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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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["DKFZp434O0527","MGC35338"],"biotype":"protein_coding","hgnc_id":"HGNC:25325","gene_name":"cilia and flagella associated protein 65","omim_gene":["614270"],"alias_name":null,"gene_symbol":"CFAP65","hgnc_symbol":"CFAP65","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:219867568-219906249","ensembl_id":"ENSG00000181378"}},"GRch38":{"90":{"location":"2:219002846-219041527","ensembl_id":"ENSG00000181378"}}},"hgnc_date_symbol_changed":"2015-10-23"},"entity_type":"gene","entity_name":"CFAP65","confidence_level":"3","penetrance":"unknown","mode_of_pathogenicity":null,"publications":["31501240","31413122","34231842"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 40\t618664"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:17111","gene_name":"ADAM metallopeptidase with thrombospondin type 1 motif 19","omim_gene":["607513"],"alias_name":null,"gene_symbol":"ADAMTS19","hgnc_symbol":"ADAMTS19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:128795958-129074376","ensembl_id":"ENSG00000145808"}},"GRch38":{"90":{"location":"5:129460265-129738683","ensembl_id":"ENSG00000145808"}}},"hgnc_date_symbol_changed":"2002-03-05"},"entity_type":"gene","entity_name":"ADAMTS19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31844321","32323311"],"evidence":["Expert Review Green","Expert Review"],"phenotypes":["Cardiac valvular dysplasia 2, MIM# 620067"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ39458"],"biotype":"protein_coding","hgnc_id":"HGNC:31750","gene_name":"sterile alpha motif domain containing 12","omim_gene":null,"alias_name":null,"gene_symbol":"SAMD12","hgnc_symbol":"SAMD12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:119201698-119634234","ensembl_id":"ENSG00000177570"}},"GRch38":{"90":{"location":"8:118189459-118621995","ensembl_id":"ENSG00000177570"}}},"hgnc_date_symbol_changed":"2004-07-15"},"entity_type":"gene","entity_name":"SAMD12","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":null,"publications":["30194086","29507423"],"evidence":["Expert Review Removed","Literature"],"phenotypes":["Epilepsy, familial adult myoclonic, 1 601068"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","tags":["STR","deep intronic"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["RDC1","GPR159"],"biotype":"protein_coding","hgnc_id":"HGNC:23692","gene_name":"atypical chemokine receptor 3","omim_gene":["610376"],"alias_name":null,"gene_symbol":"ACKR3","hgnc_symbol":"ACKR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:237476430-237491001","ensembl_id":"ENSG00000144476"}},"GRch38":{"90":{"location":"2:236567787-236582358","ensembl_id":"ENSG00000144476"}}},"hgnc_date_symbol_changed":"2013-07-16"},"entity_type":"gene","entity_name":"ACKR3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 3121183"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Oculomotor-abducens synkinesis, MIM# 619215"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KPL2","FLJ23577","CT122"],"biotype":"protein_coding","hgnc_id":"HGNC:26293","gene_name":"sperm flagellar 2","omim_gene":["610172"],"alias_name":["cancer/testis antigen 122"],"gene_symbol":"SPEF2","hgnc_symbol":"SPEF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:35617946-35814713","ensembl_id":"ENSG00000152582"}},"GRch38":{"90":{"location":"5:35617844-35814611","ensembl_id":"ENSG00000152582"}}},"hgnc_date_symbol_changed":"2007-08-20"},"entity_type":"gene","entity_name":"SPEF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31151990","31278745","31048344","31942643"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Spermatogenic failure 43, MIM#618751","Spermatogenic failure 43, MIM#618751","Primary ciliary dyskinesia-like phenotype"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["Gsh2"],"biotype":"protein_coding","hgnc_id":"HGNC:24959","gene_name":"GS homeobox 2","omim_gene":["616253"],"alias_name":null,"gene_symbol":"GSX2","hgnc_symbol":"GSX2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:54965690-54968672","ensembl_id":"ENSG00000180613"}},"GRch38":{"90":{"location":"4:54099523-54102505","ensembl_id":"ENSG00000180613"}}},"hgnc_date_symbol_changed":"2007-07-26"},"entity_type":"gene","entity_name":"GSX2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 31412107"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KIAA0905","ABP125","ABP130"],"biotype":"protein_coding","hgnc_id":"HGNC:17052","gene_name":"SEC31 homolog A, COPII coat complex component","omim_gene":["610257"],"alias_name":null,"gene_symbol":"SEC31A","hgnc_symbol":"SEC31A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:83739814-83822319","ensembl_id":"ENSG00000138674"}},"GRch38":{"90":{"location":"4:82818661-82901166","ensembl_id":"ENSG00000138674"}}},"hgnc_date_symbol_changed":"2006-09-07"},"entity_type":"gene","entity_name":"SEC31A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30464055","40508110","39725565"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["Halperin-Birk syndrome, MIM# 618651"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3649","gene_name":"fem-1 homolog B","omim_gene":["613539"],"alias_name":null,"gene_symbol":"FEM1B","hgnc_symbol":"FEM1B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:68570141-68588203","ensembl_id":"ENSG00000169018"}},"GRch38":{"90":{"location":"15:68277803-68295865","ensembl_id":"ENSG00000169018"}}},"hgnc_date_symbol_changed":"1999-05-25"},"entity_type":"gene","entity_name":"FEM1B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","38465576"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, MIM# 621263"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["GIP"],"biotype":"protein_coding","hgnc_id":"HGNC:4385","gene_name":"G protein subunit alpha i2","omim_gene":["139360"],"alias_name":["GTP-binding regulatory protein Gi alpha-2 chain"],"gene_symbol":"GNAI2","hgnc_symbol":"GNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50263724-50296787","ensembl_id":"ENSG00000114353"}},"GRch38":{"90":{"location":"3:50226292-50259355","ensembl_id":"ENSG00000114353"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"GNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31036916","40926810","39298586"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease MONDO:0002254, GNAI2-related"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["CSRP2BP"],"biotype":"protein_coding","hgnc_id":"HGNC:40045","gene_name":"PET117 homolog","omim_gene":["614771"],"alias_name":null,"gene_symbol":"PET117","hgnc_symbol":"PET117","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:18118517-18123813","ensembl_id":"ENSG00000232838"}},"GRch38":{"90":{"location":"20:18137873-18143169","ensembl_id":"ENSG00000232838"}}},"hgnc_date_symbol_changed":"2012-02-23"},"entity_type":"gene","entity_name":"PET117","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["28386624"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063","Developmental delay","Regression","Complex IV 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. 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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["CPSF160"],"biotype":"protein_coding","hgnc_id":"HGNC:2324","gene_name":"cleavage and polyadenylation specific factor 1","omim_gene":["606027"],"alias_name":null,"gene_symbol":"CPSF1","hgnc_symbol":"CPSF1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:145618444-145634753","ensembl_id":"ENSG00000071894"}},"GRch38":{"90":{"location":"8:144393229-144409349","ensembl_id":"ENSG00000071894"}}},"hgnc_date_symbol_changed":"2000-05-31"},"entity_type":"gene","entity_name":"CPSF1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30689892"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Myopia 27, 618827","high myopia","early-onset high myopia"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["DR-nm23","NM23-H3","NDPKC"],"biotype":"protein_coding","hgnc_id":"HGNC:7851","gene_name":"NME/NM23 nucleoside diphosphate kinase 3","omim_gene":["601817"],"alias_name":null,"gene_symbol":"NME3","hgnc_symbol":"NME3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:1820287-1821731","ensembl_id":"ENSG00000103024"}},"GRch38":{"90":{"location":"16:1770286-1771730","ensembl_id":"ENSG00000103024"}}},"hgnc_date_symbol_changed":"1996-12-19"},"entity_type":"gene","entity_name":"NME3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["30587587"],"evidence":["Expert Review Red","Expert list"],"phenotypes":["Hypotonia","Neurodegeneration","Abnormal mitochondrial dynamics"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KIAA1350"],"biotype":"protein_coding","hgnc_id":"HGNC:29255","gene_name":"ubiquitin specific peptidase 53","omim_gene":["617431"],"alias_name":null,"gene_symbol":"USP53","hgnc_symbol":"USP53","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:120133742-120216672","ensembl_id":"ENSG00000145390"}},"GRch38":{"90":{"location":"4:119212587-119295517","ensembl_id":"ENSG00000145390"}}},"hgnc_date_symbol_changed":"2004-01-28"},"entity_type":"gene","entity_name":"USP53","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["30250217","32124521","33075013"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM#\t619658"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FREAC2"],"biotype":"protein_coding","hgnc_id":"HGNC:3810","gene_name":"forkhead box F2","omim_gene":["603250"],"alias_name":null,"gene_symbol":"FOXF2","hgnc_symbol":"FOXF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:1390069-1395832","ensembl_id":"ENSG00000137273"}},"GRch38":{"90":{"location":"6:1389834-1395597","ensembl_id":"ENSG00000137273"}}},"hgnc_date_symbol_changed":"1995-06-05"},"entity_type":"gene","entity_name":"FOXF2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30561639","22022403"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["profound sensorineural hearing loss (SNHL)","cochlea malformations","incomplete partition type I anomaly of the cochlea"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:15594","gene_name":"debranching RNA lariats 1","omim_gene":["607024"],"alias_name":null,"gene_symbol":"DBR1","hgnc_symbol":"DBR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:137879854-137893791","ensembl_id":"ENSG00000138231"}},"GRch38":{"90":{"location":"3:138161012-138174949","ensembl_id":"ENSG00000138231"}}},"hgnc_date_symbol_changed":"2001-04-26"},"entity_type":"gene","entity_name":"DBR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39023559, 29474921, 37656279"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["{Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441","Viral infections of the brainstem","Xerosis and growth failure with immune and pulmonary dysfunction syndrome, MIM# 620510"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["flj32422","MGC3200"],"biotype":"protein_coding","hgnc_id":"HGNC:28466","gene_name":"RNA polymerase III subunit G like","omim_gene":["617457"],"alias_name":null,"gene_symbol":"POLR3GL","hgnc_symbol":"POLR3GL","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145456236-145470388","ensembl_id":"ENSG00000121851"}},"GRch38":{"90":{"location":"1:145964702-145978848","ensembl_id":"ENSG00000121851"}}},"hgnc_date_symbol_changed":"2005-02-02"},"entity_type":"gene","entity_name":"POLR3GL","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["31089205","31695177"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Short stature, oligodontia, dysmorphic facies, and motor delay (SOFM), MIM#619234","endosteal hyperostosis","oligodontia","growth retardation","facial dysmorphisms","lipodystrophy"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:24063","gene_name":"galactose mutarotase","omim_gene":["137030"],"alias_name":["aldose 1-epimerase","aldose mutarotase","galactomutarotase"],"gene_symbol":"GALM","hgnc_symbol":"GALM","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:38893052-38968379","ensembl_id":"ENSG00000143891"}},"GRch38":{"90":{"location":"2:38665910-38741237","ensembl_id":"ENSG00000143891"}}},"hgnc_date_symbol_changed":"2004-01-13"},"entity_type":"gene","entity_name":"GALM","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 30451973","30910422"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Literature"],"phenotypes":["galactosaemia","type IV galactosaemia MONDO:0030105"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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:13361","gene_name":"matrix extracellular phosphoglycoprotein","omim_gene":["605912"],"alias_name":null,"gene_symbol":"MEPE","hgnc_symbol":"MEPE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:88742563-88767969","ensembl_id":"ENSG00000152595"}},"GRch38":{"90":{"location":"4:87821411-87846817","ensembl_id":"ENSG00000152595"}}},"hgnc_date_symbol_changed":"2000-09-19"},"entity_type":"gene","entity_name":"MEPE","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30287925"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Nonsyndromic genetic hearing loss, MONDO:0019497, MEPE-related","hereditary congenital facial paresis","otosclerosis"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KIAA1028","bA346C16.3"],"biotype":"protein_coding","hgnc_id":"HGNC:19338","gene_name":"cyclin dependent kinase 19","omim_gene":["614720"],"alias_name":null,"gene_symbol":"CDK19","hgnc_symbol":"CDK19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:110931181-111137161","ensembl_id":"ENSG00000155111"}},"GRch38":{"90":{"location":"6:110609978-110815958","ensembl_id":"ENSG00000155111"}}},"hgnc_date_symbol_changed":"2009-12-16"},"entity_type":"gene","entity_name":"CDK19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["32330417"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Intellectual disability","epileptic encephalopathy","Epileptic encephalopathy, early infantile, 87, MIM#\t618916"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["RPC62","RPC3"],"biotype":"protein_coding","hgnc_id":"HGNC:30076","gene_name":"RNA polymerase III subunit C","omim_gene":["617454"],"alias_name":null,"gene_symbol":"POLR3C","hgnc_symbol":"POLR3C","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:145592605-145611025","ensembl_id":"ENSG00000186141"}},"GRch38":{"90":{"location":"1:145824088-145842505","ensembl_id":"ENSG00000186141"}}},"hgnc_date_symbol_changed":"2004-04-21"},"entity_type":"gene","entity_name":"POLR3C","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["28783042"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Severe VZV infection"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["IFRC"],"biotype":"protein_coding","hgnc_id":"HGNC:5432","gene_name":"interferon alpha and beta receptor subunit 1","omim_gene":["107450"],"alias_name":null,"gene_symbol":"IFNAR1","hgnc_symbol":"IFNAR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34696734-34732168","ensembl_id":"ENSG00000142166"}},"GRch38":{"90":{"location":"21:33324477-33359862","ensembl_id":"ENSG00000142166"}}},"hgnc_date_symbol_changed":"1986-01-01"},"entity_type":"gene","entity_name":"IFNAR1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["31270247","35442418"],"evidence":["Expert Review Green","Expert list"],"phenotypes":["Immunodeficiency 106, susceptibility to viral infections, MIM# 619935","Severe disease caused by Yellow Fever vaccine and Measles vaccine"],"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":"1.4757","version_created":"2026-04-22T15:49:09.648412+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":8},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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:6131","gene_name":"interferon regulatory factor 9","omim_gene":["147574"],"alias_name":null,"gene_symbol":"IRF9","hgnc_symbol":"IRF9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24630262-24635774","ensembl_id":"ENSG00000213928"}},"GRch38":{"90":{"location":"14:24161053-24166565","ensembl_id":"ENSG00000213928"}}},"hgnc_date_symbol_changed":"2007-07-06"},"entity_type":"gene","entity_name":"IRF9","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["30826365","30143481"],"evidence":["Expert Review Amber","Expert list"],"phenotypes":["Immunodeficiency 65, susceptibility to viral infections\t618648"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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