Familial Meniere Disease
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
0 reviews
Details
- Sources
-
- Literature
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Publications
- 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
27 Mar 2018, Gel status: 1
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)External reviews collated. Internal clinical input. Ready for version 1.
17 Jan 2018, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)VHL was added to Familial Meniere Disease panel. Sources: Literature
17 Jan 2018, Gel status: 1
Created
Eleanor Williams (Genomics England Curator)VHL was created by Eleanor Williams