Renal cancer pertinent cancer susceptibility
Gene: VHL
VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
2 reviews
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)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Renal cancer
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Skeletal dysplasia
- Adult solid tumours for rare disease
- Fetal anomalies
- Renal cancer pertinent cancer susceptibility
- Hereditary Erythrocytosis
- Unexplained kidney failure in young people
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Multiple endocrine tumours
- Childhood solid tumours
- Additional findings health related - CNV analysis children
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Von Hippel Lindau syndrome
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Endocrine neoplasia
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VHL was created by ellenmcdonagh
19 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Renal cancerpanel. Sources: Expert list