VON HIPPEL-LINDAU SYNDROME (VHL)

VARIANT ANALYSIS OF THE VHL GENE

VARIANT ANALYSIS OF THE VHL GENE

Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder characterised by retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC) and pheochromocytoma.

VHL disease is classified into VHL Type 1 or Type 2: Type 1 describes those with typical VHL manifestations such as hemangioblastomas and RCC without phaeochromocytomas. Patients with type 2 develop phaeochromocytomas and this subtype accounts for 7–20% of VHL kindreds. Type 2 can be further subdivided into type 2A (phaeochromocytomas and other typical VHL manifestations except RCC), type 2B (the full spectrum of VHL disease including RCC, phaeochromocytomas and other typical VHL manifestations) and type 2C (isolated phaeochromocytomas) (McNeill et al. 2009 Am J Med Genet A. 149A: 2147-2151)

The laboratory participates in the VHL and Sequencing European Molecular Genetics Quality Network (EMQN) schemes.