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  3. NR3C1
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Extreme early-onset hypertension

Gene: NR3C1

Green List (high evidence)
NR3C1 (nuclear receptor subfamily 3 group C member 1)
EnsemblGeneIds (GRCh38): ENSG00000113580
EnsemblGeneIds (GRCh37): ENSG00000113580
OMIM: 138040, Gene2Phenotype
NR3C1 is in 2 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. Numerous variants reported
Created: 25 Jul 2016, 4:57 p.m.
Comment on list classification: Fiona Karet suggests this gene should be Green, numerous variants reported for the phenotype
Created: 25 Jul 2016, 4:57 p.m.
Created: 25 Jul 2016, 4:57 p.m.

Panel version: 0.92

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Glucocorticoid resistance 615962
OMIM
138040
Clinvar variants
Variants in NR3C1
Penetrance
Complete
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

25 Jul 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).

25 Jul 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).

25 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

NR3C1 was added to Extreme early-onset hypertensionpanel. Sources: Expert Review

25 Jul 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NR3C1 were set to Glucocorticoid resistance 615962

25 Jul 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NR3C1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

25 Jul 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

NR3C1 was added to Extreme early-onset hypertensionpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

NR3C1 was added to Extreme early-onset hypertensionpanel. Sources: Expert