Additional findings health related
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 25 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Clinically relevant transcript NM_000551.3Created: 21 May 2018, 4 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Other
- Expert Review Green
- Phenotypes
-
- Other cancer predisposition
- Von Hippel Lindau Syndrome
- Adult and child
- Transcripts
-
- ENST00000256474.2
- NM_000551.3
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- 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
Set transcript
Catherine Snow (Genomics England)Transcript for gene VHL was changed from ENST00000256474.2 to ENST00000256474.2; NM_000551.3
Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript
Ellen McDonagh (Genomics England Curator)Source Additional Findings was removed from VHL. Source ACMG was removed from VHL. Source Other was added to VHL. Phenotypes for gene: VHL were changed from ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child Transcript for gene VHL was changed from None to ENST00000256474.2
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene: VHL were changed from NM_000551.3; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child to ENST00000256474.2; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for VHL were set to NM_000551.3; Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for VHL were set to Other cancer predisposition; Von Hippel Lindau Syndrome; Adult and child
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)VHL was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings
Created
Ellen McDonagh (Genomics England Curator)VHL was created by Ellen McDonagh