Transplant Co-Morbidity Superpanel
Gene: VHL
VHL (von Hippel-Lindau tumor suppressor)
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 12 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- von Hippel-Lindau syndrome , MIM#193300
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- Panels with this gene
-
- Red cell disorders
- Paraganglioma_phaeochromocytoma
- Incidentalome
- Skeletal dysplasia
- Kidney Cancer
- Additional findings_Paediatric
- Additional findings_Adult
- Renal Macrocystic Disease
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: VHL was added gene: VHL was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome , MIM#193300