Inherited phaeochromocytoma and paraganglioma

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

Katie Snape (South London GMC)

Green List (high evidence)

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Missense mutations more commonly associated with PCC phenotype.
Created: 16 Oct 2015, 2:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Treena Cranston (Oxford)

Green List (high evidence)

UKGTN approved
Created: 30 Sep 2015, 12:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PCC; VHL

Publications

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

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VHL were changed from Pheochromocytoma, OMIM:171300 to Pheochromocytoma, OMIM:171300; von Hippel-Lindau syndrome, OMIM:193300

2 Aug 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: VHL were set to

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome, 193300Renal cell carcinoma, somatic, 144700Pheochromocytoma, 171300Hemangioblastoma, cerebellar, somaticErythrocytosis, familial, 2, 263400 to Pheochromocytoma, OMIM:171300

6 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).

6 Feb 2016, Gel status: 3

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

VHL was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen