Tumour predisposition - childhood onset

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels

2 reviews

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, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

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

Phenotypes
Familial Paraganglioma & Pheochromocytoma

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to VHL. Mode of inheritance for gene VHL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Paraganglioma and Pheochromocytoma for gene: VHL Publications for gene VHL were changed from to 23788249

25 Jun 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert list was added to VHL. Source Expert Review Green was added to VHL. Mode of inheritance for gene VHL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes von Hippel-Lindau syndrome, 193300 for gene: VHL Rating Changed from Red List (low evidence) to Green List (high evidence)

30 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: VHL was added gene: VHL was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: VHL was set to