Adult solid tumours cancer susceptibility
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
3 reviews
Israel Gomy (Dana-Farber Cancer Institute)
Including in the 'phenotypes' subsection the VHL syndrome, a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Created: 6 Aug 2019, 7:40 p.m. | Last Modified: 6 Aug 2019, 7:40 p.m.
Panel Version: 1.6
Phenotypes
VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Familial Paraganglioma and Pheochromocytoma
- VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- Complete
- Panels with this gene
-
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Childhood solid tumours
- 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
- 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
- Unexplained kidney failure in young people
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Skeletal dysplasia
- Inherited renal cancer
- Fetal anomalies
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: VHL were changed from Familial Paraganglioma and Pheochromocytoma to Familial Paraganglioma and Pheochromocytoma; VON HIPPEL-LINDAU (VHL) SYNDROME, 193300
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to VHL.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Adult solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)VHL was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Adult solid tumourspanel. Sources: Expert list