This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Von Hippel-Lindau Syndrome
- Renal cell cancer
- Pheochromocytoma
- Neuroendocrine tumor (pancreas)
- Hemangioblastoma (central nervous system, retina)
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Skeletal dysplasia
- Cystic kidney disease
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Adult solid tumours for rare disease
- Hereditary Erythrocytosis
- Renal cancer pertinent cancer susceptibility
- Unexplained kidney failure in young people
- Von Hippel Lindau syndrome
- Endocrine neoplasia
- Rare multisystem ciliopathy disorders
- Multiple endocrine tumours
- Childhood solid tumours
- Additional findings health related - CNV analysis children
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Primary ciliary disorders
- Inherited renal cancer
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)VHL was created by ellenmcdonagh