Update of the UMD-VHL database: classification of 164 challenging variants based on genotype–phenotype correlation among 605 entries

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 PREDIR networks has collected and interpreted the data of all VHL-mutated patients in the French population during 20 years. The VHL experts modified the classification of 87 variants, registered in UMD-VHL locus-specific database (www.umd.be/VHL/), impacting the clinical care and the genetic counselling of corresponding VHL-suspected families. (By Pr Anne Barlier, https://jmg.bmj.com/content/early/2023/11/17/jmg-2023-109550 )

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