Extreme early-onset hypertension

Gene: NR3C2

Green List (high evidence)

NR3C2 (nuclear receptor subfamily 3 group C member 2)
EnsemblGeneIds (GRCh38): ENSG00000151623
EnsemblGeneIds (GRCh37): ENSG00000151623
OMIM: 600983, Gene2Phenotype
NR3C2 is in 3 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Numerous variants reported in Pseudohypoaldosteronism type I, autosomal dominant, 177735
Created: 3 Aug 2016, 1:40 p.m.
Comment on mode of pathogenicity: Gain of function variant
Created: 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 family
Created: 7 Jun 2016, 9:47 a.m.
Comment on phenotypes: Phenotype 605115 relevant to this panel
Created: 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 AD
Created: 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

3 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

3 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Aug 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NR3C2 were set to 10884226; 19325532

3 Aug 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NR3C2 were set to Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115

3 Aug 2016, Gel status: 1

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

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NR3C2 were set to 10884226

7 Jun 2016, Gel status: 0

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

7 Jun 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Expert list,Literature

7 Jun 2016, Gel status: 1

clearsources

Sarah Leigh (Genomics England Curator)

NR3C2All sources for gene: NR3C2 were removed

7 Jun 2016, Gel status: 1

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

7 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NR3C2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

7 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NR3C2 were set to 10884226

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

NR3C2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen