Endocrine neoplasms

Gene: VHL

Amber List (moderate evidence)

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

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene was proposed to be added to this panel with Green status by Soo-Mi Park (East Anglian Medical Genetics Service). No further evidence was provided.

This gene is Green on the Multiple endocrine tumours (Version 1.9) panel.

This gene has been added as an Amber gene and will be given Green status pending decision by the GMS review panel.
Sources: Expert Review
Created: 28 Jan 2021, 10:27 a.m. | Last Modified: 16 Feb 2021, 10:14 a.m.
Panel Version: 1.14

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106

History Filter Activity

28 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: vhl has been classified as Amber List (Moderate Evidence).

28 Jan 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: VHL was added gene: VHL was added to Endocrine neoplasms. Sources: Expert Review for-review tags were added to gene: VHL. Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to Endocrine Cancer; Paragangliomas 1, with or without deafness, 168000; Pheochromocytoma, 171300; Carcinoid tumors, intestinal, 114900; Merkel cell carcinoma, somatic; Paraganglioma and gastric stromal sarcoma, 606864; Cowden syndrome 3, 615106 Review for gene: VHL was set to AMBER