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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:11608","gene_name":"thromboxane A2 receptor","omim_gene":["188070"],"alias_name":null,"gene_symbol":"TBXA2R","hgnc_symbol":"TBXA2R","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"19:3594504-3606838","ensembl_id":"ENSG00000006638"}},"GRch38":{"90":{"location":"19:3594506-3606840","ensembl_id":"ENSG00000006638"}}},"hgnc_date_symbol_changed":"1991-08-08"},"entity_type":"gene","entity_name":"TBXA2R","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["7929844","19828703","22517902"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["{Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["AU"],"biotype":"protein_coding","hgnc_id":"HGNC:5172","gene_name":"HR, lysine demethylase and nuclear receptor corepressor","omim_gene":["602302"],"alias_name":null,"gene_symbol":"HR","hgnc_symbol":"HR","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"8:21971928-21990897","ensembl_id":"ENSG00000168453"}},"GRch38":{"90":{"location":"8:22114415-22133384","ensembl_id":"ENSG00000168453"}}},"hgnc_date_symbol_changed":"1995-07-11"},"entity_type":"gene","entity_name":"HR","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Alopecia universalis MIM#203655","Atrichia with papular lesions MIM#209500"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:5173","gene_name":"HRas proto-oncogene, GTPase","omim_gene":["190020"],"alias_name":null,"gene_symbol":"HRAS","hgnc_symbol":"HRAS","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}},"GRch38":{"90":{"location":"11:532242-537287","ensembl_id":"ENSG00000174775"}}},"hgnc_date_symbol_changed":"2001-06-22"},"entity_type":"gene","entity_name":"HRAS","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","publications":["16329078","16372351","16443854"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Costello syndrome, MIM# 218040"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["HRGP","HPRG"],"biotype":"protein_coding","hgnc_id":"HGNC:5181","gene_name":"histidine rich glycoprotein","omim_gene":["142640"],"alias_name":["histidine-proline rich glycoprotein","thrombophilia due to elevated HRG"],"gene_symbol":"HRG","hgnc_symbol":"HRG","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"3:186378005-186396029","ensembl_id":"ENSG00000113905"}},"GRch38":{"90":{"location":"3:186660216-186678240","ensembl_id":"ENSG00000113905"}}},"hgnc_date_symbol_changed":"1989-05-25"},"entity_type":"gene","entity_name":"HRG","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["8236132","11057869","11057869","29108964"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Thrombophilia 11 due to HRG deficiency, MIM# 613116"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["SDR9C3"],"biotype":"protein_coding","hgnc_id":"HGNC:5209","gene_name":"hydroxysteroid 11-beta dehydrogenase 2","omim_gene":["614232"],"alias_name":["short chain dehydrogenase/reductase family 9C, member 3"],"gene_symbol":"HSD11B2","hgnc_symbol":"HSD11B2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"16:67464555-67471456","ensembl_id":"ENSG00000176387"}},"GRch38":{"90":{"location":"16:67430652-67437553","ensembl_id":"ENSG00000176387"}}},"hgnc_date_symbol_changed":"1994-11-18"},"entity_type":"gene","entity_name":"HSD11B2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["7670488","9683587","17314322"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Apparent mineralocorticoid excess, MIM# 218030","MONDO:0009025"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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:11598","gene_name":"T-box 20","omim_gene":["606061"],"alias_name":null,"gene_symbol":"TBX20","hgnc_symbol":"TBX20","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:35242042-35293758","ensembl_id":"ENSG00000164532"}},"GRch38":{"90":{"location":"7:35202430-35254147","ensembl_id":"ENSG00000164532"}}},"hgnc_date_symbol_changed":"2000-08-31"},"entity_type":"gene","entity_name":"TBX20","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["17668378","19762328","33585493","29089047"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Atrial septal defect 4, MIM# 611363"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["TFIID"],"biotype":"protein_coding","hgnc_id":"HGNC:11588","gene_name":"TATA-box binding protein","omim_gene":["600075"],"alias_name":null,"gene_symbol":"TBP","hgnc_symbol":"TBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:170863390-170881958","ensembl_id":"ENSG00000112592"}},"GRch38":{"90":{"location":"6:170554302-170572870","ensembl_id":"ENSG00000112592"}}},"hgnc_date_symbol_changed":"1993-05-26"},"entity_type":"gene","entity_name":"TBP","confidence_level":"0","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Removed","Expert list","Victorian Clinical Genetics Services"],"phenotypes":[],"mode_of_inheritance":"Unknown","tags":["STR"],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["T2R16"],"biotype":"protein_coding","hgnc_id":"HGNC:14921","gene_name":"taste 2 receptor member 16","omim_gene":["604867"],"alias_name":null,"gene_symbol":"TAS2R16","hgnc_symbol":"TAS2R16","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"7:122634759-122635754","ensembl_id":"ENSG00000128519"}},"GRch38":{"90":{"location":"7:122994704-122995700","ensembl_id":"ENSG00000128519"}}},"hgnc_date_symbol_changed":"2001-03-16"},"entity_type":"gene","entity_name":"TAS2R16","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":[],"evidence":["Expert Review Red","Victorian Clinical Genetics Services"],"phenotypes":["[Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. It therefore excludes genes listed in the Incidentalome, such as those associated with some cardiac disorders, cancer predisposition syndromes, and neurodegenerative diseases. If analysis of these genes is required, the relevant disease-specific panel (e.g. Adult Additional Findings, Neurodegenerative Disease_Adult Onset, Regression, Breast Cancer) should be requested.\r\n\r\nPlease note that mitochondrially-encoded genes may only be analysed as part of some genomic tests, e.g. WGS with appropriate accreditation in place. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["FLJ90013"],"biotype":"protein_coding","hgnc_id":"HGNC:26887","gene_name":"transmembrane anterior posterior transformation 1","omim_gene":["612758"],"alias_name":null,"gene_symbol":"TAPT1","hgnc_symbol":"TAPT1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"4:16162128-16229033","ensembl_id":"ENSG00000169762"}},"GRch38":{"90":{"location":"4:16160505-16227410","ensembl_id":"ENSG00000169762"}}},"hgnc_date_symbol_changed":"2007-02-02"},"entity_type":"gene","entity_name":"TAPT1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["26365339","36697720","36652330"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)"],"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":"1.4754","version_created":"2026-04-20T20:37:57.116193+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":["TAPA"],"biotype":"protein_coding","hgnc_id":"HGNC:11566","gene_name":"TAP binding protein","omim_gene":["601962"],"alias_name":["tapasin"],"gene_symbol":"TAPBP","hgnc_symbol":"TAPBP","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:33267471-33282164","ensembl_id":"ENSG00000231925"}},"GRch38":{"90":{"location":"6:33299694-33314387","ensembl_id":"ENSG00000231925"}}},"hgnc_date_symbol_changed":"1997-12-17"},"entity_type":"gene","entity_name":"TAPBP","confidence_level":"2","penetrance":null,"mode_of_pathogenicity":"","publications":["38866210","12149238"],"evidence":["Expert Review Amber","Victorian Clinical Genetics Services"],"phenotypes":["Bare lymphocyte syndrome, type I, MIM# 604571","MHC class I deficiency 3, MIM# 620814"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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