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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":[],"biotype":"protein_coding","hgnc_id":"HGNC:11769","gene_name":"transforming growth factor beta 3","omim_gene":["190230"],"alias_name":["prepro-transforming growth factor beta-3"],"gene_symbol":"TGFB3","hgnc_symbol":"TGFB3","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"14:76424442-76449334","ensembl_id":"ENSG00000119699"}},"GRch38":{"90":{"location":"14:75958099-75982991","ensembl_id":"ENSG00000119699"}}},"hgnc_date_symbol_changed":"1989-05-10"},"entity_type":"gene","entity_name":"TGFB3","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30071989","25835445","15639475"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Loeys-Dietz syndrome 5, MIM# 615582"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["Dysbindin","My031","HPS7","DBND","BLOC1S8"],"biotype":"protein_coding","hgnc_id":"HGNC:17328","gene_name":"dystrobrevin binding protein 1","omim_gene":["607145"],"alias_name":["dysbindin-1","biogenesis of lysosomal organelles complex-1, subunit 8"],"gene_symbol":"DTNBP1","hgnc_symbol":"DTNBP1","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"6:15523032-15663289","ensembl_id":"ENSG00000047579"}},"GRch38":{"90":{"location":"6:15522801-15663058","ensembl_id":"ENSG00000047579"}}},"hgnc_date_symbol_changed":"2002-01-15"},"entity_type":"gene","entity_name":"DTNBP1","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["12923531","23364359","28259707","30990103"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Hermansky-Pudlak syndrome 7, MIM# 614076","MONDO:0013559"],"mode_of_inheritance":"BIALLELIC, autosomal or pseudoautosomal","tags":[],"panel":{"id":137,"hash_id":null,"name":"Mendeliome","disease_group":"","disease_sub_group":"","description":"The Mendeliome contains genes currently associated with Mendelian gene disorders.\r\n\r\nThe Mendeliome is intended to be used to facilitate panel-agnostic analysis, particularly in complex paediatric patients with multi-system features, while still limiting analysis to genes with published evidence for gene-disease association and minimising the chance of incidental findings. 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If uncertain, please contact your test provider.\r\n\r\nSTRs are currently on this panel as 'grey' due to lack of clinical accreditation for STR analysis in Australian laboratories.\r\n\r\nThis panel was originally developed by VCGS and is a consensus panel used by RMH.","status":"public","version":"1.4749","version_created":"2026-04-17T16:39:03.838514+10:00","relevant_disorders":[],"stats":{"number_of_genes":6014,"number_of_strs":43,"number_of_regions":7},"types":[{"name":"Victorian Clinical Genetics Services","slug":"victorian-clinical-genetics-services","description":"Panel used by VCGS."},{"name":"Royal Melbourne Hospital","slug":"royal-melbourne-hospital","description":"Royal Melbourne Hospital"},{"name":"Rare Disease","slug":"rare-disease","description":"Rare disease panels"}],"child_panel_ids":[]},"transcript":null},{"gene_data":{"alias":["FBLN4","UPH1"],"biotype":"protein_coding","hgnc_id":"HGNC:3219","gene_name":"EGF containing fibulin extracellular matrix protein 2","omim_gene":["604633"],"alias_name":["fibulin 4"],"gene_symbol":"EFEMP2","hgnc_symbol":"EFEMP2","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"11:65633912-65641063","ensembl_id":"ENSG00000172638"}},"GRch38":{"90":{"location":"11:65866441-65873592","ensembl_id":"ENSG00000172638"}}},"hgnc_date_symbol_changed":"2000-03-01"},"entity_type":"gene","entity_name":"EFEMP2","confidence_level":"3","penetrance":null,"mode_of_pathogenicity":"","publications":["30140196","23532871","31548410","19664000"],"evidence":["Expert Review Green","Victorian Clinical Genetics Services"],"phenotypes":["Autosomal recessive cutis laxa type 1B (ARCL1B), MIM# 614437"],"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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