Childhood solid tumours cancer susceptibilityGene: VHL
Including in the 'phenotypes' subsection the VHL syndrome, a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.
Created: 6 Aug 2019, 7:35 p.m. | Last Modified: 6 Aug 2019, 7:35 p.m.
Panel Version: 1.4
VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300
Created: 5 Jul 2017, 11:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial Paraganglioma and Pheochromocytoma
Phenotypes for gene: VHL were changed from Familial Paraganglioma and Pheochromocytoma to Familial Paraganglioma and Pheochromocytoma; VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Clare Turnbull: Tumour suppressor.
VHL was added to Childhood solid tumourspanel. Source: Expert Review Green
VHL was added to Childhood solid tumourspanel. Sources: Expert list
VHL was created by ellenmcdonagh