Hereditary Erythrocytosis
Gene: VHL

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

3 reviews

Olivia Niblock (Genomics England Curator)

Comment on mode of inheritance: Expert review and OMIM indicate biallelic inheritance.
Created: 26 Apr 2017, 1:49 p.m.

Comment on list classification: Expert review and literature search indicate more that 3 unrelated cases linked to phenotype - PMID: 27651169; 27774468; 23859443
Created: 26 Apr 2017, 1:45 p.m.

Created: 26 Apr 2017, 1:45 p.m.

Panel version: 0.21

Daniel Gale (UCL)

Green List (high evidence)

Causal mutations are hypomorphic and inheritance is recessive.
Created: 25 Apr 2017, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins

Publications

Mode of pathogenicity
Other

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

Created: 25 Apr 2017, 10:51 a.m.

Panel version: 0.11

Ellen McDonagh (Genomics England Curator)

Gene sourced from The Genetics Home Reference.
Created: 14 Mar 2017, 2:20 p.m.

Mode of inheritance
Unknown

Created: 14 Mar 2017, 2:20 p.m.

Panel version: 0.1

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Other

Phenotypes

Erythrocytosis, familial, 2, OMIM:263400

OMIM

608537

Clinvar variants

Variants in VHL

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: VHL were changed from Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins to Erythrocytosis, familial, 2, OMIM:263400

9 May 2017, Gel status: 4