{"count":35523,"next":"https://panelapp-aus.org/api/v1/genes/?format=json&page=69","previous":"https://panelapp-aus.org/api/v1/genes/?format=json&page=67","results":[{"gene_data":{"alias":["EKN1","FLJ37882","CILD25"],"biotype":"protein_coding","hgnc_id":"HGNC:21493","gene_name":"dynein axonemal assembly factor 4","omim_gene":["608706"],"alias_name":["dynein, axonemal, assembly factor 4"],"gene_symbol":"DNAAF4","hgnc_symbol":"DNAAF4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"15:55702723-55800432","ensembl_id":"ENSG00000256061"}},"GRch38":{"90":{"location":"15:55410525-55508234","ensembl_id":"ENSG00000256061"}}},"hgnc_date_symbol_changed":"2017-03-20"},"entity_type":"gene","entity_name":"DNAAF4","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23872636"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 25, MIM# 615482"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV","founder"],"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":null},{"gene_data":{"alias":["FLJ20397","FLJ31671","FLJ39381","FLJ25564","CILD18"],"biotype":"protein_coding","hgnc_id":"HGNC:26013","gene_name":"dynein axonemal assembly factor 5","omim_gene":["614864"],"alias_name":null,"gene_symbol":"DNAAF5","hgnc_symbol":"DNAAF5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:766338-829190","ensembl_id":"ENSG00000164818"}},"GRch38":{"90":{"location":"7:726701-786475","ensembl_id":"ENSG00000164818"}}},"hgnc_date_symbol_changed":"2014-12-05"},"entity_type":"gene","entity_name":"DNAAF5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23040496","29363216","25232951"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 18, MIM# 614874"],"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":null},{"gene_data":{"alias":["XLHSRF-1","DNAHC1","HDHC7","HL-11","HL11"],"biotype":"protein_coding","hgnc_id":"HGNC:2940","gene_name":"dynein axonemal heavy chain 1","omim_gene":["603332"],"alias_name":null,"gene_symbol":"DNAH1","hgnc_symbol":"DNAH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:52350335-52434507","ensembl_id":"ENSG00000114841"}},"GRch38":{"90":{"location":"3:52316319-52400491","ensembl_id":"ENSG00000114841"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34867808, 31507630, 24360805, 27798045, 11371505, 27798045, 29449551, 25927852, 31765523, 33577779, 34210339"],"evidence":["Expert Review Green","ClinGen"],"phenotypes":["Spermatogenic failure 18, MONDO:0054615","Primary ciliary dyskinesia 7, MONDO:0012748"],"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":null},{"gene_data":{"alias":["FLJ30744"],"biotype":"protein_coding","hgnc_id":"HGNC:16517","gene_name":"transmembrane protease, serine 6","omim_gene":["609862"],"alias_name":["matriptase-2"],"gene_symbol":"TMPRSS6","hgnc_symbol":"TMPRSS6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:37461476-37505603","ensembl_id":"ENSG00000187045"}},"GRch38":{"90":{"location":"22:37065436-37109563","ensembl_id":"ENSG00000187045"}}},"hgnc_date_symbol_changed":"2003-12-17"},"entity_type":"gene","entity_name":"TMPRSS6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18408718","8596229","18596229","19592582"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Iron-refractory iron deficiency anaemia MIM# 206200","Iron malabsorption","hypochromic microcytic anaemia"],"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":null},{"gene_data":{"alias":["Dnahc11","DPL11","CILD7","DNAHC11","DNAHBL","DNHBL"],"biotype":"protein_coding","hgnc_id":"HGNC:2942","gene_name":"dynein axonemal heavy chain 11","omim_gene":["603339"],"alias_name":["dynein, ciliary, heavy chain 11","dynein, heavy chain beta-like"],"gene_symbol":"DNAH11","hgnc_symbol":"DNAH11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:21582833-21941457","ensembl_id":"ENSG00000105877"}},"GRch38":{"90":{"location":"7:21543215-21901839","ensembl_id":"ENSG00000105877"}}},"hgnc_date_symbol_changed":"1999-02-15"},"entity_type":"gene","entity_name":"DNAH11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12142464","18022865","22102620","32633470","31879361","31765523","31040315"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11877","gene_name":"transmembrane protease, serine 3","omim_gene":["605511"],"alias_name":null,"gene_symbol":"TMPRSS3","hgnc_symbol":"TMPRSS3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:43791999-43816955","ensembl_id":"ENSG00000160183"}},"GRch38":{"90":{"location":"21:42371890-42396846","ensembl_id":"ENSG00000160183"}}},"hgnc_date_symbol_changed":"2000-05-17"},"entity_type":"gene","entity_name":"TMPRSS3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21786053","17551081"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 8/10, MIM#601072"],"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":null},{"gene_data":{"alias":["ENTK","MGC133046"],"biotype":"protein_coding","hgnc_id":"HGNC:9490","gene_name":"transmembrane protease, serine 15","omim_gene":["606635"],"alias_name":["proenterokinase","enteropeptidase"],"gene_symbol":"TMPRSS15","hgnc_symbol":"TMPRSS15","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:19641433-19858197","ensembl_id":"ENSG00000154646"}},"GRch38":{"90":{"location":"21:18269116-18485879","ensembl_id":"ENSG00000154646"}}},"hgnc_date_symbol_changed":"2010-04-21"},"entity_type":"gene","entity_name":"TMPRSS15","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11719902","33061943"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Enterokinase deficiency, MIM# 226200"],"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":null},{"gene_data":{"alias":["TP","LAP2","LEMD4"],"biotype":"protein_coding","hgnc_id":"HGNC:11875","gene_name":"thymopoietin","omim_gene":["188380"],"alias_name":["LEM domain containing 4"],"gene_symbol":"TMPO","hgnc_symbol":"TMPO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:98909290-98944157","ensembl_id":"ENSG00000120802"}},"GRch38":{"90":{"location":"12:98515512-98550379","ensembl_id":"ENSG00000120802"}}},"hgnc_date_symbol_changed":"1994-11-08"},"entity_type":"gene","entity_name":"TMPO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["refuted"],"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":null},{"gene_data":{"alias":["TMLH","FLJ10727","BBOX2","XAP130"],"biotype":"protein_coding","hgnc_id":"HGNC:18308","gene_name":"trimethyllysine hydroxylase, epsilon","omim_gene":["300777"],"alias_name":["butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"],"gene_symbol":"TMLHE","hgnc_symbol":"TMLHE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:154719776-154899605","ensembl_id":"ENSG00000185973"}},"GRch38":{"90":{"location":"X:155490115-155669944","ensembl_id":"ENSG00000185973"}}},"hgnc_date_symbol_changed":"2002-04-26"},"entity_type":"gene","entity_name":"TMLHE","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["21865298"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Autism, susceptibility to, X-linked 6}, MIM#300872"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","tags":["disputed"],"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":null},{"gene_data":{"alias":["Dnahc5","HL1","PCD","CILD3","KTGNR"],"biotype":"protein_coding","hgnc_id":"HGNC:2950","gene_name":"dynein axonemal heavy chain 5","omim_gene":["603335"],"alias_name":["dynein heavy chain 5"],"gene_symbol":"DNAH5","hgnc_symbol":"DNAH5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:13690440-13944652","ensembl_id":"ENSG00000039139"}},"GRch38":{"90":{"location":"5:13690331-13944543","ensembl_id":"ENSG00000039139"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16627867"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644)"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:30800","gene_name":"transmembrane inner ear","omim_gene":["607237"],"alias_name":null,"gene_symbol":"TMIE","hgnc_symbol":"TMIE","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:46742823-46752376","ensembl_id":"ENSG00000181585"}},"GRch38":{"90":{"location":"3:46701333-46710886","ensembl_id":"ENSG00000181585"}}},"hgnc_date_symbol_changed":"2004-05-19"},"entity_type":"gene","entity_name":"TMIE","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12145746","19438934","24416283","25467981","25475183","19934034","12140191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal recessive 6, MIM# 600971"],"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":null},{"gene_data":{"alias":["DKFZP564K1964"],"biotype":"protein_coding","hgnc_id":"HGNC:24529","gene_name":"transmembrane protein 98","omim_gene":["615949"],"alias_name":null,"gene_symbol":"TMEM98","hgnc_symbol":"TMEM98","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:31254928-31272124","ensembl_id":"ENSG00000006042"}},"GRch38":{"90":{"location":"17:32927910-32945106","ensembl_id":"ENSG00000006042"}}},"hgnc_date_symbol_changed":"2005-12-16"},"entity_type":"gene","entity_name":"TMEM98","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24852644","26392740"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Nanophthalmos 4 MIM#615972"],"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":null},{"gene_data":{"alias":["FLJ20533"],"biotype":"protein_coding","hgnc_id":"HGNC:26050","gene_name":"transmembrane protein 70","omim_gene":["612418"],"alias_name":null,"gene_symbol":"TMEM70","hgnc_symbol":"TMEM70","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:74884672-74895018","ensembl_id":"ENSG00000175606"}},"GRch38":{"90":{"location":"8:73972437-73982783","ensembl_id":"ENSG00000175606"}}},"hgnc_date_symbol_changed":"2005-08-26"},"entity_type":"gene","entity_name":"TMEM70","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18953340","21147908","30950220"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052"],"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":null},{"gene_data":{"alias":["MGC26979","JBTS6","NPHP11"],"biotype":"protein_coding","hgnc_id":"HGNC:28396","gene_name":"transmembrane protein 67","omim_gene":["609884"],"alias_name":["Meckelin"],"gene_symbol":"TMEM67","hgnc_symbol":"TMEM67","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:94767072-94831462","ensembl_id":"ENSG00000164953"}},"GRch38":{"90":{"location":"8:93754844-93819234","ensembl_id":"ENSG00000164953"}}},"hgnc_date_symbol_changed":"2005-08-04"},"entity_type":"gene","entity_name":"TMEM67","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16415887","17377820","17160906","19508969"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 6, MIM# 610688","Meckel syndrome 3, MIM# 607361","Nephronophthisis 11, MIM# 613550","COACH syndrome 1, MIM# 216360"],"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":null},{"gene_data":{"alias":["hdhc9"],"biotype":"protein_coding","hgnc_id":"HGNC:2952","gene_name":"dynein axonemal heavy chain 8","omim_gene":["603337"],"alias_name":null,"gene_symbol":"DNAH8","hgnc_symbol":"DNAH8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:38683117-38998301","ensembl_id":"ENSG00000124721"}},"GRch38":{"90":{"location":"6:38715341-39030529","ensembl_id":"ENSG00000124721"}}},"hgnc_date_symbol_changed":"1995-11-15"},"entity_type":"gene","entity_name":"DNAH8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31178125, 32619401, 32681648, 33704367, 24307375"],"evidence":["ClinGen","Expert Review Green"],"phenotypes":["Spermatogenic failure 46, MONDO:0033673","Primary ciliary dyskinesia, MONDO:0016575, DNAH8-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":null},{"gene_data":{"alias":["FLJ10493","bA219P18.1","D4Ertd89e","TRIC-B"],"biotype":"protein_coding","hgnc_id":"HGNC:25535","gene_name":"transmembrane protein 38B","omim_gene":["611236"],"alias_name":null,"gene_symbol":"TMEM38B","hgnc_symbol":"TMEM38B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:108456825-108538893","ensembl_id":"ENSG00000095209"}},"GRch38":{"90":{"location":"9:105694544-105776612","ensembl_id":"ENSG00000095209"}}},"hgnc_date_symbol_changed":"2004-12-22"},"entity_type":"gene","entity_name":"TMEM38B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23054245"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteogenesis imperfecta, type XIV, MIM# 615066"],"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":null},{"gene_data":{"alias":["FLJ20392"],"biotype":"protein_coding","hgnc_id":"HGNC:20185","gene_name":"transmembrane protein 260","omim_gene":["617449"],"alias_name":null,"gene_symbol":"TMEM260","hgnc_symbol":"TMEM260","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:56955072-57117324","ensembl_id":"ENSG00000070269"}},"GRch38":{"90":{"location":"14:56488354-56650606","ensembl_id":"ENSG00000070269"}}},"hgnc_date_symbol_changed":"2013-03-08"},"entity_type":"gene","entity_name":"TMEM260","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28318500"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Structural heart defects and renal anomalies syndrome, MIM# 617478"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:25186","gene_name":"transmembrane protein 240","omim_gene":["616101"],"alias_name":null,"gene_symbol":"TMEM240","hgnc_symbol":"TMEM240","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:1470554-1475833","ensembl_id":"ENSG00000205090"}},"GRch38":{"90":{"location":"1:1535174-1540453","ensembl_id":"ENSG00000205090"}}},"hgnc_date_symbol_changed":"2011-11-25"},"entity_type":"gene","entity_name":"TMEM240","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25070513"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Spinocerebellar ataxia 21, MIM# 607454"],"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":null},{"gene_data":{"alias":["JBTS14"],"biotype":"protein_coding","hgnc_id":"HGNC:14432","gene_name":"transmembrane protein 237","omim_gene":["614423"],"alias_name":null,"gene_symbol":"TMEM237","hgnc_symbol":"TMEM237","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:202484907-202508293","ensembl_id":"ENSG00000155755"}},"GRch38":{"90":{"location":"2:201620184-201643570","ensembl_id":"ENSG00000155755"}}},"hgnc_date_symbol_changed":"2011-05-20"},"entity_type":"gene","entity_name":"TMEM237","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 14, MIM# 614424"],"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":null},{"gene_data":{"alias":["Dnahc9","KIAA0357","HL20","HL-20","DNAL1","DYH9"],"biotype":"protein_coding","hgnc_id":"HGNC:2953","gene_name":"dynein axonemal heavy chain 9","omim_gene":["603330"],"alias_name":null,"gene_symbol":"DNAH9","hgnc_symbol":"DNAH9","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:11501748-11873065","ensembl_id":"ENSG00000007174"}},"GRch38":{"90":{"location":"17:11598431-11969748","ensembl_id":"ENSG00000007174"}}},"hgnc_date_symbol_changed":"1997-02-05"},"entity_type":"gene","entity_name":"DNAH9","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30471717","30471718"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 40, MIM# 618300"],"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":null},{"gene_data":{"alias":["FLJ22167","ALYE870","PRO1886","JBTS20","MKS11"],"biotype":"protein_coding","hgnc_id":"HGNC:37234","gene_name":"transmembrane protein 231","omim_gene":["614949"],"alias_name":null,"gene_symbol":"TMEM231","hgnc_symbol":"TMEM231","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:75572015-75590184","ensembl_id":"ENSG00000205084"}},"GRch38":{"90":{"location":"16:75536744-75556286","ensembl_id":"ENSG00000205084"}}},"hgnc_date_symbol_changed":"2009-10-02"},"entity_type":"gene","entity_name":"TMEM231","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23012439","23349226","22179047","30617574","27449316","31663672","25869670"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 20, MIM# 614970","MONDO:0013994","Meckel syndrome 11, MIM# 615397","MONDO:0014164"],"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":null},{"gene_data":{"alias":["MGC13379","HSPC244","JBTS2"],"biotype":"protein_coding","hgnc_id":"HGNC:25018","gene_name":"transmembrane protein 216","omim_gene":["613277"],"alias_name":null,"gene_symbol":"TMEM216","hgnc_symbol":"TMEM216","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61159159-61166335","ensembl_id":"ENSG00000187049"}},"GRch38":{"90":{"location":"11:61391687-61398863","ensembl_id":"ENSG00000187049"}}},"hgnc_date_symbol_changed":"2008-06-10"},"entity_type":"gene","entity_name":"TMEM216","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20036350","20512146","39191256"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 2, MIM# 608091","MONDO:0011963","Meckel syndrome 2, MIM# 603194","MONDO:0011296","Retinitis pigmentosa, MONDO:0019200, TMEM216-related"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder","UTR"],"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":null},{"gene_data":{"alias":["MGC45714","VPH2","VMA12"],"biotype":"protein_coding","hgnc_id":"HGNC:18085","gene_name":"transmembrane protein 199","omim_gene":["616815"],"alias_name":null,"gene_symbol":"TMEM199","hgnc_symbol":"TMEM199","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:26684604-26708716","ensembl_id":"ENSG00000244045"}},"GRch38":{"90":{"location":"17:28357581-28363683","ensembl_id":"ENSG00000244045"}}},"hgnc_date_symbol_changed":"2007-12-17"},"entity_type":"gene","entity_name":"TMEM199","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26833330","29321044"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIp MIM# 616829"],"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":null},{"gene_data":{"alias":["FLJ38577","NET23","ERIS","MPYS","STING","MITA"],"biotype":"protein_coding","hgnc_id":"HGNC:27962","gene_name":"transmembrane protein 173","omim_gene":["612374"],"alias_name":["stimulator of interferon genes"],"gene_symbol":"TMEM173","hgnc_symbol":"TMEM173","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:138855119-138862520","ensembl_id":"ENSG00000184584"}},"GRch38":{"90":{"location":"5:139475534-139482935","ensembl_id":"ENSG00000184584"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"TMEM173","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25401470","25029335","32673614","36275728"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["STING-associated vasculopathy, infantile-onset, MIM# 615934"],"mode_of_inheritance":"BOTH monoallelic and 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":null},{"gene_data":{"alias":["TMPT27","TPARL","GDT1"],"biotype":"protein_coding","hgnc_id":"HGNC:30760","gene_name":"transmembrane protein 165","omim_gene":["614726"],"alias_name":["TPA regulated locus"],"gene_symbol":"TMEM165","hgnc_symbol":"TMEM165","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:56262124-56319564","ensembl_id":"ENSG00000134851"}},"GRch38":{"90":{"location":"4:55395957-55453397","ensembl_id":"ENSG00000134851"}}},"hgnc_date_symbol_changed":"2006-07-17"},"entity_type":"gene","entity_name":"TMEM165","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22683087","28323990","27401145","27008884","26238249","25609749"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type IIk, MIM# 614727","TMEM165-CDG, MONDO:0013870"],"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":null},{"gene_data":{"alias":["DIC1","PCD","CILD1"],"biotype":"protein_coding","hgnc_id":"HGNC:2954","gene_name":"dynein axonemal intermediate chain 1","omim_gene":["604366"],"alias_name":null,"gene_symbol":"DNAI1","hgnc_symbol":"DNAI1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:34457412-34520982","ensembl_id":"ENSG00000122735"}},"GRch38":{"90":{"location":"9:34457414-34520989","ensembl_id":"ENSG00000122735"}}},"hgnc_date_symbol_changed":"2000-06-16"},"entity_type":"gene","entity_name":"DNAI1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["10577904","11231901","32502479","31765523","30622330"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400"],"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":null},{"gene_data":{"alias":["HSPC196","JBTS16"],"biotype":"protein_coding","hgnc_id":"HGNC:26944","gene_name":"transmembrane protein 138","omim_gene":["614459"],"alias_name":null,"gene_symbol":"TMEM138","hgnc_symbol":"TMEM138","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:61129473-61136981","ensembl_id":"ENSG00000149483"}},"GRch38":{"90":{"location":"11:61362001-61369509","ensembl_id":"ENSG00000149483"}}},"hgnc_date_symbol_changed":"2006-03-15"},"entity_type":"gene","entity_name":"TMEM138","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22282472","28102635","27434533"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Joubert syndrome 16, MIM# 614465","MONDO:0013764"],"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":null},{"gene_data":{"alias":["FLJ20507","FLJ22257"],"biotype":"protein_coding","hgnc_id":"HGNC:26038","gene_name":"transmembrane protein 127","omim_gene":["613403"],"alias_name":null,"gene_symbol":"TMEM127","hgnc_symbol":"TMEM127","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:96914254-96931732","ensembl_id":"ENSG00000135956"}},"GRch38":{"90":{"location":"2:96248516-96265994","ensembl_id":"ENSG00000135956"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM127","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Pheochromocytoma, susceptibility to} 171300"],"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":null},{"gene_data":{"alias":["HT007"],"biotype":"protein_coding","hgnc_id":"HGNC:30883","gene_name":"transmembrane protein 126B","omim_gene":["615533"],"alias_name":null,"gene_symbol":"TMEM126B","hgnc_symbol":"TMEM126B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85339629-85347580","ensembl_id":"ENSG00000171204"}},"GRch38":{"90":{"location":"11:85628573-85636539","ensembl_id":"ENSG00000171204"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM126B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27374774","27374773"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250"],"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":null},{"gene_data":{"alias":["DKFZp586C1924","OPA7"],"biotype":"protein_coding","hgnc_id":"HGNC:25382","gene_name":"transmembrane protein 126A","omim_gene":["612988"],"alias_name":null,"gene_symbol":"TMEM126A","hgnc_symbol":"TMEM126A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:85359011-85367591","ensembl_id":"ENSG00000171202"}},"GRch38":{"90":{"location":"11:85647967-85656547","ensembl_id":"ENSG00000171202"}}},"hgnc_date_symbol_changed":"2006-02-13"},"entity_type":"gene","entity_name":"TMEM126A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19327736","20405026","22815638","33879611","31119195","30961538"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Optic atrophy 7, MIM# 612989","MONDO:0013069","Syndromic auditory neuropathy spectrum disorder"],"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":null},{"gene_data":{"alias":["CILD9","DIC2"],"biotype":"protein_coding","hgnc_id":"HGNC:18744","gene_name":"dynein axonemal intermediate chain 2","omim_gene":["605483"],"alias_name":["dynein intermediate chain 2"],"gene_symbol":"DNAI2","hgnc_symbol":"DNAI2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:72270386-72311023","ensembl_id":"ENSG00000171595"}},"GRch38":{"90":{"location":"17:74274247-74314884","ensembl_id":"ENSG00000171595"}}},"hgnc_date_symbol_changed":"2002-06-12"},"entity_type":"gene","entity_name":"DNAI2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18950741","23261302"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444"],"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":null},{"gene_data":{"alias":["MGC10744"],"biotype":"protein_coding","hgnc_id":"HGNC:28128","gene_name":"transmembrane protein 107","omim_gene":["616183"],"alias_name":null,"gene_symbol":"TMEM107","hgnc_symbol":"TMEM107","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:8076555-8079717","ensembl_id":"ENSG00000179029"}},"GRch38":{"90":{"location":"17:8173237-8176399","ensembl_id":"ENSG00000179029"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM107","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26518474","26595381","26123494"],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Meckel syndrome 13 (MIM#617562)","Orofaciodigital syndrome XVI (MIM#617563)","Joubert syndrome 29, MIM# 617562"],"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":null},{"gene_data":{"alias":["MGC33727","FLJ11273"],"biotype":"protein_coding","hgnc_id":"HGNC:22407","gene_name":"transmembrane protein 106B","omim_gene":["613413"],"alias_name":null,"gene_symbol":"TMEM106B","hgnc_symbol":"TMEM106B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:12250867-12282993","ensembl_id":"ENSG00000106460"}},"GRch38":{"90":{"location":"7:12211241-12243367","ensembl_id":"ENSG00000106460"}}},"hgnc_date_symbol_changed":"2005-12-19"},"entity_type":"gene","entity_name":"TMEM106B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29186371","29444210"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Leukodystrophy, hypomyelinating, 16, MIM# 617964"],"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":null},{"gene_data":{"alias":["HP10122"],"biotype":"protein_coding","hgnc_id":"HGNC:18188","gene_name":"transmembrane and coiled-coil domains 1","omim_gene":["614123"],"alias_name":null,"gene_symbol":"TMCO1","hgnc_symbol":"TMCO1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:165696032-165796992","ensembl_id":"ENSG00000143183"}},"GRch38":{"90":{"location":"1:165724293-165827755","ensembl_id":"ENSG00000143183"}}},"hgnc_date_symbol_changed":"2005-07-13"},"entity_type":"gene","entity_name":"TMCO1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20018682","23320496","17351359","30556256","31102500"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980"],"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":null},{"gene_data":{"alias":["EDJ","HEDJ","ERdj3"],"biotype":"protein_coding","hgnc_id":"HGNC:14889","gene_name":"DnaJ heat shock protein family (Hsp40) member B11","omim_gene":["611341"],"alias_name":null,"gene_symbol":"DNAJB11","hgnc_symbol":"DNAJB11","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186285192-186315061","ensembl_id":"ENSG00000090520"}},"GRch38":{"90":{"location":"3:186567403-186585800","ensembl_id":"ENSG00000090520"}}},"hgnc_date_symbol_changed":"2001-03-09"},"entity_type":"gene","entity_name":"DNAJB11","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061","Ivermark II syndrome."],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":null},{"gene_data":{"alias":["EVIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:20474","gene_name":"transmembrane channel like 8","omim_gene":["605829"],"alias_name":null,"gene_symbol":"TMC8","hgnc_symbol":"TMC8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76126851-76139049","ensembl_id":"ENSG00000167895"}},"GRch38":{"90":{"location":"17:78130770-78142968","ensembl_id":"ENSG00000167895"}}},"hgnc_date_symbol_changed":"2005-11-10"},"entity_type":"gene","entity_name":"TMC8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["34459021","28646613","12426567"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermodysplasia verruciformis 2, MIM# 618231"],"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":null},{"gene_data":{"alias":["LAK-4P","EVIN1"],"biotype":"protein_coding","hgnc_id":"HGNC:18021","gene_name":"transmembrane channel like 6","omim_gene":["605828"],"alias_name":null,"gene_symbol":"TMC6","hgnc_symbol":"TMC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:76106539-76128488","ensembl_id":"ENSG00000141524"}},"GRch38":{"90":{"location":"17:78110458-78132407","ensembl_id":"ENSG00000141524"}}},"hgnc_date_symbol_changed":"2005-11-10"},"entity_type":"gene","entity_name":"TMC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12426567","15042430"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Epidermodysplasia verruciformis, MIM# 226400"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:16513","gene_name":"transmembrane channel like 1","omim_gene":["606706"],"alias_name":null,"gene_symbol":"TMC1","hgnc_symbol":"TMC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:75136717-75451267","ensembl_id":"ENSG00000165091"}},"GRch38":{"90":{"location":"9:72521801-72836351","ensembl_id":"ENSG00000165091"}}},"hgnc_date_symbol_changed":"2001-10-08"},"entity_type":"gene","entity_name":"TMC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11850618","17250663","18616530","24827932","11850623","22105175"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Deafness, autosomal dominant 36, MIM# 606705","Deafness, autosomal recessive 7, MIM# 600974"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:15631","gene_name":"toll like receptor 7","omim_gene":["300365"],"alias_name":null,"gene_symbol":"TLR7","hgnc_symbol":"TLR7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:12885202-12908499","ensembl_id":"ENSG00000196664"}},"GRch38":{"90":{"location":"X:12867083-12890380","ensembl_id":"ENSG00000196664"}}},"hgnc_date_symbol_changed":"2001-04-27"},"entity_type":"gene","entity_name":"TLR7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["32706371","35477763"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051","Systemic lupus erythematosus 17, MIM# 301080"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","tags":[],"panel":{"id":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":null},{"gene_data":{"alias":["TIL3","FLJ10052","MGC126430","MGC126431"],"biotype":"protein_coding","hgnc_id":"HGNC:11851","gene_name":"toll like receptor 5","omim_gene":["603031"],"alias_name":["Toll/interleukin-1 receptor-like protein 3"],"gene_symbol":"TLR5","hgnc_symbol":"TLR5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:223282748-223316624","ensembl_id":"ENSG00000187554"}},"GRch38":{"90":{"location":"1:223109406-223143282","ensembl_id":"ENSG00000187554"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["TSARG6","RSPH16A"],"biotype":"protein_coding","hgnc_id":"HGNC:30718","gene_name":"DnaJ heat shock protein family (Hsp40) member B13","omim_gene":["610263"],"alias_name":["radial spoke 16 homolog A (Chlamydomonas)"],"gene_symbol":"DNAJB13","hgnc_symbol":"DNAJB13","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:73661364-73681411","ensembl_id":"ENSG00000187726"}},"GRch38":{"90":{"location":"11:73950319-73970366","ensembl_id":"ENSG00000187726"}}},"hgnc_date_symbol_changed":"2005-07-01"},"entity_type":"gene","entity_name":"DNAJB13","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27486783"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 34, MIM# 617091"],"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":null},{"gene_data":{"alias":["hToll","CD284","TLR-4","ARMD10"],"biotype":"protein_coding","hgnc_id":"HGNC:11850","gene_name":"toll like receptor 4","omim_gene":["603030"],"alias_name":null,"gene_symbol":"TLR4","hgnc_symbol":"TLR4","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:120466610-120479149","ensembl_id":"ENSG00000136869"}},"GRch38":{"90":{"location":"9:117704332-117716871","ensembl_id":"ENSG00000136869"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR4","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["32042729","31442584","31083239"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services","Victorian Clinical Genetics Services"],"phenotypes":["Inflammatory bowel disease MONDO:0005265"],"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":null},{"gene_data":{"alias":["CD283"],"biotype":"protein_coding","hgnc_id":"HGNC:11849","gene_name":"toll like receptor 3","omim_gene":["603029"],"alias_name":null,"gene_symbol":"TLR3","hgnc_symbol":"TLR3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:186990306-187009223","ensembl_id":"ENSG00000164342"}},"GRch38":{"90":{"location":"4:186069152-186088069","ensembl_id":"ENSG00000164342"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17872438","21911422","25339207","26513235","28368532","31217193","32936395"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 83, susceptibility to viral infections, MIM# 613002"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["TIL4","CD282"],"biotype":"protein_coding","hgnc_id":"HGNC:11848","gene_name":"toll like receptor 2","omim_gene":["603028"],"alias_name":null,"gene_symbol":"TLR2","hgnc_symbol":"TLR2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:154622652-154626851","ensembl_id":"ENSG00000137462"}},"GRch38":{"90":{"location":"4:153701500-153705699","ensembl_id":"ENSG00000137462"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR2","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["HSPF3","CMT2T"],"biotype":"protein_coding","hgnc_id":"HGNC:5228","gene_name":"DnaJ heat shock protein family (Hsp40) member B2","omim_gene":["604139"],"alias_name":null,"gene_symbol":"DNAJB2","hgnc_symbol":"DNAJB2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:220143989-220151622","ensembl_id":"ENSG00000135924"}},"GRch38":{"90":{"location":"2:219279267-219286900","ensembl_id":"ENSG00000135924"}}},"hgnc_date_symbol_changed":"1997-08-15"},"entity_type":"gene","entity_name":"DNAJB2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22522442","25274842","33369814","22522442"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)"],"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":null},{"gene_data":{"alias":["rsc786","KIAA0012","CD281"],"biotype":"protein_coding","hgnc_id":"HGNC:11847","gene_name":"toll like receptor 1","omim_gene":["601194"],"alias_name":null,"gene_symbol":"TLR1","hgnc_symbol":"TLR1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:38792298-38858438","ensembl_id":"ENSG00000174125"}},"GRch38":{"90":{"location":"4:38790677-38856817","ensembl_id":"ENSG00000174125"}}},"hgnc_date_symbol_changed":"1998-06-25"},"entity_type":"gene","entity_name":"TLR1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Leprosy, protection against} {Leprosy, susceptibility to, 5} MIM#613223"],"mode_of_inheritance":"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":"1.4749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11843","gene_name":"tolloid like 1","omim_gene":["606742"],"alias_name":null,"gene_symbol":"TLL1","hgnc_symbol":"TLL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:166794410-167025047","ensembl_id":"ENSG00000038295"}},"GRch38":{"90":{"location":"4:165873258-166103895","ensembl_id":"ENSG00000038295"}}},"hgnc_date_symbol_changed":"1997-10-16"},"entity_type":"gene","entity_name":"TLL1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18830233","30538173","27418595","31570783"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Atrial septal defect 6, MIM# 613087"],"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":null},{"gene_data":{"alias":["PKU-ALPHA","MGC44450"],"biotype":"protein_coding","hgnc_id":"HGNC:11842","gene_name":"tousled like kinase 2","omim_gene":["608439"],"alias_name":null,"gene_symbol":"TLK2","hgnc_symbol":"TLK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:60536019-60692842","ensembl_id":"ENSG00000146872"}},"GRch38":{"90":{"location":"17:62458658-62615481","ensembl_id":"ENSG00000146872"}}},"hgnc_date_symbol_changed":"2000-01-07"},"entity_type":"gene","entity_name":"TLK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29861108","29942082","27479843","23911319","30559488","29942082","31558842"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual disability, MIM 618050","Neurodevelopmental disease"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":null},{"gene_data":{"alias":["MRJ"],"biotype":"protein_coding","hgnc_id":"HGNC:14888","gene_name":"DnaJ heat shock protein family (Hsp40) member B6","omim_gene":["611332"],"alias_name":null,"gene_symbol":"DNAJB6","hgnc_symbol":"DNAJB6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:157128075-157210133","ensembl_id":"ENSG00000105993"}},"GRch38":{"90":{"location":"7:157335381-157417439","ensembl_id":"ENSG00000105993"}}},"hgnc_date_symbol_changed":"2001-03-09"},"entity_type":"gene","entity_name":"DNAJB6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26847086","26338452","24170373"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11834","gene_name":"transketolase","omim_gene":["606781"],"alias_name":["Wernicke-Korsakoff syndrome"],"gene_symbol":"TKT","hgnc_symbol":"TKT","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:53258723-53290068","ensembl_id":"ENSG00000163931"}},"GRch38":{"90":{"location":"3:53224707-53256052","ensembl_id":"ENSG00000163931"}}},"hgnc_date_symbol_changed":"1992-06-10"},"entity_type":"gene","entity_name":"TKT","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["27259054"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Short stature, developmental delay, and congenital heart defects","OMIM #617044"],"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":null},{"gene_data":{"alias":["SCA31"],"biotype":"protein_coding","hgnc_id":"HGNC:11831","gene_name":"thymidine kinase 2, mitochondrial","omim_gene":["188250"],"alias_name":null,"gene_symbol":"TK2","hgnc_symbol":"TK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:66541906-66586447","ensembl_id":"ENSG00000166548"}},"GRch38":{"90":{"location":"16:66508003-66552544","ensembl_id":"ENSG00000166548"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"TK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11687801","12391347","12873860","35286480","35280287","35094997"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560","Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3","MIM# 617069"],"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":null},{"gene_data":{"alias":["ZO-2","X104","ZO2"],"biotype":"protein_coding","hgnc_id":"HGNC:11828","gene_name":"tight junction protein 2","omim_gene":["607709"],"alias_name":["Friedreich ataxia region gene X104 (tight junction protein ZO-2)","zona occludens 2"],"gene_symbol":"TJP2","hgnc_symbol":"TJP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:71736209-71870124","ensembl_id":"ENSG00000119139"}},"GRch38":{"90":{"location":"9:69121264-69255208","ensembl_id":"ENSG00000119139"}}},"hgnc_date_symbol_changed":"1999-07-01"},"entity_type":"gene","entity_name":"TJP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24614073","25921221","31696999","12704386"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cholestasis, progressive familial intrahepatic 4, MIM# 615878","Hypercholanemia, familial 1, MIM# 607748"],"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":null},{"gene_data":{"alias":["Mal","wyatt"],"biotype":"protein_coding","hgnc_id":"HGNC:17192","gene_name":"TIR domain containing adaptor protein","omim_gene":["606252"],"alias_name":["MyD88 adapter-like"],"gene_symbol":"TIRAP","hgnc_symbol":"TIRAP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:126152960-126168740","ensembl_id":"ENSG00000150455"}},"GRch38":{"90":{"location":"11:126283065-126298845","ensembl_id":"ENSG00000150455"}}},"hgnc_date_symbol_changed":"2003-06-05"},"entity_type":"gene","entity_name":"TIRAP","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["TIN2"],"biotype":"protein_coding","hgnc_id":"HGNC:11824","gene_name":"TERF1 interacting nuclear factor 2","omim_gene":["604319"],"alias_name":null,"gene_symbol":"TINF2","hgnc_symbol":"TINF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:24708849-24711880","ensembl_id":"ENSG00000092330"}},"GRch38":{"90":{"location":"14:24239643-24242674","ensembl_id":"ENSG00000092330"}}},"hgnc_date_symbol_changed":"1999-11-19"},"entity_type":"gene","entity_name":"TINF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["18252230","21477109","18979121","18669893","21199492","33097095"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dyskeratosis congenita, autosomal dominant 3, MIM# 613990","Revesz syndrome, MIM# 268130"],"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":null},{"gene_data":{"alias":["JDP1"],"biotype":"protein_coding","hgnc_id":"HGNC:28908","gene_name":"DnaJ heat shock protein family (Hsp40) member C12","omim_gene":["606060"],"alias_name":["J domain protein 1"],"gene_symbol":"DNAJC12","hgnc_symbol":"DNAJC12","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"10:69556427-69597924","ensembl_id":"ENSG00000108176"}},"GRch38":{"90":{"location":"10:67796665-67838166","ensembl_id":"ENSG00000108176"}}},"hgnc_date_symbol_changed":"2004-04-15"},"entity_type":"gene","entity_name":"DNAJC12","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Expert Review","Victorian Clinical Genetics Services"],"phenotypes":["Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11822","gene_name":"TIMP metallopeptidase inhibitor 3","omim_gene":["188826"],"alias_name":null,"gene_symbol":"TIMP3","hgnc_symbol":"TIMP3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"22:33197687-33259030","ensembl_id":"ENSG00000100234"}},"GRch38":{"90":{"location":"22:32801701-32863043","ensembl_id":"ENSG00000100234"}}},"hgnc_date_symbol_changed":"1993-04-12"},"entity_type":"gene","entity_name":"TIMP3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7894485","10854443","32715858","32666594","31757977","31369189","30668888"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Sorsby fundus dystrophy, MIM# 136900"],"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":null},{"gene_data":{"alias":["DDP","MTS"],"biotype":"protein_coding","hgnc_id":"HGNC:11817","gene_name":"translocase of inner mitochondrial membrane 8A","omim_gene":["300356"],"alias_name":null,"gene_symbol":"TIMM8A","hgnc_symbol":"TIMM8A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"X:100600649-100604184","ensembl_id":"ENSG00000126953"}},"GRch38":{"90":{"location":"X:101345661-101349196","ensembl_id":"ENSG00000126953"}}},"hgnc_date_symbol_changed":"1999-12-01"},"entity_type":"gene","entity_name":"TIMM8A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["11803487","11405816","32820032"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Mohr-Tranebjaerg syndrome, MIM# 304700"],"mode_of_inheritance":"X-LINKED: hemizygous mutation in males, biallelic mutations in females","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":null},{"gene_data":{"alias":["TIM50L"],"biotype":"protein_coding","hgnc_id":"HGNC:23656","gene_name":"translocase of inner mitochondrial membrane 50","omim_gene":["607381"],"alias_name":null,"gene_symbol":"TIMM50","hgnc_symbol":"TIMM50","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:39971052-39984422","ensembl_id":"ENSG00000105197"}},"GRch38":{"90":{"location":"19:39480412-39493785","ensembl_id":"ENSG00000105197"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"TIMM50","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["27573165","32369862","30190335","31058414"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["3-methylglutaconic aciduria, type IX, MIM# 617698"],"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":null},{"gene_data":{"alias":["TIM44"],"biotype":"protein_coding","hgnc_id":"HGNC:17316","gene_name":"translocase of inner mitochondrial membrane 44","omim_gene":["605058"],"alias_name":null,"gene_symbol":"TIMM44","hgnc_symbol":"TIMM44","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:7991603-8008805","ensembl_id":"ENSG00000104980"}},"GRch38":{"90":{"location":"19:7926718-7943920","ensembl_id":"ENSG00000104980"}}},"hgnc_date_symbol_changed":"2002-01-15"},"entity_type":"gene","entity_name":"TIMM44","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["TIMM14","Tim14","Pam18"],"biotype":"protein_coding","hgnc_id":"HGNC:30528","gene_name":"DnaJ heat shock protein family (Hsp40) member C19","omim_gene":["608977"],"alias_name":null,"gene_symbol":"DNAJC19","hgnc_symbol":"DNAJC19","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:180701497-180707562","ensembl_id":"ENSG00000205981"}},"GRch38":{"90":{"location":"3:180983709-180989774","ensembl_id":"ENSG00000205981"}}},"hgnc_date_symbol_changed":"2005-07-28"},"entity_type":"gene","entity_name":"DNAJC19","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16055927","17244376","22797137"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["3-methylglutaconic aciduria, type V MIM#610198"],"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":null},{"gene_data":{"alias":["TRIF","TICAM-1","MGC35334","PRVTIRB"],"biotype":"protein_coding","hgnc_id":"HGNC:18348","gene_name":"toll like receptor adaptor molecule 1","omim_gene":["607601"],"alias_name":["TIR domain-containing adapter molecule 1"],"gene_symbol":"TICAM1","hgnc_symbol":"TICAM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:4815944-4831716","ensembl_id":"ENSG00000127666"}},"GRch38":{"90":{"location":"19:4815932-4831704","ensembl_id":"ENSG00000127666"}}},"hgnc_date_symbol_changed":"2005-06-27"},"entity_type":"gene","entity_name":"TICAM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22105173","26513235"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:11802","gene_name":"TIA1 cytotoxic granule associated RNA binding protein","omim_gene":["603518"],"alias_name":["T-cell-restricted intracellular antigen-1","nucleolysin TIA-1 isoform p40"],"gene_symbol":"TIA1","hgnc_symbol":"TIA1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:70436576-70475792","ensembl_id":"ENSG00000116001"}},"GRch38":{"90":{"location":"2:70209444-70248660","ensembl_id":"ENSG00000116001"}}},"hgnc_date_symbol_changed":"1995-11-01"},"entity_type":"gene","entity_name":"TIA1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["29235362","29886022","29773329","29699721","29216908","24659297","29457785","28817800","23401021","23401021"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133","Welander distal myopathy (MIM#604454)"],"mode_of_inheritance":"BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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":null},{"gene_data":{"alias":["GS3","DNAJA5","JJJ1"],"biotype":"protein_coding","hgnc_id":"HGNC:27030","gene_name":"DnaJ heat shock protein family (Hsp40) member C21","omim_gene":["617048"],"alias_name":["JJJ1 DnaJ domain protein homolog (S. cerevisiae)"],"gene_symbol":"DNAJC21","hgnc_symbol":"DNAJC21","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:34929698-34959069","ensembl_id":"ENSG00000168724"}},"GRch38":{"90":{"location":"5:34929593-34958964","ensembl_id":"ENSG00000168724"}}},"hgnc_date_symbol_changed":"2007-11-19"},"entity_type":"gene","entity_name":"DNAJC21","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29700810","28062395","27346687"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Bone marrow failure syndrome 3 - MIM#617052"],"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":null},{"gene_data":{"alias":["P58","P58IPK","HP58","ERdj6"],"biotype":"protein_coding","hgnc_id":"HGNC:9439","gene_name":"DnaJ heat shock protein family (Hsp40) member C3","omim_gene":["601184"],"alias_name":["interferon-induced, double-stranded RNA-activated protein kinase inhibitor","protein kinase inhibitor of 58 kDa","endoplasmic reticulum DNA J domain-containing protein 6"],"gene_symbol":"DNAJC3","hgnc_symbol":"DNAJC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"13:96329393-96447243","ensembl_id":"ENSG00000102580"}},"GRch38":{"90":{"location":"13:95677139-95794989","ensembl_id":"ENSG00000102580"}}},"hgnc_date_symbol_changed":"1995-09-20"},"entity_type":"gene","entity_name":"DNAJC3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["33486469","34630333","34654017","32738013"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192"],"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":null},{"gene_data":{"alias":["FLJ00118","FLJ13070","DNAJC5A"],"biotype":"protein_coding","hgnc_id":"HGNC:16235","gene_name":"DnaJ heat shock protein family (Hsp40) member C5","omim_gene":["611203"],"alias_name":null,"gene_symbol":"DNAJC5","hgnc_symbol":"DNAJC5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:62526518-62567384","ensembl_id":"ENSG00000101152"}},"GRch38":{"90":{"location":"20:63895182-63936031","ensembl_id":"ENSG00000101152"}}},"hgnc_date_symbol_changed":"2001-07-17"},"entity_type":"gene","entity_name":"DNAJC5","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22978711","21820099","22235333","31919451","26659577"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083"],"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":null},{"gene_data":{"alias":["KIAA0473","PARK19"],"biotype":"protein_coding","hgnc_id":"HGNC:15469","gene_name":"DnaJ heat shock protein family (Hsp40) member C6","omim_gene":["608375"],"alias_name":["auxilin"],"gene_symbol":"DNAJC6","hgnc_symbol":"DNAJC6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:65713902-65881552","ensembl_id":"ENSG00000116675"}},"GRch38":{"90":{"location":"1:65248219-65415869","ensembl_id":"ENSG00000116675"}}},"hgnc_date_symbol_changed":"2001-03-30"},"entity_type":"gene","entity_name":"DNAJC6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22563501, 23211418, 26528954, 33983693"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Parkinson disease 19a, juvenile-onset - MIM#615528","Parkinson disease 19b, early-onset - MIM#615528"],"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":null},{"gene_data":{"alias":["MGC12435","1700010H15RiK","CILD16"],"biotype":"protein_coding","hgnc_id":"HGNC:23247","gene_name":"dynein axonemal light chain 1","omim_gene":["610062"],"alias_name":null,"gene_symbol":"DNAL1","hgnc_symbol":"DNAL1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:74111578-74170435","ensembl_id":"ENSG00000119661"}},"GRch38":{"90":{"location":"14:73644875-73703732","ensembl_id":"ENSG00000119661"}}},"hgnc_date_symbol_changed":"2006-09-04"},"entity_type":"gene","entity_name":"DNAL1","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["21496787"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 16, MIM# 614017"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["founder"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2956","gene_name":"deoxyribonuclease 1","omim_gene":["125505"],"alias_name":null,"gene_symbol":"DNASE1","hgnc_symbol":"DNASE1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:3661729-3730144","ensembl_id":"ENSG00000213918"}},"GRch38":{"90":{"location":"16:3611728-3680143","ensembl_id":"ENSG00000213918"}}},"hgnc_date_symbol_changed":"1992-07-08"},"entity_type":"gene","entity_name":"DNASE1","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Systemic lupus erythematosus, susceptibility to} - MIM#152700"],"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":null},{"gene_data":{"alias":["DNAS1L3","LSD"],"biotype":"protein_coding","hgnc_id":"HGNC:2959","gene_name":"deoxyribonuclease 1 like 3","omim_gene":["602244"],"alias_name":["DNase gamma"],"gene_symbol":"DNASE1L3","hgnc_symbol":"DNASE1L3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:58177984-58200424","ensembl_id":"ENSG00000163687"}},"GRch38":{"90":{"location":"3:58192257-58214697","ensembl_id":"ENSG00000163687"}}},"hgnc_date_symbol_changed":"1997-05-15"},"entity_type":"gene","entity_name":"DNASE1L3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30008451","22019780","27821515"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Systemic lupus erythematosus 16 - MIM#614420"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2972","gene_name":"dynamin 1","omim_gene":["602377"],"alias_name":null,"gene_symbol":"DNM1","hgnc_symbol":"DNM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130965658-131017527","ensembl_id":"ENSG00000106976"}},"GRch38":{"90":{"location":"9:128191655-128255248","ensembl_id":"ENSG00000106976"}}},"hgnc_date_symbol_changed":"1992-07-09"},"entity_type":"gene","entity_name":"DNM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25262651","27066543","33372033","34172529","36553519","37900685"],"evidence":["Literature","Expert Review Green"],"phenotypes":["Developmental and epileptic encephalopathy 31A, autosomal dominant, MIM# 616346","Developmental and epileptic encephalopathy 31B, autosomal recessive, MIM# 620352"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["DRP1","DVLP","HDYNIV","DYMPLE","VPS1"],"biotype":"protein_coding","hgnc_id":"HGNC:2973","gene_name":"dynamin 1 like","omim_gene":["603850"],"alias_name":null,"gene_symbol":"DNM1L","hgnc_symbol":"DNM1L","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:32832134-32898486","ensembl_id":"ENSG00000087470"}},"GRch38":{"90":{"location":"12:32679200-32745650","ensembl_id":"ENSG00000087470"}}},"hgnc_date_symbol_changed":"2000-04-12"},"entity_type":"gene","entity_name":"DNM1L","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748, 28969390, 30850373, 17460227"],"evidence":["ClinGen","Literature","Expert Review Green"],"phenotypes":["Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726","Optic atrophy 5 - MIM#610708 (AD)"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["DYNII","DYN2","CMTDIB","CMTDI1","DI-CMTB","CMT2M"],"biotype":"protein_coding","hgnc_id":"HGNC:2974","gene_name":"dynamin 2","omim_gene":["602378"],"alias_name":["dynamin II","cytoskeletal protein"],"gene_symbol":"DNM2","hgnc_symbol":"DNM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10828755-10944164","ensembl_id":"ENSG00000079805"}},"GRch38":{"90":{"location":"19:10718079-10833488","ensembl_id":"ENSG00000079805"}}},"hgnc_date_symbol_changed":"1996-10-11"},"entity_type":"gene","entity_name":"DNM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["15731758","17636067","33459893","31628461","23092955","16227997","33458580","30232666","24465259","23938035"],"evidence":["Expert list","Expert Review Green"],"phenotypes":["Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482","Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482","MONDO:0011674","Autosomal dominant centronuclear myopathy MONDO:0008048","Lethal congenital contracture syndrome 5, MIM# 615368"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["MCMT","CXXC9"],"biotype":"protein_coding","hgnc_id":"HGNC:2976","gene_name":"DNA methyltransferase 1","omim_gene":["126375"],"alias_name":null,"gene_symbol":"DNMT1","hgnc_symbol":"DNMT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:10244021-10341962","ensembl_id":"ENSG00000130816"}},"GRch38":{"90":{"location":"19:10133345-10231286","ensembl_id":"ENSG00000130816"}}},"hgnc_date_symbol_changed":"1991-06-04"},"entity_type":"gene","entity_name":"DNMT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424"],"evidence":["Literature","ClinGen","Expert Review Green"],"phenotypes":["Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2978","gene_name":"DNA methyltransferase 3 alpha","omim_gene":["602769"],"alias_name":null,"gene_symbol":"DNMT3A","hgnc_symbol":"DNMT3A","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:25455845-25565459","ensembl_id":"ENSG00000119772"}},"GRch38":{"90":{"location":"2:25227855-25342590","ensembl_id":"ENSG00000119772"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3A","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["30478443","24614070"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Tatton-Brown-Rahman syndrome, MIM# 615879","Heyn-Sproul-Jackson syndrome, MIM# 618724"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:2979","gene_name":"DNA methyltransferase 3 beta","omim_gene":["602900"],"alias_name":null,"gene_symbol":"DNMT3B","hgnc_symbol":"DNMT3B","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:31350191-31397162","ensembl_id":"ENSG00000088305"}},"GRch38":{"90":{"location":"20:32762385-32809356","ensembl_id":"ENSG00000088305"}}},"hgnc_date_symbol_changed":"1998-07-15"},"entity_type":"gene","entity_name":"DNMT3B","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["20587527","10555141","17359920","9718351","10647011","11102980","12239717"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860","facial dysmorphic features","flat nasal bridge","developmental delay","macroglossia","bacterial/opportunistic infections (recurrent)","malabsorption","cytopaenia","malignancies","multiradial configurations of chromosomes 1, 9, 16","Hypogammaglobulinaemia","agammaglobulinaemia","variable antibody deficiency","decreased immunoglobulin production","low T/B/NK cells"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["KIAA0209"],"biotype":"protein_coding","hgnc_id":"HGNC:2988","gene_name":"dedicator of cytokinesis 2","omim_gene":["603122"],"alias_name":null,"gene_symbol":"DOCK2","hgnc_symbol":"DOCK2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"5:169064251-169510386","ensembl_id":"ENSG00000134516"}},"GRch38":{"90":{"location":"5:169637247-170083382","ensembl_id":"ENSG00000134516"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26083206","29204803","33928462","30826364","30838481","11518968","41654261","36836791"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Immunodeficiency 40 MIM# 616433","Inborn error of immunity, MONDO:0003778, DOCK2-related"],"mode_of_inheritance":"BOTH monoallelic and biallelic, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["KIAA0299","MOCA","PBP"],"biotype":"protein_coding","hgnc_id":"HGNC:2989","gene_name":"dedicator of cytokinesis 3","omim_gene":["603123"],"alias_name":null,"gene_symbol":"DOCK3","hgnc_symbol":"DOCK3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:50712672-51421629","ensembl_id":"ENSG00000088538"}},"GRch38":{"90":{"location":"3:50675241-51384198","ensembl_id":"ENSG00000088538"}}},"hgnc_date_symbol_changed":"1998-05-13"},"entity_type":"gene","entity_name":"DOCK3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28195318","29130632","30976111"],"evidence":["Expert Review Green","Expert list","Victorian Clinical Genetics Services"],"phenotypes":["Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292"],"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":null},{"gene_data":{"alias":["KIAA1395","ZIR1"],"biotype":"protein_coding","hgnc_id":"HGNC:19189","gene_name":"dedicator of cytokinesis 6","omim_gene":["614194"],"alias_name":null,"gene_symbol":"DOCK6","hgnc_symbol":"DOCK6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:11309971-11373157","ensembl_id":"ENSG00000130158"}},"GRch38":{"90":{"location":"19:11199295-11262481","ensembl_id":"ENSG00000130158"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK6","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21820096","23522784","25132448","25824905"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Adams-Oliver syndrome 2, MIM#614219"],"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":null},{"gene_data":{"alias":["KIAA1771","ZIR2"],"biotype":"protein_coding","hgnc_id":"HGNC:19190","gene_name":"dedicator of cytokinesis 7","omim_gene":["615730"],"alias_name":null,"gene_symbol":"DOCK7","hgnc_symbol":"DOCK7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:62920399-63153969","ensembl_id":"ENSG00000116641"}},"GRch38":{"90":{"location":"1:62454298-62688368","ensembl_id":"ENSG00000116641"}}},"hgnc_date_symbol_changed":"2003-11-19"},"entity_type":"gene","entity_name":"DOCK7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["24814191","30771731","30807358"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental and epileptic encephalopathy 23 MIM#615859","MONDO:0014371"],"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":null},{"gene_data":{"alias":["FLJ00026","FLJ00152","ZIR8","FLJ00346"],"biotype":"protein_coding","hgnc_id":"HGNC:19191","gene_name":"dedicator of cytokinesis 8","omim_gene":["611432"],"alias_name":null,"gene_symbol":"DOCK8","hgnc_symbol":"DOCK8","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}},"GRch38":{"90":{"location":"9:214854-465259","ensembl_id":"ENSG00000107099"}}},"hgnc_date_symbol_changed":"2003-12-02"},"entity_type":"gene","entity_name":"DOCK8","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["19776401","20622910","21931011","26659092","19898472","25422492"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700","T cell Lymphopaenia","decraese T/B/NK cells","Eosinophilia","low IgM","elevated IgE","recurrent cutaneous/ viral/ bacterial/ fungal/ infections","severe atopy/allergic disease","autoimmune haemolytic anaemia","eczema","cancer diathesis"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["treatable"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":["FLJ33718","FLJ39137","Dok-7"],"biotype":"protein_coding","hgnc_id":"HGNC:26594","gene_name":"docking protein 7","omim_gene":["610285"],"alias_name":null,"gene_symbol":"DOK7","hgnc_symbol":"DOK7","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:3465033-3503200","ensembl_id":"ENSG00000175920"}},"GRch38":{"90":{"location":"4:3463311-3494483","ensembl_id":"ENSG00000175920"}}},"hgnc_date_symbol_changed":"2006-08-24"},"entity_type":"gene","entity_name":"DOK7","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["16917026","18626973","20147321","16794080","31453852","29395672","32360404","19261599","31880392"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Myasthenic syndrome, congenital, 10, MIM# 254300","Fetal akinesia deformation sequence 3, MIM# 618389"],"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":null},{"gene_data":{"alias":["KIAA1094","DK1"],"biotype":"protein_coding","hgnc_id":"HGNC:23406","gene_name":"dolichol kinase","omim_gene":["610746"],"alias_name":["dolichol kinase 1"],"gene_symbol":"DOLK","hgnc_symbol":"DOLK","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:131707809-131709898","ensembl_id":"ENSG00000175283"}},"GRch38":{"90":{"location":"9:128945530-128947619","ensembl_id":"ENSG00000175283"}}},"hgnc_date_symbol_changed":"2007-02-09"},"entity_type":"gene","entity_name":"DOLK","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17273964","22242004","23890587","30653653","28816422","24144945"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["DK1-CDG, MONDO:0012556","Congenital disorder of glycosylation, type Im, MIM# 610768"],"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":null},{"gene_data":{"alias":["B17","C2TA","DKFZP434M035"],"biotype":"protein_coding","hgnc_id":"HGNC:2993","gene_name":"downstream neighbor of SON","omim_gene":["611428"],"alias_name":null,"gene_symbol":"DONSON","hgnc_symbol":"DONSON","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"21:34931848-34961014","ensembl_id":"ENSG00000159147"}},"GRch38":{"90":{"location":"21:33559542-33588708","ensembl_id":"ENSG00000159147"}}},"hgnc_date_symbol_changed":"2000-02-18"},"entity_type":"gene","entity_name":"DONSON","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["28191891","28630177","28191891"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Microcephaly, short stature, and limb abnormalities, MIM# 617604","Microcephaly-micromelia syndrome, MIM# 251230","MONDO:0009619","Meier-Gorlin syndrome 10, MIM# 621528"],"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":null},{"gene_data":{"alias":["GPT","D11S366","DGPT","ALG7","CDG-Ij"],"biotype":"protein_coding","hgnc_id":"HGNC:2995","gene_name":"dolichyl-phosphate N-acetylglucosaminephosphotransferase 1","omim_gene":["191350"],"alias_name":["GlcNAc-1-P transferase 1","UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase 1"],"gene_symbol":"DPAGT1","hgnc_symbol":"DPAGT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:118967213-118979041","ensembl_id":"ENSG00000172269"}},"GRch38":{"90":{"location":"11:119096503-119108331","ensembl_id":"ENSG00000172269"}}},"hgnc_date_symbol_changed":"1993-12-13"},"entity_type":"gene","entity_name":"DPAGT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12872255","22492991","22304930","31153949","30653653","30117111","22742743","29356258","28712839","28662078"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ij, MIM# 608093","DPAGT1-CDG MONDO:0011964","Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750"],"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":null},{"gene_data":{"alias":["ubi-d4","BAF45d"],"biotype":"protein_coding","hgnc_id":"HGNC:9964","gene_name":"double PHD fingers 2","omim_gene":["601671"],"alias_name":null,"gene_symbol":"DPF2","hgnc_symbol":"DPF2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65101225-65120720","ensembl_id":"ENSG00000133884"}},"GRch38":{"90":{"location":"11:65333754-65353249","ensembl_id":"ENSG00000133884"}}},"hgnc_date_symbol_changed":"2003-10-08"},"entity_type":"gene","entity_name":"DPF2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29429572","31706665"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Coffin-Siris syndrome 7, MIM#618027"],"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":null},{"gene_data":{"alias":["OVCA1"],"biotype":"protein_coding","hgnc_id":"HGNC:3003","gene_name":"diphthamide biosynthesis 1","omim_gene":["603527"],"alias_name":["ovarian tumor suppressor candidate 1"],"gene_symbol":"DPH1","hgnc_symbol":"DPH1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"17:1933404-1946724","ensembl_id":"ENSG00000108963"}},"GRch38":{"90":{"location":"17:2030110-2043430","ensembl_id":"ENSG00000108963"}}},"hgnc_date_symbol_changed":"2005-06-03"},"entity_type":"gene","entity_name":"DPH1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29362492","29410513","25558065","26220823"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM# 616901"],"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":null},{"gene_data":{"alias":["MPDS","CDGIE"],"biotype":"protein_coding","hgnc_id":"HGNC:3005","gene_name":"dolichyl-phosphate mannosyltransferase subunit 1, catalytic","omim_gene":["603503"],"alias_name":["DPM synthase complex, catalytic subunit"],"gene_symbol":"DPM1","hgnc_symbol":"DPM1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"20:49551404-49575092","ensembl_id":"ENSG00000000419"}},"GRch38":{"90":{"location":"20:50934867-50958555","ensembl_id":"ENSG00000000419"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23856421"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Ie, 608799"],"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":null},{"gene_data":{"alias":["MGC21559","MGC111193"],"biotype":"protein_coding","hgnc_id":"HGNC:3006","gene_name":"dolichyl-phosphate mannosyltransferase subunit 2, regulatory","omim_gene":["603564"],"alias_name":["DPM synthase complex subunit"],"gene_symbol":"DPM2","hgnc_symbol":"DPM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"9:130697378-130700763","ensembl_id":"ENSG00000136908"}},"GRch38":{"90":{"location":"9:127935099-127938484","ensembl_id":"ENSG00000136908"}}},"hgnc_date_symbol_changed":"1999-02-23"},"entity_type":"gene","entity_name":"DPM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["23109149","33129689"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Congenital disorder of glycosylation, type Iu, MIM# 615042"],"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":null},{"gene_data":{"alias":["MGC34275","MGC125904","MGC125905"],"biotype":"protein_coding","hgnc_id":"HGNC:3007","gene_name":"dolichyl-phosphate mannosyltransferase subunit 3","omim_gene":["605951"],"alias_name":["DPM synthase complex subunit"],"gene_symbol":"DPM3","hgnc_symbol":"DPM3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:155112367-155113071","ensembl_id":"ENSG00000179085"}},"GRch38":{"90":{"location":"1:155139891-155140595","ensembl_id":"ENSG00000179085"}}},"hgnc_date_symbol_changed":"2000-06-29"},"entity_type":"gene","entity_name":"DPM3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31266720","28803818","19576565","31266720","31469168"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937","Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992"],"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":null},{"gene_data":{"alias":["DPRP3","DPL2","DPPY"],"biotype":"protein_coding","hgnc_id":"HGNC:20823","gene_name":"dipeptidyl peptidase like 10","omim_gene":["608209"],"alias_name":null,"gene_symbol":"DPP10","hgnc_symbol":"DPP10","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:115199876-116603328","ensembl_id":"ENSG00000175497"}},"GRch38":{"90":{"location":"2:114442299-115845752","ensembl_id":"ENSG00000175497"}}},"hgnc_date_symbol_changed":"2003-06-19"},"entity_type":"gene","entity_name":"DPP10","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["DPPX","DPL1"],"biotype":"protein_coding","hgnc_id":"HGNC:3010","gene_name":"dipeptidyl peptidase like 6","omim_gene":["126141"],"alias_name":null,"gene_symbol":"DPP6","hgnc_symbol":"DPP6","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:153584182-154685995","ensembl_id":"ENSG00000130226"}},"GRch38":{"90":{"location":"7:153887097-154894285","ensembl_id":"ENSG00000130226"}}},"hgnc_date_symbol_changed":"1993-02-11"},"entity_type":"gene","entity_name":"DPP6","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["23832105"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["Intellectual disability, autosomal dominant 33 (MIM#616311)"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":["SV/CNV","disputed"],"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":null},{"gene_data":{"alias":["FLJ32949","SPATA34"],"biotype":"protein_coding","hgnc_id":"HGNC:19414","gene_name":"dpy-19 like 2","omim_gene":["613893"],"alias_name":["spermatogenesis associated 34"],"gene_symbol":"DPY19L2","hgnc_symbol":"DPY19L2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:63952693-64062719","ensembl_id":"ENSG00000177990"}},"GRch38":{"90":{"location":"12:63558913-63668939","ensembl_id":"ENSG00000177990"}}},"hgnc_date_symbol_changed":"2005-07-19"},"entity_type":"gene","entity_name":"DPY19L2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["21397063","22653751","33108537"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Spermatogenic failure 9 - MIM#613958"],"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":null},{"gene_data":{"alias":["DPD"],"biotype":"protein_coding","hgnc_id":"HGNC:3012","gene_name":"dihydropyrimidine dehydrogenase","omim_gene":["612779"],"alias_name":null,"gene_symbol":"DPYD","hgnc_symbol":"DPYD","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:97543299-98386605","ensembl_id":"ENSG00000188641"}},"GRch38":{"90":{"location":"1:97077743-97921049","ensembl_id":"ENSG00000188641"}}},"hgnc_date_symbol_changed":"1994-07-07"},"entity_type":"gene","entity_name":"DPYD","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["29152729"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["5-fluorouracil toxicity 274270","Dihydropyrimidine dehydrogenase deficiency 274270"],"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":null},{"gene_data":{"alias":["DHPase"],"biotype":"protein_coding","hgnc_id":"HGNC:3013","gene_name":"dihydropyrimidinase","omim_gene":["613326"],"alias_name":null,"gene_symbol":"DPYS","hgnc_symbol":"DPYS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:105342552-105479281","ensembl_id":"ENSG00000147647"}},"GRch38":{"90":{"location":"8:104330324-104467053","ensembl_id":"ENSG00000147647"}}},"hgnc_date_symbol_changed":"1997-02-27"},"entity_type":"gene","entity_name":"DPYS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["9718352","38199782"],"evidence":["Expert Review Green","NHS GMS","Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Dihydropyrimidinuria, MIM#222748"],"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":null},{"gene_data":{"alias":["MGC54289","PRO180","WWFQ154","RP5-1180E21.1"],"biotype":"protein_coding","hgnc_id":"HGNC:28769","gene_name":"DNA damage regulated autophagy modulator 2","omim_gene":["613360"],"alias_name":null,"gene_symbol":"DRAM2","hgnc_symbol":"DRAM2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"1:111659955-111682838","ensembl_id":"ENSG00000156171"}},"GRch38":{"90":{"location":"1:111117333-111140216","ensembl_id":"ENSG00000156171"}}},"hgnc_date_symbol_changed":"2009-06-12"},"entity_type":"gene","entity_name":"DRAM2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["25983245","29555955","31394102"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Cone-rod dystrophy 21 - MIM#616502"],"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":null},{"gene_data":{"alias":["MGC16372","FLJ32660","CILD21"],"biotype":"protein_coding","hgnc_id":"HGNC:24245","gene_name":"dynein regulatory complex subunit 1","omim_gene":["615288"],"alias_name":null,"gene_symbol":"DRC1","hgnc_symbol":"DRC1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"2:26624784-26679579","ensembl_id":"ENSG00000157856"}},"GRch38":{"90":{"location":"2:26401916-26456711","ensembl_id":"ENSG00000157856"}}},"hgnc_date_symbol_changed":"2013-03-14"},"entity_type":"gene","entity_name":"DRC1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["31960620","34169321"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Ciliary dyskinesia, primary, 21, MIM# 615294","Spermatogenic failure 80, MIM# 620222"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":["SV/CNV"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","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":[],"biotype":"protein_coding","hgnc_id":"HGNC:3023","gene_name":"dopamine receptor D2","omim_gene":["126450"],"alias_name":null,"gene_symbol":"DRD2","hgnc_symbol":"DRD2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:113280318-113346413","ensembl_id":"ENSG00000149295"}},"GRch38":{"90":{"location":"11:113409615-113475691","ensembl_id":"ENSG00000149295"}}},"hgnc_date_symbol_changed":"1989-02-23"},"entity_type":"gene","entity_name":"DRD2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Other","publications":["38643909","34145635","33974399","33200438","36456191"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Combined dystonia, MONDO:0020065, DRD2-related","dystonia","chorea","anxiety","ataxia","orofacial dyskinesia","tremor","memory problems"],"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":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:3024","gene_name":"dopamine receptor D3","omim_gene":["126451"],"alias_name":null,"gene_symbol":"DRD3","hgnc_symbol":"DRD3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:113847499-113918254","ensembl_id":"ENSG00000151577"}},"GRch38":{"90":{"location":"3:114128652-114199407","ensembl_id":"ENSG00000151577"}}},"hgnc_date_symbol_changed":"1991-05-06"},"entity_type":"gene","entity_name":"DRD3","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["16650084","16809426","17339592","1362221","8411064","8225313"],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["{Essential tremor, hereditary, 1} - MIM#190300","{Schizophrenia, susceptibility to} - MIM#181500"],"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":null},{"gene_data":{"alias":["DRD1B"],"biotype":"protein_coding","hgnc_id":"HGNC:3026","gene_name":"dopamine receptor D5","omim_gene":["126453"],"alias_name":null,"gene_symbol":"DRD5","hgnc_symbol":"DRD5","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:9783258-9785632","ensembl_id":"ENSG00000169676"}},"GRch38":{"90":{"location":"4:9781680-9784009","ensembl_id":"ENSG00000169676"}}},"hgnc_date_symbol_changed":"1991-06-05"},"entity_type":"gene","entity_name":"DRD5","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"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":"1.4749","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":["CDHF3","DSC","DSC1","DSC2"],"biotype":"protein_coding","hgnc_id":"HGNC:3037","gene_name":"desmocollin 3","omim_gene":["600271"],"alias_name":null,"gene_symbol":"DSC3","hgnc_symbol":"DSC3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"18:28569974-28622781","ensembl_id":"ENSG00000134762"}},"GRch38":{"90":{"location":"18:30990008-31042815","ensembl_id":"ENSG00000134762"}}},"hgnc_date_symbol_changed":"1991-03-04"},"entity_type":"gene","entity_name":"DSC3","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["19765682","31790667","18682494"],"evidence":["Expert Review Amber","NHS GMS","Victorian Clinical Genetics Services"],"phenotypes":["Hypotrichosis and recurrent skin vesicles MIM#613102"],"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":null}]}