Extreme early-onset hypertension
Gene: NR3C2
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.
Promoted 03/08/2016
This gene has been classified as Green List (High Evidence).
Publications for NR3C2 were set to 10884226; 19325532
Phenotypes for NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
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
This gene has been classified as Red List (Low Evidence).
Publications for NR3C2 were set to 10884226
Phenotypes for gene NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115; Pseudohypoaldosteronism type I, autosomal dominant, 177735
NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Literature
NR3C2All sources for gene: NR3C2 were removed
Phenotypes for NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115; Pseudohypoaldosteronism type I, autosomal dominant, 177735
Mode of inheritance for NR3C2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for NR3C2 were set to 10884226
NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen