633+11:00","relevant_disorders":[],"stats":{"number_of_genes":173,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"New South Wales Health Pathology","slug":"new-south-wales-health-pathology","description":"New South Wales Health Pathology"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["PIG2","TP53I2"],"biotype":"protein_coding","hgnc_id":"HGNC:4136","gene_name":"guanidinoacetate N-methyltransferase","omim_gene":["601240"],"alias_name":null,"gene_symbol":"GAMT","hgnc_symbol":"GAMT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:1397091-1401569","ensembl_id":"ENSG00000130005"}},"GRch38":{"90":{"location":"19:1397026-1401570","ensembl_id":"ENSG00000130005"}}},"hgnc_date_symbol_changed":"1996-07-19"},"entity_type":"gene","entity_name":"GAMT","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["27604308","8651275"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Cerebral creatine deficiency syndrome 2 MIM#612736","Disorders of creatinine metabolism"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:4341","gene_name":"glutamate-ammonia ligase","omim_gene":["138290"],"alias_name":["glutamine synthetase"],"gene_symbol":"GLUL","hgnc_symbol":"GLUL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:182350839-182361341","ensembl_id":"ENSG00000135821"}},"GRch38":{"90":{"location":"1:182381704-182392206","ensembl_id":"ENSG00000135821"}}},"hgnc_date_symbol_changed":"1988-11-30"},"entity_type":"gene","entity_name":"GLUL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["16267323","21353613","33150193"],"evidence":["Expert Review Green","NHS GMS"],"phenotypes":["Glutamine deficiency, congenital MIM#610015","Developmental and epileptic encephalopathy 116, MIM# 620806"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3468,"hash_id":null,"name":"Miscellaneous Metabolic Disorders","disease_group":"Metabolic disorders","disease_sub_group":"","description":"This panel contains genes that cause miscellaneous metabolic disorders, that are not present on any of the more specific metabolic disorders panels (see the Metabolic Disorders Superpanel for the full list of panels). It contains, but is not limited to, the following groups of conditions:\r\n-Disorders of purine and pyrimidine metabolism\r\n-Organic acidurias, and other disorders of amino acid and peptide metabolism\r\n-Disorders of bile acid metabolism and transport, and other disorders of the metabolism of sterols\r\n-Disorders of nucleotide metabolism\r\n-Disorders of glucose transport, and other disorders of carbohydrate metabolism (excluding glycogen storage disorders)\r\n-Disorders of zinc and manganese metabolism\r\n-Disorders of vitamins and cofactors\r\n\r\nThis panel is a component of the Metabolic Disorders Superpanel.","status":"public","version":"1.60","version_created":"2026-01-15T15:39:27.439934+11:00","relevant_disorders":[],"stats":{"number_of_genes":149,"number_of_strs":1,"number_of_regions":0},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["16E1BP"],"biotype":"protein_coding","hgnc_id":"HGNC:12307","gene_name":"thyroid hormone receptor interactor 13","omim_gene":["604507"],"alias_name":["thyroid receptor interacting protein 13"],"gene_symbol":"TRIP13","hgnc_symbol":"TRIP13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:892758-919472","ensembl_id":"ENSG00000071539"}},"GRch38":{"90":{"location":"5:892643-919357","ensembl_id":"ENSG00000071539"}}},"hgnc_date_symbol_changed":"2000-01-04"},"entity_type":"gene","entity_name":"TRIP13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["28553959"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Mosaic variegated aneuploidy syndrome 3, MIM# 617598"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"panel":{"id":3631,"hash_id":null,"name":"Growth failure","disease_group":"","disease_sub_group":"","description":"This panel contains genes associated with growth failure in infancy/early childhood, either isolated or as part of another disorder.\r\n\r\nConsider applying this panel in individuals with:\r\n -Height Standard Deviation Score (SDS) <-3 (very significant short stature - well below the 0.4th centile)\r\nAND at least one of:\r\n- History of small for gestational age (birth weight and/or length <-2SDS)\r\n- Body disproportion, e.g. discrepancy between stature and head size\r\n- Dysmorphic features and congenital anomalies\r\n- Abnormalities in the GH-IGF axis (evidence of GH insensitivity or deficiency) and/or other pituitary hormonal deficiencies\r\n- Family history of significant short stature (1st and 2nd degree relatives) and/or consanguinity\r\n\r\nPrior to genomic testing consider:\r\n-Chromosomal microarray analysis (e.g. Turner syndrome)\r\n-Methylation analysis for Russell-Silver syndrome and Temple syndrome\r\n-Skeletal survey\r\n\r\nAcquired causes of short stature are relatively common.\r\n\r\nDepending on the specific clinical features present, consider applying the Skeletal dysplasia, Intellectual Disability, and/or Pituitary Hormone deficiency panels.\r\n\r\nWith thanks to Genomics England for the original design of this panel.","status":"public","version":"1.102","version_created":"2026-04-01T10:17:12.005431+11:00","relevant_disorders":["Failure to thrive","HP:0001508; Growth delay","HP:0001510"],"stats":{"number_of_genes":204,"number_of_strs":0,"number_of_regions":4},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Genetic Health Queensland","slug":"genetic-health-queensland","description":"Panel used by GHQ."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:7866","gene_name":"noggin","omim_gene":["602991"],"alias_name":null,"gene_symbol":"NOG","hgnc_symbol":"NOG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:54671060-54672951","ensembl_id":"ENSG00000183691"}},"GRch38":{"90":{"location":"17:56593699-56595590","ensembl_id":"ENSG00000183691"}}},"hgnc_date_symbol_changed":"1999-03-24"},"entity_type":"gene","entity_name":"NOG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert list"],"phenotypes":["NOG-related symphalangism spectrum disorder MONDO:0100521"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Cav1.2","CACH2","CACN2","TS","LQT8"],"biotype":"protein_coding","hgnc_id":"HGNC:1390","gene_name":"calcium voltage-gated channel subunit alpha1 C","omim_gene":["114205"],"alias_name":null,"gene_symbol":"CACNA1C","hgnc_symbol":"CACNA1C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:2079952-2802108","ensembl_id":"ENSG00000151067"}},"GRch38":{"90":{"location":"12:1970786-2697950","ensembl_id":"ENSG00000151067"}}},"hgnc_date_symbol_changed":"1991-01-30"},"entity_type":"gene","entity_name":"CACNA1C","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Timothy syndrome MIM#601005"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":3729,"hash_id":null,"name":"Hand and foot malformations","disease_group":"Dysmorphic and congenital abnormality syndromes","disease_sub_group":"","description":"This panel contains non-syndromic and syndromic causes of hand and foot malformations, including: brachydactyly, syndactyly, clinodactyly, ectrodactyly, and oligodactyly. Genes that cause polydactyly and synpolydactyly are excluded and can be found on the Polydactyly panel.","status":"public","version":"0.89","version_created":"2026-04-07T13:49:34.993963+10:00","relevant_disorders":["Abnormal hand morphology","HP:0005922; Abnormal foot morphology","HP:0001760"],"stats":{"number_of_genes":101,"number_of_strs":1,"number_of_regions":5},"types":[{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FLJ12042","MESRGP","BOR","DasraB"],"biotype":"protein_coding","hgnc_id":"HGNC:14629","gene_name":"cell division cycle associated 8","omim_gene":["609977"],"alias_name":["borealin"],"gene_symbol":"CDCA8","hgnc_symbol":"CDCA8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:38158090-38175391","ensembl_id":"ENSG00000134690"}},"GRch38":{"90":{"location":"1:37692418-37709719","ensembl_id":"ENSG00000134690"}}},"hgnc_date_symbol_changed":"2002-04-03"},"entity_type":"gene","entity_name":"CDCA8","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28025328","29546359"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital hypothyroidism, thyroid dysgenesis, no OMIM #"],"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":["CGI-58","NCIE2"],"biotype":"protein_coding","hgnc_id":"HGNC:21396","gene_name":"abhydrolase domain containing 5","omim_gene":["604780"],"alias_name":null,"gene_symbol":"ABHD5","hgnc_symbol":"ABHD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:43731605-43775863","ensembl_id":"ENSG00000011198"}},"GRch38":{"90":{"location":"3:43690113-43734371","ensembl_id":"ENSG00000011198"}}},"hgnc_date_symbol_changed":"2003-06-16"},"entity_type":"gene","entity_name":"ABHD5","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["30795549"],"evidence":["Expert Review Amber","Genomics England PanelApp"],"phenotypes":["Chanarin-Dorfman syndrome, MIM# 275630"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":3763,"hash_id":null,"name":"Fetal anomalies","disease_group":"","disease_sub_group":"","description":"The Fetal Anomalies panel is intended to be used in the prenatal setting where multidisciplinary review (e.g. clinical geneticist, maternal-fetal medicine specialist, genetic pathologist, clinical scientist, paediatric subspecialist) considers a monogenic disorder is likely based on the presenting clinical features. It can also be used to direct analysis as part of fetal molecular autopsy.\r\n\r\nCommon example clinical indications include:\r\n• Multiple structural anomalies\r\n• Suspected skeletal dysplasias (IUGR of placental origin should be excluded)\r\n• Large echogenic kidneys (in the absence of ureter or bladder outlet obstruction)\r\n• Major CNS abnormalities (excluding neural tube defects)\r\n• Multiple contractures (excluding isolated bilateral talipes)\r\n• Nuchal translucency of greater than 6.5mm plus another anomaly (that can include a minor finding)\r\n• Isolated non-immune fetal hydrops (detected at or after the routine 18-20-week scan in the second or third trimesters), defined as fluid/oedema in at least two compartments (e.g. skin, pleural, pericardial or ascites).\r\n\r\nChromosomal microarray is strongly recommended prior to genomic testing.\r\n\r\nMore targeted panels such as Hydrops, Ventriculomegaly, Arhthrogryposis are also available.\r\n\r\nThis panel is based on a targeted virtual gene panel for developmental disorders developed by the PAGE (Prenatal Assessment of Genomes and Exomes) group, Lord et al 2019, and subsequent refinement by Genomics England/NHS Genomic Medicine Service. It incorporates panels used in the Melbourne Genomics Perinatal Molecular Autopsy study.","status":"public","version":"1.558","version_created":"2026-04-07T13:44:14.990434+10:00","relevant_disorders":[],"stats":{"number_of_genes":2207,"number_of_strs":3,"number_of_regions":6},"types":[{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"},{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:291","gene_name":"adenylosuccinate lyase","omim_gene":["608222"],"alias_name":null,"gene_symbol":"ADSL","hgnc_symbol":"ADSL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:40742507-40786467","ensembl_id":"ENSG00000239900"}},"GRch38":{"90":{"location":"22:40346500-40390463","ensembl_id":"ENSG00000239900"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"ADSL","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["1302001","22180458","18524658","27626380"],"evidence":["Expert Review Green","Genomics England PanelApp"],"phenotypes":["Adenylosuccinase deficiency, MIM# 103050"],"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":["DUP","RIS2"],"biotype":"protein_coding","hgnc_id":"HGNC:24576","gene_name":"chromatin licensing and DNA replication factor 1","omim_gene":["605525"],"alias_name":null,"gene_symbol":"CDT1","hgnc_symbol":"CDT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:88869621-88875666","ensembl_id":"ENSG00000167513"}},"GRch38":{"90":{"location":"16:88803213-88809258","ensembl_id":"ENSG00000167513"}}},"hgnc_date_symbol_changed":"2006-05-25"},"entity_type":"gene","entity_name":"CDT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Meier-Gorlin syndrome 4, MIM#613804"],"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":["FLJ25461","C9orf145","C9orf143","DKFZp686M16108","TILRR"],"biotype":"protein_coding","hgnc_id":"HGNC:23399","gene_name":"FRAS1 related extracellular matrix 1","omim_gene":["608944"],"alias_name":null,"gene_symbol":"FREM1","hgnc_symbol":"FREM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:14734664-14910993","ensembl_id":"ENSG00000164946"}},"GRch38":{"90":{"location":"9:14734666-14910995","ensembl_id":"ENSG00000164946"}}},"hgnc_date_symbol_changed":"2004-12-15"},"entity_type":"gene","entity_name":"FREM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32016392","21931569","21507892","19732862","20301721","28111185"],"evidence":["Expert Review Green","Genomics England PanelApp","Literature"],"phenotypes":["Manitoba oculotrichoanal syndrome 248450","Bifid nose with or without anorectal and renal anomalies, MIM# 608980","Trigonocephaly 2, MIM# 614485"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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. 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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":["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":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Genomics England PanelApp","Genetic Health Queensland"],"phenotypes":["Chediak-Higashi syndrome, MIM#214500"],"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. 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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. 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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:27288","gene_name":"acyl-CoA synthetase family member 3","omim_gene":["614245"],"alias_name":["malonyl-CoA synthetase"],"gene_symbol":"ACSF3","hgnc_symbol":"ACSF3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:89154783-89222254","ensembl_id":"ENSG00000176715"}},"GRch38":{"90":{"location":"16:89088375-89155846","ensembl_id":"ENSG00000176715"}}},"hgnc_date_symbol_changed":"2007-10-17"},"entity_type":"gene","entity_name":"ACSF3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["30740739"],"evidence":["Expert Review Red","Mackenzie's Mission"],"phenotypes":["Combined malonic and methylmalonic aciduria, MIM#614265"],"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":["FLJ33496","KIAA1843","UNC-80"],"biotype":"protein_coding","hgnc_id":"HGNC:26582","gene_name":"unc-80 homolog, NALCN channel complex subunit","omim_gene":["612636"],"alias_name":null,"gene_symbol":"UNC80","hgnc_symbol":"UNC80","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:210636717-210864024","ensembl_id":"ENSG00000144406"}},"GRch38":{"90":{"location":"2:209771993-209999300","ensembl_id":"ENSG00000144406"}}},"hgnc_date_symbol_changed":"2009-08-17"},"entity_type":"gene","entity_name":"UNC80","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26708753","26708751","30167850","30771478"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive"],"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":["LAS"],"biotype":"protein_coding","hgnc_id":"HGNC:16429","gene_name":"lipoic acid synthetase","omim_gene":["607031"],"alias_name":null,"gene_symbol":"LIAS","hgnc_symbol":"LIAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:39460620-39479273","ensembl_id":"ENSG00000121897"}},"GRch38":{"90":{"location":"4:39458587-39485109","ensembl_id":"ENSG00000121897"}}},"hgnc_date_symbol_changed":"2001-11-30"},"entity_type":"gene","entity_name":"LIAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22152680","24334290","26108146"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Hyperglycinaemia, lactic acidosis, and seizures MIM#614462"],"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":["FLJ45472"],"biotype":"protein_coding","hgnc_id":"HGNC:4235","gene_name":"glial fibrillary acidic protein","omim_gene":["137780"],"alias_name":["intermediate filament protein"],"gene_symbol":"GFAP","hgnc_symbol":"GFAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:42982376-42994305","ensembl_id":"ENSG00000131095"}},"GRch38":{"90":{"location":"17:44903161-44916937","ensembl_id":"ENSG00000131095"}}},"hgnc_date_symbol_changed":"1989-12-07"},"entity_type":"gene","entity_name":"GFAP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Amber","BabySeq Category A gene"],"phenotypes":["Alexander disease, MIM#203450"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["clinical trial"],"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":["DWF-1"],"biotype":"protein_coding","hgnc_id":"HGNC:3497","gene_name":"EvC ciliary complex subunit 1","omim_gene":["604831"],"alias_name":null,"gene_symbol":"EVC","hgnc_symbol":"EVC","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:5712924-5830772","ensembl_id":"ENSG00000072840"}},"GRch38":{"90":{"location":"4:5711197-5814305","ensembl_id":"ENSG00000072840"}}},"hgnc_date_symbol_changed":"1995-04-24"},"entity_type":"gene","entity_name":"EVC","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23220543"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Ellis-van Creveld syndrome, MIM# 225500"],"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":["SIGMA1B"],"biotype":"protein_coding","hgnc_id":"HGNC:560","gene_name":"adaptor related protein complex 1 sigma 2 subunit","omim_gene":["300629"],"alias_name":null,"gene_symbol":"AP1S2","hgnc_symbol":"AP1S2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:15843929-15873054","ensembl_id":"ENSG00000182287"}},"GRch38":{"90":{"location":"X:15825806-15854931","ensembl_id":"ENSG00000182287"}}},"hgnc_date_symbol_changed":"2000-09-01"},"entity_type":"gene","entity_name":"AP1S2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30714330","23756445","17186471"],"evidence":["Expert Review Green","Mackenzie's Mission"],"phenotypes":["Pettigrew syndrome, MIM# 304340"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":[],"panel":{"id":4225,"hash_id":null,"name":"Prepair 500+","disease_group":"Screening","disease_sub_group":"","description":"This panel is a subset of the prepair 1000+ panel that was originally developed as part of the Australian Reproductive Genetic Carrier Screening Research Project, also known as Mackenzie’s Mission (Kirk et al 2020; PMID: 32678339).\r\n\r\nIt has been further revised by Victorian Clinical Genetics Services based on research findings and experience of the clinical and laboratory teams. Genes included are associated with conditions that have an onset in childhood, are able to be screened using existing technology, have a severe impact on the affected individual, and have limited and/or burdensome treatment.\r\n\r\nGenes associated with treatable conditions are only included if the conditions are not covered by newborn screening in Australia.\r\n\r\nPlease note only Green genes are analysed and reported.","status":"public","version":"2.0","version_created":"2025-05-30T02:52:12.758302+10:00","relevant_disorders":[],"stats":{"number_of_genes":629,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17196","gene_name":"DNA helicase B","omim_gene":["614539"],"alias_name":null,"gene_symbol":"HELB","hgnc_symbol":"HELB","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:66696325-66737423","ensembl_id":"ENSG00000127311"}},"GRch38":{"90":{"location":"12:66302545-66347645","ensembl_id":"ENSG00000127311"}}},"hgnc_date_symbol_changed":"2004-03-25"},"entity_type":"gene","entity_name":"HELB","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41212051"],"evidence":["Expert Review Amber","Literature","Literature"],"phenotypes":["Premature ovarian failure, MONDO:0019852, HELB-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","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":["FLJ20479"],"biotype":"protein_coding","hgnc_id":"HGNC:14377","gene_name":"NHP2 ribonucleoprotein","omim_gene":["606470"],"alias_name":null,"gene_symbol":"NHP2","hgnc_symbol":"NHP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:177576461-177580968","ensembl_id":"ENSG00000145912"}},"GRch38":{"90":{"location":"5:178149460-178153967","ensembl_id":"ENSG00000145912"}}},"hgnc_date_symbol_changed":"2008-10-13"},"entity_type":"gene","entity_name":"NHP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["18523010","31985013"],"evidence":["Expert Review Green","Literature","Victorian Clinical Genetics Services"],"phenotypes":["dyskeratosis congenita, autosomal recessive 2 MONDO:0013519"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":4457,"hash_id":null,"name":"Hereditary Pigmentary Disorders","disease_group":"Dermatological disorders","disease_sub_group":"","description":"This panel contains genes associated with hereditary pigmentary skin disorders, including the following:\r\nCarney complex\r\nDermatopathia pigmentosa reticularis (including Naegeli-Franceschetti-Jadassohn syndrome)\r\nDowling-Degos disease\r\nDyschromatosis universalis hereditaria\r\nDyschromatosis symmetrica hereditaria\r\nDyskeratosis congenita\r\nFamilial progressive hyper- and hyperpigmentation\r\nIncontinentia pigmenti\r\nPiebaldism\r\nPrimary localised cutaneous amyloidosis\r\nReticulate acropigmentation of Kitamura\r\nWaardenburg syndrome\r\nXeroderma pigmentosum","status":"public","version":"1.5","version_created":"2026-01-02T16:51:24.217185+11:00","relevant_disorders":["Abnormality of skin pigmentation","HP:0001000"],"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"}],"child_panel_ids":[]},"transcript":[]},{"gene_data":{"alias":["SCA36"],"biotype":"protein_coding","hgnc_id":"HGNC:15911","gene_name":"NOP56 ribonucleoprotein","omim_gene":["614154"],"alias_name":["spinocerebellar ataxia 36"],"gene_symbol":"NOP56","hgnc_symbol":"NOP56","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:2632791-2639039","ensembl_id":"ENSG00000101361"}},"GRch38":{"90":{"location":"20:2652145-2658393","ensembl_id":"ENSG00000101361"}}},"hgnc_date_symbol_changed":"2009-01-13"},"entity_type":"str","entity_name":"NOP56_SCA36_GGCCTG","confidence_level":"3","penetrance":null,"publications":["21683323"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Spinocerebellar ataxia 36 MIM#614153"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","repeated_sequence":"GGCCTG","chromosome":"20","grch37_coordinates":[2633380,2633403],"grch38_coordinates":[2652734,2652757],"normal_repeats":14,"pathogenic_repeats":650,"tags":[],"panel":{"id":206,"hash_id":null,"name":"Regression","disease_group":"Neurology and neurodevelopmental disorders","disease_sub_group":"","description":"This panel was developed and is maintained by VCGS.","status":"public","version":"0.611","version_created":"2026-04-07T13:48:08.700916+10:00","relevant_disorders":["Developmental regression","HP:0002376"],"stats":{"number_of_genes":442,"number_of_strs":3,"number_of_regions":1},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]}}]}