{"id":1911,"date":"2023-11-20T21:06:54","date_gmt":"2023-11-20T21:06:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1911"},"modified":"2026-02-22T23:50:06","modified_gmt":"2026-02-22T23:50:06","slug":"update-of-the-umd-vhl-database-classification-of-164-challenging-variants-based-on-genotype-phenotype-correlation-among-605-entries","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/20\/update-of-the-umd-vhl-database-classification-of-164-challenging-variants-based-on-genotype-phenotype-correlation-among-605-entries\/","title":{"rendered":"Update of the UMD-VHL database: classification of 164 challenging variants based on genotype\u2013phenotype correlation among 605 entries (Contributed by Pr Anne Barlier)"},"content":{"rendered":"

The von Hippel Lindau (VHL) disease is an a hereditary tumor syndrome that predisposes to retinal and central nervous system hemangioblastomas, pheochromocytomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors and other tumors. The VHL disease is caused by germline VHL<\/em> mutation that require accurate classification. The TENGEN and\u00a0PREDIR\u00a0networks has collected and interpreted the data of all VHL<\/em>-mutated patients in the French population during 20 years. The VHL experts modified the classification of 87 variants, registered in UMD-VHL<\/em> locus-specific database (www.umd.be\/VHL\/<\/a>), impacting the clinical care and the genetic counselling of corresponding VHL-suspected families. (https:\/\/jmg.bmj.com\/content\/early\/2023\/11\/17\/jmg-2023-109550<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

The von Hippel Lindau (VHL) disease is an a hereditary tumor syndrome that predisposes to retinal and central nervous system hemangioblastomas, pheochromocytomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors and other tumors. The VHL disease is caused by germline VHL mutation that require accurate classification. The TENGEN and\u00a0PREDIR\u00a0networks has collected and interpreted the data […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1911","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nUpdate of the UMD-VHL database: classification of 164 challenging variants based on genotype\u2013phenotype correlation among 605 entries (Contributed by Pr Anne Barlier) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/11\/20\/update-of-the-umd-vhl-database-classification-of-164-challenging-variants-based-on-genotype-phenotype-correlation-among-605-entries\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Update of the UMD-VHL database: classification of 164 challenging variants based on genotype\u2013phenotype correlation among 605 entries (Contributed by Pr Anne Barlier) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The von Hippel Lindau (VHL) disease is an a hereditary tumor syndrome that predisposes to retinal and central nervous system hemangioblastomas, pheochromocytomas, clear cell renal cell carcinoma, pancreatic neuroendocrine tumors and other tumors. 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