Inherited renal cancer

Gene: VHL

Green List (high evidence)

VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 23 panels

5 reviews

Ivone Leong (Genomics England Curator)

As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38

Lara Hawkes (Genomics England)

Green List (high evidence)

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Sources: UKGTN
Created: 28 Dec 2018, 9:38 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater

Publications

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.
Created: 26 Jul 2017, 12:15 p.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal

History Filter Activity

15 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: VHL were set to PMID: 27899189

30 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: vhl has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to VHL. Rating Changed from No List (delete) to Red List (low evidence)

28 Dec 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Rachel Robinson (Leeds Genetics Laboratory)

gene: VHL was added gene: VHL was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: VHL were set to PMID: 27899189 Phenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater Penetrance for gene: VHL were set to Complete Review for gene: VHL was set to GREEN gene: VHL was marked as current diagnostic