Red cell disorders
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Bi-allelic missense variants, postulated to be hypomorphic.
Note mono-allelic variants associated with Von Hippel Lindau syndrome.
Sources: Expert listCreated: 16 Sep 2021, 3:39 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrocytosis, familial, 2, MIM# 263400
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Erythrocytosis, familial, 2, MIM# 263400
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Red cell disorders
- Paraganglioma_phaeochromocytoma
- Incidentalome
- Additional findings_Adult
- Skeletal dysplasia
- Kidney Cancer
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vhl has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vhl has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VHL was added gene: VHL was added to Red cell disorders. Sources: Expert list Mode of inheritance for gene: VHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VHL were set to 12844285; 21454469; 24729484; 23403324 Phenotypes for gene: VHL were set to Erythrocytosis, familial, 2, MIM# 263400 Mode of pathogenicity for gene: VHL was set to Other Review for gene: VHL was set to GREEN