Extreme early-onset hypertension
Gene: PTGISEnsemblGeneIds (GRCh38): ENSG00000124212
EnsemblGeneIds (GRCh37): ENSG00000124212
OMIM: 601699, Gene2Phenotype
PTGIS is in 1 panel
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reportedCreated: 25 Jul 2016, 5:07 p.m.
Comment on mode of inheritance: MultifactorialCreated: 25 Jul 2016, 5:04 p.m.
Details
- Mode of Inheritance
- Other - please specifiy in evaluation comments
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hypertension, essential, 145500
- OMIM
- 601699
- Clinvar variants
- Variants in PTGIS
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted 03/08/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PTGIS was changed to Other - please specifiy in evaluation comments
Added New Source
GEL ()PTGIS was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen