Tumour predisposition - adult onset
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Familial Paraganglioma and Pheochromocytoma
- Hemangioblastoma, cerebellar, somatic
- Von Hippel-Lindau Syndrome
- Erythrocytosis, familial, 2, 263400
- Renal cell carcinoma, somatic, 144700
- von Hippel-Lindau syndrome, 193300
- Pheochromocytoma, 171300
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Panels with this gene
-
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Thoracic dystrophies
- Primary ciliary disorders
- Inherited renal cancer
- Childhood solid tumours cancer susceptibility
- Familial Meniere Disease
- Inherited phaeochromocytoma and paraganglioma
- Skeletal dysplasia
- Additional findings health related - children
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Hereditary Erythrocytosis
- Fetal anomalies
- Von Hippel Lindau syndrome
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Unexplained kidney failure in young people
- Adult solid tumours cancer susceptibility
- Rare multisystem ciliopathy disorders
- Endocrine neoplasia
- Cystic kidney disease
- Multiple endocrine tumours
- Childhood solid tumours
- Additional findings health related - CNV analysis children
History Filter Activity
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes Hemangioblastoma, cerebellar, somatic; Von Hippel-Lindau Syndrome; Erythrocytosis, familial, 2, 263400; Renal cell carcinoma, somatic, 144700; von Hippel-Lindau syndrome, 193300; Pheochromocytoma, 171300 for gene: VHL
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: VHL was added gene: VHL was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VHL were set to Familial Paraganglioma and Pheochromocytoma