This Panel is marked as Internal
Renal and urinary tract disorders
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
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in OMIM, not in G2P. Numerous variants reported in von Hippel-Lindau syndrome 193300Created: 5 Aug 2016, 12:58 p.m.
Comment on phenotypes: Also associated with Erythrocytosis, familial, 2 263400, Hemangioblastoma, cerebellar, somatic, Pheochromocytoma 171300 and Renal cell carcinoma, somatic 144700Created: 5 Aug 2016, 12:57 p.m.
Ellen Thomas (Genomics England Curator)
Comment on list classification: Important differential for renal cysts.Created: 10 May 2016, 1:10 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- von Hippel-Lindau syndrome 193300
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Panels with this gene
-
- Skeletal dysplasia
- Childhood solid tumours
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
- Additional findings health related - CNV analysis children
- Cystic kidney disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Primary ciliary disorders
- Hereditary Erythrocytosis
- Rare multisystem ciliopathy disorders
- Childhood solid tumours cancer susceptibility
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Inherited renal cancer
History Filter Activity
30 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Ellen Thomas: Comment on list classification
30 Jan 2019, Gel status: 4
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: VHL were changed from von Hippel-Lindau syndrome to von Hippel-Lindau syndrome 193300
20 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes von Hippel-Lindau syndrome for gene: VHL
20 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: VHL was added gene: VHL was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown