Adult solid tumours for rare disease

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 24 panels

2 reviews

Anna de Burca (Genomics England Curator)

Green List (high evidence)

Adding Von Hippel Lindau syndrome as a phenotype because VHL is also associated with renal cell carcinoma, pancreatic neuroendocrine tumours, endolymphatic sac tumours and haemangioblastomas as well as phaeochromocytomas.
Created: 9 Jan 2019, 2:49 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
von Hippel-Lindau syndrome

Publications

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Tumor Suppressor.
Created: 5 Jul 2017, 12:19 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial Paraganglioma and Pheochromocytoma

History Filter Activity

5 Mar 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

5th March 2018 - promoted to version 1 after expert review and internal clinical review.

19 Dec 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list

19 Dec 2017, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

VHL was created by Ellen McDonagh