Hereditary Erythrocytosis

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

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.

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

Ellen McDonagh (Genomics England Curator)

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

Mode of inheritance
Unknown

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

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

26 Apr 2017, Gel status: 4

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for VHL was changed to BIALLELIC, autosomal or pseudoautosomal

26 Apr 2017, Gel status: 4

Set Phenotypes

Olivia Niblock (Genomics England Curator)

Phenotypes for VHL were set to Familial Erythrocytosis 263400; Polycythaemia; erythrocytosis; pulmonary arterial hypertension; thrombosis; vertebral haemangioma; varicose veins

26 Apr 2017, Gel status: 4

Set publications

Olivia Niblock (Genomics England Curator)

Publications for VHL were set to 27651169; 27774468; 23859443;12415268; 16210343; 14726398; 21454469

26 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

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

7 Apr 2017, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

VHL was added to Hereditary Erythrocytosispanel. Source: UKGTN

7 Apr 2017, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

VHL was added to Hereditary Erythrocytosispanel. Source: Radboud University Medical Center, Nijmegen

14 Mar 2017, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene VHL was set to BIALLELIC, autosomal or pseudoautosomal

14 Mar 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Hereditary Erythrocytosispanel. Sources: Other

14 Mar 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

VHL was created by ellenmcdonagh