Incidentalome_PREGEN_DRAFT
Gene: VHLEnsemblGeneIds (GRCh38): ENSG00000134086
EnsemblGeneIds (GRCh37): ENSG00000134086
OMIM: 608537, Gene2Phenotype
VHL is in 12 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: Requires review by PreGen committeeCreated: 7 Jan 2021, 1:04 a.m. | Last Modified: 7 Jan 2021, 1:04 a.m.
Panel Version: 0.10
Comment on list classification: Needs discussion by PreGen CommitteeCreated: 7 Jan 2021, 1:03 a.m. | Last Modified: 7 Jan 2021, 1:03 a.m.
Panel Version: 0.9
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NSW Health Pathology
- OMIM
- 608537
- Clinvar variants
- Variants in VHL
- Penetrance
- None
- 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
Tony Roscioli (New South Wales Health Pathology)Gene: vhl has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: vhl has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VHL was added gene: VHL was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: VHL was set to Unknown