Genomics England
GMS Panels
Panels
Genes and Entities

VHL

von Hippel-Lindau tumor suppressor
OMIM: 608537
PanelMode of inheritanceDetails
9 panels
Green
in Adult solid tumours cancer susceptibility
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma, VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
von Hippel-Lindau syndrome, 193300, Familial Paraganglioma and Pheochromocytoma
Green
in Cystic kidney disease
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Endocrine neoplasia
R-numbers: R217
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Endocrine Cancer, Paragangliomas 1, with or without deafness, 168000, Pheochromocytoma, 171300, Carcinoid tumors, intestinal, 114900, Merkel cell carcinoma, somatic, Paraganglioma and gastric stromal sarcoma, 606864, Cowden syndrome 3, 615106
Green
in Hereditary Erythrocytosis
R-numbers: R405
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrocytosis, familial, 2, OMIM:263400
Green
in Inherited phaeochromocytoma and paraganglioma excluding NF1
R-numbers: R223
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pheochromocytoma, OMIM:171300, von Hippel-Lindau syndrome, OMIM:193300
Green
in Inherited renal cancer
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
von Hippel-Lindau syndrome 193300
Green
in Von Hippel Lindau syndrome
R-numbers: R225
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes