VHL

von Hippel-Lindau tumor suppressor
OMIM: 608537
PanelMode of inheritanceDetails
7 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma, VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R405
Signed-off version 1.19
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Familial Erythrocytosis 263400, Polycythaemia, erythrocytosis, pulmonary arterial hypertension, thrombosis, vertebral haemangioma, varicose veins
R-numbers: R223
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400
R-numbers: R224
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal hemangioblastoma, Renal cell carcinoma, Multiple renal cysts, Pheochromocytoma, Sporadic cerebellar hemangioblastoma, Hypernephroma, Pancreatic cancer, Paraganglioma, Adenocarcinoma of ampulla of Vater
R-numbers: R359
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
von Hippel-Lindau syndrome, 193300, Familial Paraganglioma and Pheochromocytoma
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
von Hippel-Lindau syndrome 193300