Childhood solid tumours
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
2 reviews
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, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma & Pheochromocytoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Expert List
- Phenotypes
-
- von Hippel-Lindau syndrome, 193300
- Familial Paraganglioma and Pheochromocytoma
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Publications
- Panels with this gene
-
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Childhood solid tumours
- Cystic kidney disease
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Endocrine neoplasia
- Additional findings health related - CNV analysis children
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Additional findings health related
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Skeletal dysplasia
- 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
- Inherited renal cancer
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to VHL. Mode of inheritance for gene VHL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Paraganglioma and Pheochromocytoma for gene: VHL Publications for gene VHL were changed from to 23788249
Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Source Expert list was added to VHL. Source Expert Review Green was added to VHL. Mode of inheritance for gene VHL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes von Hippel-Lindau syndrome, 193300 for gene: VHL Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: VHL was added gene: VHL was added to Tumour predisposition - childhood onset. Sources: Expert List Mode of inheritance for gene: VHL was set to