Primary ciliary disorders
Gene: VHL

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

2 reviews

Ian Berry (Leeds Genetics Laboratory)

Red List (low evidence)

Gene should be deleted - causes a primary ciliopathy;PCD is a motile ciliopathy, likely unrelated at a functional level.
Created: 8 Dec 2015, 5:33 p.m.

Phenotypes
ciliopathies

Created: 8 Dec 2015, 5:33 p.m.

Panel version: 0

Hannah Mitchison (UCL and GOSH)

This is a ciliopathy but not a Primary Ciliary Disorder gene and should be removed from the panel
Created: 8 Dec 2015, 4:25 p.m.

Phenotypes
ciliopathies

Created: 8 Dec 2015, 4:25 p.m.

Panel version: 0

Details

Sources

Emory Genetics Laboratory

Phenotypes

ciliopathies

OMIM

608537

Clinvar variants

Variants in VHL

Penetrance

Complete

Panels with this gene

History Filter Activity

16 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Primary ciliary disorderspanel. Sources: Emory Genetics Laboratory

Primary ciliary disorders Gene: VHL