Extreme early-onset hypertension
Gene: NR3C2EnsemblGeneIds (GRCh38): ENSG00000151623
EnsemblGeneIds (GRCh37): ENSG00000151623
OMIM: 600983, Gene2Phenotype
NR3C2 is in 2 panels
2 reviews
Fiona Karet (Universit y of Cambridge)
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Numerous variants reported in Pseudohypoaldosteronism type I, autosomal dominant, 177735Created: 3 Aug 2016, 1:40 p.m.
Comment on mode of pathogenicity: Gain of function variantCreated: 3 Aug 2016, 1:39 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 0/4 sources for phenotype 605115. One reviewer recommends Green. One variant found in single familyCreated: 7 Jun 2016, 9:47 a.m.
Comment on phenotypes: Phenotype 605115 relevant to this panelCreated: 7 Jun 2016, 9:42 a.m.
Comment on mode of inheritance: Only reported in one family for this phenotype (OMIM 605115), appears to be ADCreated: 7 Jun 2016, 9:40 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Expert list
- Phenotypes
-
- Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
- OMIM
- 600983
- Clinvar variants
- Variants in NR3C2
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- 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 Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for NR3C2 were set to 10884226; 19325532
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for NR3C2 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for NR3C2 were set to 10884226
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115; Pseudohypoaldosteronism type I, autosomal dominant, 177735
Upload gene information
Sarah Leigh (Genomics England Curator)NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Literature
clearsources
Sarah Leigh (Genomics England Curator)NR3C2All sources for gene: NR3C2 were removed
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115; Pseudohypoaldosteronism type I, autosomal dominant, 177735
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for NR3C2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set publications
Sarah Leigh (Genomics England Curator)Publications for NR3C2 were set to 10884226
Added New Source
GEL ()NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen