Additional findings health related

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 24 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_000551.3
Created: 21 May 2018, 4 p.m.

History Filter Activity

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene VHL was changed from ENST00000256474.2 to ENST00000256474.2; NM_000551.3

20 Nov 2019, Gel status: 3

Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript

Ellen McDonagh (Genomics England Curator)

Source Additional Findings was removed from VHL. Source ACMG was removed from VHL. Source Other was added to VHL. Phenotypes for gene: VHL were changed from ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child Transcript for gene VHL was changed from None to ENST00000256474.2

10 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: VHL were changed from NM_000551.3; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for VHL were set to NM_000551.3; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for VHL were set to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

VHL was created by Ellen McDonagh