Adult solid tumours cancer susceptibility

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 23 panels

3 reviews

Israel Gomy (Dana-Farber Cancer Institute)

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, 7:40 p.m. | Last Modified: 6 Aug 2019, 7:40 p.m.
Panel Version: 1.6

Phenotypes
VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5

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

13 Aug 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VHL were changed from Familial Paraganglioma and Pheochromocytoma to Familial Paraganglioma and Pheochromocytoma; VON HIPPEL-LINDAU (VHL) SYNDROME, 193300

2 Aug 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to VHL.

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Clare Turnbull: Tumor Suppressor.

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Adult solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

VHL was created by ellenmcdonagh

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Adult solid tumourspanel. Sources: Expert list