Multiple endocrine tumours

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

4 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Katie Snape (South London GMC)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

Comment on list classification: 3 reviewers plus current diagnostic.
Created: 2 Feb 2016, 2:34 p.m.

History Filter Activity

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for VHL was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

VHL was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory