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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["STK2","se20-9","KIAA0204"],"biotype":"protein_coding","hgnc_id":"HGNC:11088","gene_name":"STE20 like kinase","omim_gene":["616563"],"alias_name":null,"gene_symbol":"SLK","hgnc_symbol":"SLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:105726959-105788991","ensembl_id":"ENSG00000065613"}},"GRch38":{"90":{"location":"10:103967201-104029233","ensembl_id":"ENSG00000065613"}}},"hgnc_date_symbol_changed":"1992-04-16"},"entity_type":"gene","entity_name":"SLK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40347834"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SLK-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["BLP2","FLJ22604"],"biotype":"protein_coding","hgnc_id":"HGNC:24128","gene_name":"TM2 domain containing 3","omim_gene":["610014"],"alias_name":null,"gene_symbol":"TM2D3","hgnc_symbol":"TM2D3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:102161847-102192594","ensembl_id":"ENSG00000184277"}},"GRch38":{"90":{"location":"15:101621444-101652391","ensembl_id":"ENSG00000184277"}}},"hgnc_date_symbol_changed":"2005-05-19"},"entity_type":"gene","entity_name":"TM2D3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40449487"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurocardiorenal malformation syndrome, MIM# 621379"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ21924"],"biotype":"protein_coding","hgnc_id":"HGNC:26154","gene_name":"glutamine and serine rich 1","omim_gene":null,"alias_name":null,"gene_symbol":"QSER1","hgnc_symbol":"QSER1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:32914724-33014862","ensembl_id":"ENSG00000060749"}},"GRch38":{"90":{"location":"11:32893178-32993316","ensembl_id":"ENSG00000060749"}}},"hgnc_date_symbol_changed":"2006-02-06"},"entity_type":"gene","entity_name":"QSER1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41139957"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, QSER1-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ22175"],"biotype":"protein_coding","hgnc_id":"HGNC:26171","gene_name":"Fanconi anemia core complex associated protein 100","omim_gene":["611301"],"alias_name":["Fanconi anemia-associated protein, 100kDa"],"gene_symbol":"FAAP100","hgnc_symbol":"FAAP100","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:79506911-79520987","ensembl_id":"ENSG00000185504"}},"GRch38":{"90":{"location":"17:81539885-81553961","ensembl_id":"ENSG00000185504"}}},"hgnc_date_symbol_changed":"2015-05-29"},"entity_type":"gene","entity_name":"FAAP100","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["40244696","40232843"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Fanconi anaemia, complementation group X, MIM# 621258"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["GalNac-T10","FLJ12691","GalNac-T14"],"biotype":"protein_coding","hgnc_id":"HGNC:22946","gene_name":"polypeptide N-acetylgalactosaminyltransferase 14","omim_gene":["608225"],"alias_name":["polypeptide GalNAc transferase 14"],"gene_symbol":"GALNT14","hgnc_symbol":"GALNT14","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:31133333-31378068","ensembl_id":"ENSG00000158089"}},"GRch38":{"90":{"location":"2:30910467-31155202","ensembl_id":"ENSG00000158089"}}},"hgnc_date_symbol_changed":"2003-11-13"},"entity_type":"gene","entity_name":"GALNT14","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["40153534"],"evidence":["Expert Review Red","Literature"],"phenotypes":["IgA Nephropathy, susceptibility to, MONDO:0100555, GALNT14-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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:9642","gene_name":"protein tyrosine phosphatase, non-receptor type 1","omim_gene":["176885"],"alias_name":null,"gene_symbol":"PTPN1","hgnc_symbol":"PTPN1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49126891-49201299","ensembl_id":"ENSG00000196396"}},"GRch38":{"90":{"location":"20:50510321-50585241","ensembl_id":"ENSG00000196396"}}},"hgnc_date_symbol_changed":"1991-09-13"},"entity_type":"gene","entity_name":"PTPN1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39986310"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Type 1 interferonopathy of childhood, MONDO:0957408, PTPN1-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ13063"],"biotype":"protein_coding","hgnc_id":"HGNC:25781","gene_name":"armadillo repeat containing 5","omim_gene":["615549"],"alias_name":null,"gene_symbol":"ARMC5","hgnc_symbol":"ARMC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:31469401-31478487","ensembl_id":"ENSG00000140691"}},"GRch38":{"90":{"location":"16:31458080-31467166","ensembl_id":"ENSG00000140691"}}},"hgnc_date_symbol_changed":"2004-06-29"},"entity_type":"gene","entity_name":"ARMC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["39910635, 41042544, 25853793, 24283224, 24601692, 24708098, 24905064, 39006359, 32097969"],"evidence":["Expert Review Green","Literature","Literature"],"phenotypes":["ACTH-independent macronodular adrenal hyperplasia 2, MONDO:0014416"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["rpL17","L23"],"biotype":"protein_coding","hgnc_id":"HGNC:10316","gene_name":"ribosomal protein L23","omim_gene":["603662"],"alias_name":null,"gene_symbol":"RPL23","hgnc_symbol":"RPL23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:37004118-37010096","ensembl_id":"ENSG00000125691"}},"GRch38":{"90":{"location":"17:38847865-38853843","ensembl_id":"ENSG00000125691"}}},"hgnc_date_symbol_changed":"1998-11-30"},"entity_type":"gene","entity_name":"RPL23","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["28297620"],"evidence":["Curated sources","Expert Review Red","Expert Review Red","Curated sources"],"phenotypes":["Osteosarcoma, soft tissue sarcomas","Diamond Blackfan Anemia","MDS, AML","Class: BM failure syndrome (typ AR)"],"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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["ZMYND7","RP8"],"biotype":"protein_coding","hgnc_id":"HGNC:8762","gene_name":"programmed cell death 2","omim_gene":["600866"],"alias_name":null,"gene_symbol":"PDCD2","hgnc_symbol":"PDCD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170884383-170893780","ensembl_id":"ENSG00000071994"}},"GRch38":{"90":{"location":"6:170575295-170584692","ensembl_id":"ENSG00000071994"}}},"hgnc_date_symbol_changed":"1995-01-03"},"entity_type":"gene","entity_name":"PDCD2","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40208938"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Non-immune hydrops fetalis, MONDO:0009369, PDCD2-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["PCDC5RP","hCDC5","CEF1","CDC5"],"biotype":"protein_coding","hgnc_id":"HGNC:1743","gene_name":"cell division cycle 5 like","omim_gene":["602868"],"alias_name":null,"gene_symbol":"CDC5L","hgnc_symbol":"CDC5L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:44355262-44418163","ensembl_id":"ENSG00000096401"}},"GRch38":{"90":{"location":"6:44387525-44450426","ensembl_id":"ENSG00000096401"}}},"hgnc_date_symbol_changed":"1997-08-28"},"entity_type":"gene","entity_name":"CDC5L","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["24429398"],"evidence":["Expert list","Expert Review Red","Expert Review Red","Expert list"],"phenotypes":["Congenital abnormalities of the kidneys and urinary tract"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["MDC3"],"biotype":"protein_coding","hgnc_id":"HGNC:202","gene_name":"ADAM metallopeptidase domain 23","omim_gene":["603710"],"alias_name":null,"gene_symbol":"ADAM23","hgnc_symbol":"ADAM23","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:207308263-207485851","ensembl_id":"ENSG00000114948"}},"GRch38":{"90":{"location":"2:206443539-206621130","ensembl_id":"ENSG00000114948"}}},"hgnc_date_symbol_changed":"1998-12-01"},"entity_type":"gene","entity_name":"ADAM23","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["(PMID: 40455867)"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neonatal-onset developmental and epileptic encephalopathy, MONDO:0100455, ADAM23-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["SCO-spondin","KIAA0543","FLJ36112"],"biotype":"protein_coding","hgnc_id":"HGNC:21998","gene_name":"SCO-spondin","omim_gene":["617356"],"alias_name":["subcommissural organ spondin","SCO protein, thrombospondin domain containing"],"gene_symbol":"SSPO","hgnc_symbol":"SSPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:149473131-149531068","ensembl_id":"ENSG00000197558"}},"GRch38":{"90":{"location":"7:149776042-149833979","ensembl_id":"ENSG00000197558"}}},"hgnc_date_symbol_changed":"2005-11-25"},"entity_type":"gene","entity_name":"SSPO","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID: 41077560"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Neurodevelopmental disorder, MONDO:0700092, SSPOP-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["new gene name"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["OTT","OTT1"],"biotype":"protein_coding","hgnc_id":"HGNC:14959","gene_name":"RNA binding motif protein 15","omim_gene":["606077"],"alias_name":["one twenty-two"],"gene_symbol":"RBM15","hgnc_symbol":"RBM15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:110881128-110889299","ensembl_id":"ENSG00000162775"}},"GRch38":{"90":{"location":"1:110338506-110346681","ensembl_id":"ENSG00000162775"}}},"hgnc_date_symbol_changed":"2001-05-10"},"entity_type":"gene","entity_name":"RBM15","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["41058181"],"evidence":["Expert Review Red","Literature"],"phenotypes":["Congenital mirror movements, RBM15-related, MONDO:0016558"],"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. 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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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["PRT1","eIF3b"],"biotype":"protein_coding","hgnc_id":"HGNC:3280","gene_name":"eukaryotic translation initiation factor 3 subunit B","omim_gene":["603917"],"alias_name":null,"gene_symbol":"EIF3B","hgnc_symbol":"EIF3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:2393721-2420380","ensembl_id":"ENSG00000106263"}},"GRch38":{"90":{"location":"7:2354086-2380745","ensembl_id":"ENSG00000106263"}}},"hgnc_date_symbol_changed":"2007-07-27"},"entity_type":"gene","entity_name":"EIF3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":null,"publications":["41033306"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Syndromic disease (MONDO:0002254), EIF3B-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["FLJ31633"],"biotype":"protein_coding","hgnc_id":"HGNC:6058","gene_name":"inner centromere protein","omim_gene":["604411"],"alias_name":null,"gene_symbol":"INCENP","hgnc_symbol":"INCENP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61891445-61920635","ensembl_id":"ENSG00000149503"}},"GRch38":{"90":{"location":"11:62123973-62153163","ensembl_id":"ENSG00000149503"}}},"hgnc_date_symbol_changed":"1988-06-09"},"entity_type":"gene","entity_name":"INCENP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["41005306"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Oocyte/zygote/embryo maturation arrest MONDO:0014769, INCENP-related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["U5A","U5B1"],"biotype":"snRNA","hgnc_id":"HGNC:10211","gene_name":"RNA, U5A small nuclear 1","omim_gene":["180691"],"alias_name":null,"gene_symbol":"RNU5A-1","hgnc_symbol":"RNU5A-1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:65588389-65588504","ensembl_id":"ENSG00000199568"}},"GRch38":{"90":{"location":"15:65296051-65296166","ensembl_id":"ENSG00000199568"}}},"hgnc_date_symbol_changed":"2011-08-03"},"entity_type":"gene","entity_name":"RNU5A-1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":null,"publications":["40379786"],"evidence":["Expert Review Amber","Literature"],"phenotypes":["Neurodevelopmental disorder (MONDO:0700092), RNU5A-1 related"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["KIAA0404"],"biotype":"protein_coding","hgnc_id":"HGNC:29028","gene_name":"autophagy related 2A","omim_gene":["616225"],"alias_name":null,"gene_symbol":"ATG2A","hgnc_symbol":"ATG2A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:64662007-64684722","ensembl_id":"ENSG00000110046"}},"GRch38":{"90":{"location":"11:64894546-64917248","ensembl_id":"ENSG00000110046"}}},"hgnc_date_symbol_changed":"2007-07-31"},"entity_type":"gene","entity_name":"ATG2A","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":null,"publications":["PMID:40631414"],"evidence":["Expert Review Red","Literature"],"phenotypes":["complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038"],"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":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"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":["Dwfc","JV5-1"],"biotype":"protein_coding","hgnc_id":"HGNC:6771","gene_name":"SMAD family member 5","omim_gene":["603110"],"alias_name":null,"gene_symbol":"SMAD5","hgnc_symbol":"SMAD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:135468534-135524435","ensembl_id":"ENSG00000113658"}},"GRch38":{"90":{"location":"5:136132845-136188747","ensembl_id":"ENSG00000113658"}}},"hgnc_date_symbol_changed":"2004-05-26"},"entity_type":"gene","entity_name":"SMAD5","confidence_level":"3","penetrance":"Incomplete","mode_of_pathogenicity":null,"publications":["PMID: 40619738"],"evidence":["Expert Review Green","Literature"],"phenotypes":["Congenital heart disease, MONDO:0005453, SMAD5-related"],"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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